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TableS1.Well-characterizedinbornerrorsofmetabolism.Group/NameofIEM Alternativenames Inheritance Gene OMIMgene
numberA.DISORDERSOFNITROGEN-CONTAININGCOMPOUNDS
1.DisordersofpyrimidinemetabolismCADtrifunctionalproteindeficiency AR CAD 114010Dihydroorotatedehydrogenasedeficiency Postaxialacrofacialdysostosis;Millersyndrome;
Genée–WiedemannsyndromeAR DHODH 126064
Uridinemonophosphatesynthasedeficiency
Hereditaryoroticaciduria AR UMPS 613891
Cytosolicpyrimidine5’-nucleotidasedeficiency
Uridine5’-monophosphatehydrolase1deficiency AR NT5C3A 606224
Activation-inducedcytidinedeaminasedeficiency
Hyper-IgMsyndrometype2 AR AICDA 605257
Uracil-DNAglycosylasedeficiency Hyper-IgMsyndrometype5 AR UNG 191525Seealso:Dihydropyrimidinedehydrogenase,dihydropyrimidinase,andβ-ureidopropionasedeficienciesingroup17.2.DisordersofpurinemetabolismPhosphoribosylpyrophosphatesynthetasesuperactivity
XLR PRPS1 311850
Phosphoribosylpyrophosphatesynthetasedeficiency
Artssyndrome(severe);X-linkedCharcot-Marie-Toothdiseasetype5(intermediate);X-linkeddeafnesstype1(milder)
XLR PRPS1 311850
Adenylosuccinatelyasedeficiency AR ADSL 608222Muscleadenosinemonophosphatedeaminase1deficiency
Myoadenylatedeaminasedeficiency AR AMPD1 102770
Adenosinemonophosphatedeaminase2deficiency
Pontocerebellarhypoplasiatype9(severe);autosomalrecessivespasticparaplegiatype63(milder)
AR AMPD2 102771
Erythrocyteadenosinemonophosphatedeaminase3deficiency
AR AMPD3 102772
Adenosinedeaminase1deficiency AR ADA 608958Adenosinedeaminase2deficiency AR ADA2 607575Purinenucleosidephosphorylasedeficiency
AR PNP 164050
Xanthineoxidasedeficiency Xanthinuriatype1 AR XDH 607633
Hypoxanthineguaninephosphoribosyltransferasedeficiency
Lesch-Nyhansyndrome(severe);Kelley-Seegmillersyndrome(milder)
XLR HPRT1 308000
Adeninephosphoribosyltransferasedeficiency
AR APRT 102600
Adenylatekinase1deficiency AR AK1 103000Adenylatekinase2deficiency Reticulardysgenesis AR AK2 103020Inosine-5'-monophosphatedehydrogenasedeficiency
Retinitispigmentosatype10;Lebercongenitalamaurosistype11
AD IMPDH1 146690
Thiopurinemethyltransferasedeficiency AR TPMT 187680Inosinetriphosphatasedeficiency Earlyinfantileepilepticencephalopathytype35 AR ITPA 147520Uratetransporter1deficiency Hereditaryrenalhypouricemiatype1 AR SLC22A12 607096Uratevoltage-driveneffluxtransporter1deficiency
Hereditaryrenalhypouricemiatype2 AR SLC2A9 606142
3.Disordersofnucleotidemetabolism3’repairexonuclease1deficiency Aicardi-Goutièressyndrometype1;familialchilblain
lupus;retinalvasculopathywithcerebralleukodystrophy
AD,AR TREX1 606609
RibonucleaseH2subunitBdeficiency Aicardi-Goutièressyndrometype2 AR RNASEH2B 610326RibonucleaseH2subunitCdeficiency Aicardi-Goutièressyndrometype3 AR RNASEH2C 610330RibonucleaseH2subunitAdeficiency Aicardi-Goutièressyndrometype4 AR RNASEH2A 606034RibonucleaseT2deficiency Cysticleukoencephalopathywithoutmegalencephaly AR RNASET2 612944SAMHD1deficiency Aicardi-Goutièressyndrometype5;stenosis,
aneurysm,moyamoyaandstroke(SAMSassociation)AR SAMHD1 606754
RNA-specificadenosinedeaminasedeficiency
Aicardi-Goutièressyndrometype6(recessive);dyschromatosissymmetricahereditaria(dominant)
AD,AR ADAR 146920
MDA5superactivity Aicardi-Goutièressyndrometype7;Singleton-Mertensyndrometype1
AD IFIH1 606951
STINGsuperactivity STING-associatedvasculopathywithonsetininfancy(SAVI)
AD TMEM173 612374
2’,5’-oligoadenylatesynthetase1deficiency
Infantile-onsetpulmonaryalveolarproteinosiswithhypogammaglobulinemia
AD OAS1 164350
ABCC6deficiency Generalizedarterialcalcificationofinfancytype2(severe);pseudoxanthomaelasticum(milder)
AR ABCC6 603234
Ectonucleotidepyrophosphatase/phosphodiesterase1deficiency
Generalizedarterialcalcificationofinfancytype1;autosomalrecessivehypophosphatemicricketstype2
AR ENPP1 173335
Ectonucleotidepyrophosphatase/phosphodiesterase1dimerizationdeficiency
Coledisease AD,AR ENPP1 173335
Ecto-5'-nucleotidasedeficiency ArterialcalcificationduetodeficiencyofCD73(ACDC)
AR NT5E 129190
Equilibrativenucleosidetransporter1deficiency
AR SLC29A1 602193
Equilibrativenucleosidetransporter3deficiency
Hsyndrome;familialRosai-Dormandisease;Faisalabadhistiocytosis
AR SLC29A3 612373
4.DisordersofcreatinemetabolismArginine:glycineamidinotransferasedeficiency
Cerebralcreatinedeficiencysyndrometype3 AR GATM 602360
Guanidinoacetatemethyltransferasedeficiency
Cerebralcreatinedeficiencysyndrometype2 AR GAMT 601240
Creatinetransporterdeficiency Cerebralcreatinedeficiencysyndrometype1 XL SLC6A8 3000365.DisordersofcholinemetabolismDimethylglycinedehydrogenasedeficiency
Dimethylglycinuria AR DMGDH 605849
Sarcosinedehydrogenasedeficiency Sarcosinemia AR SARDH 604455Flavinmonooxygenase3deficiency Primarytrimethylaminuria AR FMO3 1361326.Disordersofglutathionemetabolismγ-glutamylcysteinesynthetasedeficiency Glutamate-cysteineligasedeficiency AR GCLC 606857Glutathionesynthetasedeficiency AR GSS 6010025-Oxoprolinasedeficiency AR OPLAH 614243Glutathionereductasedeficiency AR GSR 138300Glutathioneperoxidase4deficiency Spondylometaphysealdysplasia,Sedaghatiantype AR GPX4 138322NRF2superactivity Immunodeficiency,developmentaldelay,and
hypohomocysteinemia(IEMDHH)AD NFE2L2 600492
7.DisordersofammoniadetoxificationN-acetylglutamatesynthasedeficiency AR NAGS 608300CarbamoylphosphatesynthetaseIdeficiency
AR CPS1 608307
Ornithinetranscarbamylasedeficiency XL OTC 300461Argininosuccinatesynthetasedeficiency Citrullinemia AR ASS1 603470Argininosuccinatelyasedeficiency Argininosuccinasedeficiency;argininosuccinic
aciduriaAR ASL 608310
Arginasedeficiency Argininemia AR ARG1 608313Mitochondrialornithinetransporterdeficiency
Hyperornithinemia-hyperammonemia-homocitrullinemiasyndrome;ornithinetranslocasedeficiency
AR SLC25A15 603861
Citrindeficiency Mitochondrialaspartate-glutamatecarrierisoform2deficiency
AR SLC25A13 603859
CarbonicanhydraseVAdeficiency AR CA5A 114761Seealso:Lysinuricproteinintoleranceingroup8,δ-1-pyrroline-5-carboxylatesynthaseandornithineaminotransferasedeficienciesingroup16,glutamatedehydrogenasesuperactivityingroup20,glutaminesynthetasedeficiencyingroup21,pyruvatecarboxylasedeficiencyingroup52,andtransmembraneprotein70deficiencyingroup67.8.DisordersofaminoacidtransportHartnupdisorder AR SLC6A19 608893Iminoglycinuria AR(or
digenic)SLC36A2(±SLC6A20)
608331(±605616)
Hyperglycinuria AD SLC36A2 608331CystinuriatypeA AR SLC3A1 104614CystinuriatypeB AD,AR SLC7A9 604144Lysinuricproteinintolerance Dibasicaminoaciduriatype2 AR SLC7A7 603593Dicarboxylicaminoaciduria AR SLC1A1 133550Largeneutralaminoacidtransporterdeficiency
AR SLC7A5 600182
NeuronalsystemAaminoacidtransporterdeficiency
Fovealhypoplasiatype2withorwithoutopticnervemisroutingand/oranteriorsegmentdysgenesis
AR SLC38A8 615585
Seealso:Mitochondrialornithinetransporterandcitrindeficienciesingroup7,GABAtransporterdeficiencyingroup17,glutamateaspartatetransporter,astroglialglutamateaspartatetransporter,andmitochondrialglutamatetransporterdeficienciesingroup20,ASCT1transporterdeficiencyingroup23,glycinetransporter1,glycinetransporter2,andmitochondrialglycinetransporterdeficienciesingroup24,mitochondrialaspartate-glutamatecarrierisoform1deficiencyingroup57,andcystinosindeficiencyingroup107.9.AminoacylasedeficienciesAspartoacylasedeficiency Canavandisease;aminoacylase2deficiency AR ASPA 608034Aminoacylase1deficiency AR ACY1 10462010.Disordersofmonoaminemetabolism
Tyrosinehydroxylasedeficiency AR TH 191290AromaticL-aminoaciddecarboxylasedeficiency
DOPAdecarboxylasedeficiency AR DDC 107930
Dopamineβ-hydroxylasedeficiency AR DBH 609312MonoamineoxidaseAdeficiency Brunnersyndrome XLR MAOA 309850Dopaminetransporterdeficiency InfantileParkinsonism-dystonia AR SLC6A3 126455Vesicularmonoaminetransporter2deficiency
AR SLC18A2 193001
11.DisordersofphenylalanineandtetrahydrobiopterinmetabolismPhenylalaninehydroxylasedeficiency Phenylketonuria AR PAH 612349AutosomalrecessiveGTPcyclohydrolase1deficiency
AR GCH1 600225
AutosomaldominantGTPcyclohydrolase1deficiency
Segawasyndrome;dystoniatype5A AD GCH1 600225
6-pyruvoyl-tetrahydropterinsynthasedeficiency
AR PTS 612719
Sepiapterinreductasedeficiency AD,AR SPR 182125Dihydropteridinereductasedeficiency AR QDPR 612676Pterin-4-α-carbinolaminedehydratasedeficiency
Primapterinuria;maturity-onsetdiabetesoftheyoung(MODY)withhypomagnesemiaandrenalmagnesiumloss
AR PCBD1 126090
DNAJC12deficiency Non-tetrahydrobiopterin-deficienthyperphenylalaninemia
AR DNAJC12 606060
12.DisordersoftyrosinemetabolismTyrosinasedeficiency Oculocutaneousalbinismtype1 AR TYR 606933Tyrosineaminotransferasedeficiency Tyrosinemiatype2;Richner-Hanhartsyndrome AR TAT 6130184-hydroxyphenylpyruvatedioxygenasedeficiency
Tyrosinemiatype3 AR HPD 609695
Hawkinsinuria AD HPD 609695Homogentisicacidoxidasedeficiency Alkaptonuria AR HGD 607474Maleylacetoacetateisomerasedeficiency Benignhypersuccinylacetonemia AR GSTZ1 603758Fumarylacetoacetasedeficiency Tyrosinemiatype1 AR FAH 61387113.DisordersofsulfuraminoacidandsulfidemetabolismMethionineadenosyltransferaseI/IIIdeficiency
Mudd’sdisease AR MAT1A 610550
Autosomaldominanthypermethioninemia
AD MAT1A 610550
GlycineN-methyltransferasedeficiency AR GNMT 606628S-adenosylhomocysteinehydrolasedeficiency
AR AHCY 180960
Adenosinekinasedeficiency AR ADK 102750Cystathionineβ-synthasedeficiency Classicalhomocystinuria AR CBS 613381Cystathionineγ-lyasedeficiency Cystathioninuria AR CTH 607657Methanethioloxidasedeficiency Extraoralhalitosis AR SELENBP1 604188Isolatedsulfiteoxidasedeficiency Sulfocysteinuria AR SUOX 606887Mitochondrialsulfurdioxygenasedeficiency
Ethylmalonicencephalopathy AR ETHE1 608451
14.Disordersofbranched-chainaminoacidmetabolismBranched-chainaminotransferase2deficiency
Hypervalinemiaandhyperleucine-isoleucinemia AR BCAT2 113530
Branched-chainketoaciddehydrogenaseE1αdeficiency
Maplesyrupurinediseasetype1a AR BCKDHA 608348
Branched-chainketoaciddehydrogenaseE1βdeficiency
Maplesyrupurinediseasetype1b AR BCKDHB 248611
Dihydrolipoyltransacylasedeficiency Maplesyrupurinediseasetype2;branched-chainketoaciddehydrogenaseE2deficiency
AR DBT 248610
Dihydrolipoamidedehydrogenasedeficiency
E3deficiency AR DLD 238331
Branched-chainketoaciddehydrogenasekinasedeficiency
AR BCKDK 614901
Isovaleryl-CoAdehydrogenasedeficiency Isovalericacidemia AR IVD 607036Isobutyryl-CoAdehydrogenasedeficiency AR ACAD8 6047732-Methylbutyryl-CoAdehydrogenasedeficiency
Short/branched-chainacyl-CoAdehydrogenasedeficiency;2-methylbutyrylglycinuria
AR ACADSB 600301
3-Methylcrotonyl-CoAcarboxylase1deficiency
3-methylcrotonylglycinuriatype1 AR MCCC1 609010
3-Methylcrotonyl-CoAcarboxylase2deficiency
3-methylcrotonylglycinuriatype2 AR MCCC2 609014
3-methylglutaconyl-CoAhydratasedeficiency
3-methylglutaconicaciduriatype1 AR AUH 600529
Mitochondrialshort-chainenoyl-CoAhydratase1deficiency
Crotonasedeficiency AR ECHS1 602292
3-hydroxyisobutyryl-CoAhydrolasedeficiency
β-hydroxyisobutyryl-CoAdeacylasedeficiency AR HIBCH 610690
HSD10disease 2-methyl-3-hydroxybutyryl-CoAdehydrogenasedeficiency
AR HSD17B10 300256
3-Hydroxy-3-methylglutaryl-CoAlyasedeficiency
Hydroxymethylglutaricaciduria AR HMGCL 613898
Methylmalonatesemialdehydedehydrogenasedeficiency
AR ALDH6A1 603178
Propionicacidemiaduetopropionyl-CoAcarboxylaseαsubunitdeficiency
AR PCCA 232000
Propionicacidemiaduetopropionyl-CoAcarboxylaseβsubunitdeficiency
AR PCCB 232050
Methylmalonyl-CoAepimerasedeficiency AR MCEE 608419Methylmalonicaciduriaduetomethylmalonyl-CoAmutasedeficiency
AR MUT 609058
Acyl-CoAsynthetasefamilymember3deficiency
Combinedmalonicandmethylmalonicaciduria AR ACSF3 614245
Malonyl-CoAdecarboxylasedeficiency Malonicaciduria AR MLYCD 606761Seealso:Largeneutralaminoacidtransporterdeficiencyingroup8,andmitochondrialacetoacetyl-CoAthiolasedeficiencyingroup84.15.Disordersoflysinemetabolismα-aminoadipicsemialdehydesynthasedeficiency
Familialhyperlysinemia;saccharopinuria AR AASS 605113
α-aminoadipicsemialdehydedehydrogenasedeficiency
Pyridoxine-dependentepilepsy AR ALDH7A1 107323
2-aminoadipic2-oxoadipicaciduria AR DHTKD1 614984Charcot-Marie-Toothdiseasetype2Q AD DHTKD1 614984Glutaryl-CoAdehydrogenasedeficiency Glutaricacidemiatype1 AR GCDH 608801Succinate-hydroxymethylglutarate-CoAtransferasedeficiency
Glutaricacidemiatype3 AR SUGCT 609187
5-phosphohydroxylysinephospholyase Phosphohydroxylysinuria AR PHYKPL 61468316.Disordersofprolineandornithinemetabolismδ-1-pyrroline-5-carboxylatesynthasedeficiency,cutislaxaphenotype
Autosomalrecessivecutislaxatype3A;autosomaldominantcutislaxatype3
AD,AR ALDH18A1 138250
δ-1-pyrroline-5-carboxylatesynthasedeficiency,spasticparaplegiaphenotype
Autosomaldominantspasticparaplegiatype9A;autosomalrecessivespasticparaplegiatype9B
AD,AR ALDH18A1 138250
Pyrroline-5-carboxylatereductase1deficiency
Autosomalrecessivecutislaxatype2B;autosomalrecessivecutislaxatype3B
AR PYCR1 179035
Pyrroline-5-carboxylatereductase2deficiency
Hypomyelinatingleukodystrophytype10 AR PYCR2 616406
Prolinedehydrogenasedeficiency Prolineoxidasedeficiency;hyperprolinemiatype1 AR PRODH 606810Pyrroline-5-carboxylatedehydrogenasedeficiency
Hyperprolinemiatype2 AR ALDH4A1 606811
Hydroxyprolinedehydrogenasedeficiency
Hydroxyprolinemia AR PRODH2 616377
Prolidasedeficiency AR PEPD 613230X-prolylaminopeptidase3deficiency Nephronophthisis-likenephropathytype1 AR XPNPEP3 613553Ornithineaminotransferasedeficiency Gyrateatrophyofchoroidandretina AR OAT 613349Sperminesynthasedeficiency Snyder-Robinsonsyndrome AR SMS 300105Seealso:4-hydroxy-2-oxoglutaratealdolase1deficiencyingroup114.17.Disordersofβ-andγ-aminoacidsDihydropyrimidinedehydrogenasedeficiency
AR DPYD 612779
Dihydropyrimidinasedeficiency Dihydropyrimidinuria AR DPYS 613326β-ureidopropionasedeficiency β-alaninesynthasedeficiency AR UPB1 606673Hyper-β-aminoisobutyricaciduria AR AGXT2 612471GABAtransaminasedeficiency AR ABAT 137150Succinicsemialdehydedehydrogenasedeficiency
4-hydroxybutyricaciduria AR ALDH5A1 610045
GABAtransporterdeficiency Myoclonic-atonicepilepsy AD SLC6A1 137165GABAtypeAreceptorα1subunitdeficiency
Earlyinfantileepilepticencephalopathytype19 AD GABRA1 137160
GABAtypeAreceptorβ1subunitdeficiency
Earlyinfantileepilepticencephalopathytype45 AD GABRB1 137190
GABAtypeAreceptorβ2subunitdeficiency
Infantileorearlychildhoodepilepticencephalopathytype2
AD GABRB2 600232
GABAtypeAreceptorβ3subunitdeficiency
Earlyinfantileepilepticencephalopathytype43 AD GABRB3 137192
GABAtypeAreceptorγ2subunitdeficiency
AD GABRG2 137164
GABAtypeBreceptorsubunit2deficiency
AD GABBR2 607340
Seealso:Methylmalonatesemialdehydedehydrogenasedeficiencyingroup14.18.DisordersofhistidinemetabolismHistidineammonia-lyasedeficiency Histidasedeficiency;histidinemia AR HAL 60945719.DisordersoftryptophanmetabolismKynureninasedeficiency Xanthurenicaciduria;vertebral,cardiac,renal,and
limbdefectssyndrometype2AR KYNU 605197
3-hydroxyanthranilicacid3,4-dioxygenasedeficiency
Vertebral,cardiac,renal,andlimbdefectssyndrometype1
AR HAAO 604521
Tryptophan2,3-dioxygenasedeficiency Hypertryptophanemia AR TDO2 191070Seealso:Hartnupdisorderingroup8.20.DisordersofglutamatemetabolismGlutamatedehydrogenasesuperactivity Hyperinsulinism-hyperammonemiasyndrome;
familialhyperinsulinemichypoglycemiatype6AD GLUD1 138130
Mitochondrialglutamatetransporterdeficiency
Earlyinfantileepilepticencephalopathytype3 AR SLC25A22 609302
Glutamateaspartatetransporterdeficiency
EAAT1deficiency;episodicataxiatype6 AD SLC1A3 600111
Astroglialglutamateaspartatetransporterdeficiency
EAAT2deficiency;earlyinfantileepilepticencephalopathytype41
AD SLC1A2 600300
IonotropicglutamatereceptorNMDAtypesubunit1dysregulation
Autosomaldominantmentalretardationtype8;neurodevelopmentaldisorderwithorwithouthyperkineticmovementsandseizures
AD,AR GRIN1 138249
IonotropicglutamatereceptorNMDAtypesubunit2Adysregulation
AD GRIN2A 138253
IonotropicglutamatereceptorNMDAtypesubunit2Bdysregulation
Earlyinfantileepilepticencephalopathytype27;autosomaldominantmentalretardationtype6
AD GRIN2B 138252
IonotropicglutamatereceptorNMDAtypesubunit2Dsuperactivity
Earlyinfantileepilepticencephalopathytype46 AD GRIN2D 602717
IonotropicglutamatereceptorAMPAtypesubunit3deficiency
SyndromicX-linkedmentalretardation,Wutype XLR GRIA3 305915
IonotropicglutamatereceptorAMPAtypesubunit4dysregulation
Neurodevelopmentaldisorderwithorwithoutseizuresandgaitabnormalities(NEDSGA)
AD GRIA4 138246
Metabotropicglutamatereceptor1deficiency
Autosomalrecessivespinocerebellarataxiatype13 AR GRM1 604473
Metabotropicglutamatereceptor1superactivity
Spinocerebellarataxiatype44 AD GRM1 604473
Metabotropicglutamatereceptor6deficiency
Congenitalstationarynightblindnesstype1B AR GRM6 604096
21.DisorderofglutaminemetabolismGlutaminesynthetasedeficiency AR GLUL 13829022.DisorderofasparaginemetabolismAsparaginesynthetasedeficiency AR ASNS 10837023.Disordersofserinemetabolism3-phosphoglyceratedehydrogenasedeficiency
AR PHGDH 606879
Phosphoserineaminotransferasedeficiency
AR PSAT1 610936
Phosphoserinephosphatasedeficiency AR PSPH 172480ASCT1transporterdeficiency Spastictetraplegia,thincorpuscallosum,and
progressivemicrocephalyAR SLC1A4 600229
24.DisordersofglycinemetabolismGlycineencephalopathyduetoglycinedecarboxylasedeficiency
Nonketotichyperglycinemia AR GLDC 238300
Glycineencephalopathyduetoaminomethyltransferasedeficiency
Nonketotichyperglycinemia AR AMT 238310
Glycinetransporter1deficiency Glycineencephalopathywithnormalserumglycine AR SLC6A9 601019Glycinetransporter2deficiency Hereditaryhyperekplexiatype3 AD,AR SLC6A5 604159Glycinereceptorα1subunitdeficiency Hereditaryhyperekplexiatype1 AD,AR GLRA1 138491Glycinereceptorβsubunitdeficiency Hereditaryhyperekplexiatype2 AR GLRB 138492Mitochondrialglycinetransporterdeficiency
Congenitalsideroblasticanemiatype2 AR SLC25A38 610819
Seealso:Lipoyltransferase2,lipoicacidsynthase,NFU1,BOLA3,glutaredoxin5,IBA57,andISCA2deficienciesingroup25.
B.DISORDERSOFVITAMINS,COFACTORS,METALSANDMINERALS25.Disordersoflipoicacidandiron-sulfurmetabolismLipoyltransferase2deficiency Neonatalsevereencephalopathywithlacticacidosis
andbrainabnormalities(NELABA)AR LIPT2 617659
Lipoicacidsynthasedeficiency Hyperglycinemia,lacticacidosis,andseizures AR LIAS 607031
Lipoyltransferase1deficiency AR LIPT1 610284NFU1deficiency Multiplemitochondrialdysfunctionssyndrometype
1AR NFU1 608100
BOLA3deficiency Multiplemitochondrialdysfunctionssyndrometype2withhyperglycinemia
AR BOLA3 613183
Glutaredoxin5deficiency AR GLRX5 609588IBA57deficiency AR IBA57 615316ISCA1deficiency Multiplemitochondrialdysfunctionssyndrometype
5AR ISCA1 611006
ISCA2deficiency Multiplemitochondrialdysfunctionssyndrometype4
AR ISCA2 615317
ISCUdeficiency Hereditarymyopathywithlacticacidosis,Swedishtypemyopathywithexerciseintolerance
AD,AR ISCU 611911
ABCB7deficiency Sideroblasticanemiaandspinocerebellarataxia XLR ABCB7 300135Ferredoxinreductasedeficiency Auditoryneuropathyandopticatrophy AR FDXR 103270Frataxindeficiency Friedreichataxia AR FXN 606829Seealso:HSPA9deficiencyingroup79.26.DisordersofcobalaminmetabolismHereditaryintrinsicfactordeficiency AR GIF 609342Cubilindeficiency Imerslund-Gräsbeckdisease,Finnishtype AR CUBN 602997Amnionlessdeficiency Imerslund-Gräsbeckdisease,Norwegiantype AR AMN 605799Haptocorrindeficiency TranscobalaminIdeficiency AD,AR TCN1 189905TranscobalaminIIdeficiency AR TCN2 613441Transcobalaminreceptordeficiency AR CD320 606475Methylmalonicaciduriaandhomocystinuria,cblFtype
AR LMBRD1 612625
Methylmalonicaciduriaandhomocystinuria,cblJtype
AR ABCD4 603214
Methylmalonicaciduriaandhomocystinuria,cblCtype
AR MMACHC 609831
Epi-cblC AR MMACHC+PRDX1
609831+176763
cblDdisease AR MMADHC 611935Methioninesynthasereductasedeficiency Homocystinuria-megaloblasticanemia,cblEtype AR MTRR 602568Methioninesynthasedeficiency Homocystinuria-megaloblasticanemia,cblGtype AR MTR 156570Methylmalonicaciduria,cblAtype AR MMAA 607481Methylmalonicaciduria,cblBtype AR MMAB 607568Methylmalonicaciduriaandhomocystinuria,cblXtype
XLR HCFC1 300019
27.DisordersoffolatemetabolismProton-coupledfolatetransporterdeficiency
Hereditaryfolatemalabsorption AR SLC46A1 611672
Folatereceptorαdeficiency Neurodegenerationduetocerebralfolatetransportdeficiency
AR FOLR1 136430
5,10-methylenetetrahydrofolatereductasedeficiency
AR MTHFR 607093
Methylenetetrahydrofolatedehydrogenase1deficiency
Combinedimmunodeficiencyandmegaloblasticanemiawithorwithouthyperhomocysteinemia(CIMAH)
AR MTHFD1 172460
Dihydrofolatereductasedeficiency AR DHFR 126060Glutamateformiminotransferasedeficiency
Formiminoglutamicaciduria AR FTCD 606806
28.DisordersofbiotinmetabolismBiotinidasedeficiency AR BTD 609019Holocarboxylasesynthetasedeficiency AR HLCS 60901829.DisordersofthiaminemetabolismThiaminetransporter1deficiency Thiamine-responsivemegaloblasticanemia;Rogers
syndrome;thiaminemetabolismdysfunctionsyndrometype1
AR SLC19A2 603941
Thiaminetransporter2deficiency Biotin-thiamine-responsivebasalgangliadisease;thiaminemetabolismdysfunctionsyndrometype2
AR SLC19A3 606152
Thiaminepyrophosphokinasedeficiency Thiaminemetabolismdysfunctionsyndrometype5 AR TPK1 606370
Mitochondrialthiaminepyrophosphatetransporterdeficiency
Amishlethalmicrocephaly,thiaminemetabolismdysfunctionsyndrometype3(severe);bilateralstriatalnecrosisandprogressivepolyneuropathy,thiaminemetabolismdysfunctionsyndrometype4(milder)
AR SLC25A19 606521
30.DisordersofriboflavinmetabolismRiboflavintransporter1deficiency Transientriboflavindeficiency AD SLC52A1 607883Riboflavintransporter2deficiency Brown-Vialetto-vanLaeresyndrometype1 AR SLC52A3 613350Riboflavintransporter3deficiency Brown-Vialetto-vanLaeresyndrometype2 AR SLC52A2 607882Flavinadeninedinucleotidesynthetasedeficiency
AR FLAD1 610595
Mitochondrialflavinadeninedinucleotidetransporterdeficiency
Riboflavin-responsiveexerciseintolerance AR SLC25A32 610815
Electrontransferflavoproteinαsubunitdeficiency
Glutaricacidemiatype2A;multipleacyl-CoAdehydrogenasedeficiencytype2A
AR ETFA 608053
Electrontransferflavoproteinβsubunitdeficiency
Glutaricacidemiatype2B;multipleacyl-CoAdehydrogenasedeficiencytype2B
AR ETFB 130410
Electrontransferflavoproteindehydrogenasedeficiency
Glutaricacidemiatype2C;multipleacyl-CoAdehydrogenasedeficiencytype2C
AR ETFDH 231675
31.DisordersofniacinandNADmetabolismNicotinamidemononucleotideadenylyltransferase1deficiency
Lebercongenitalamaurosis9 AR NMNAT1 608700
MitochondrialNADkinase2deficiency 2,4-dienoyl-CoAreductasedeficiencywithhyperlysinemia
AR NADK2 615787
NAD(P)HXepimerasedeficiency ApolipoproteinA-Ibindingproteindeficiency AR NAXE 608862NAD(P)HXdehydratasedeficiency CARKDdeficiency AR NAXD 615910Nicotinamidenucleotidetranshydrogenasedeficiency
Glucocorticoiddeficiencytype4 AR NNT 607878
Seealso:Hartnupdisorderingroup8,andkynureninaseand3-hydroxyanthranilicacid3,4-dioxygenasedeficienciesingroup19.32.DisordersofpantothenatemetabolismPantothenatekinase2deficiency Pantothenatekinase-associatedneurodegeneration
(PKAN);neurodegenerationwithbrainironaccumulationtype1
AR PANK2 606157
CoenzymeAsynthasedeficiency CoenzymeAsynthaseprotein-associatedneurodegeneration(CoPAN);neurodegenerationwithbrainironaccumulationtype6
AR COASY 609855
33.DisordersofpyridoxinemetabolismPyridoxamine5'-phosphateoxidasedeficiency
AR PNPO 603287
Pyridoxal5’-phosphatebindingproteindeficiency
PROSCdeficiency AR PLPBP 604436
Tissue-nonspecificalkalinephosphatasedeficiency
Hypophosphatasia AD,AR ALPL 171760
Seealso:α-aminoadipicsemialdehydedehydrogenasedeficiencyingroup15,andpyrroline-5-carboxylatedehydrogenasedeficiencyingroup16.34.DisorderofvitaminCmetabolismL-dehydroascorbatetransporterdeficiency
GLUT10deficiency;arterialtortuositysyndrome AR SLC2A10 606145
35.DisordersofvitaminAmetabolismβ-carotene15,15'-dioxygenasedeficiency HypercarotenemiaandvitaminAdeficiency AD BCO1 605748Plasmaretinol-bindingproteindeficiency Retinaldystrophy,iriscoloboma,andcomedogenic
acnesyndrome(recessive);isolatedmicrophthalmiaand/orcolobomatype10(dominant)
AD,AR RBP4 180250
VitaminAreceptordeficiency Matthew-Woodsyndrome;pulmonaryhypoplasia-diaphragmatichernia-anophthalmia-cardiacdefect(PDAC)syndrome
AR STRA6 610745
Lecithinretinolacyltransferasedeficiency Lebercongenitalamaurosistype14 AR LRAT 604863Retinalisomerasedeficiency Lebercongenitalamaurosistype2 AR RPE65 180069Retinoldehydrogenase5deficiency Fundusalbipunctatus AD,AR RDH5 601617Retinoldehydrogenase12deficiency Lebercongenitalamaurosistype13 AR RDH12 608830Interphotoreceptorretinol-bindingproteindeficiency
Retinitispigmentosatype66 AR RBP3 180290
Retinaldehydedehydrogenase3deficiency
Isolatedmicrophthalmiatype8 AR ALDH1A3 600463
Cellularretinaldehyde-bindingproteindeficiency
AD,AR RLBP1 180090
36.DisordersofvitaminDmetabolism1-α-hydroxylasedeficiency VitaminD-dependentricketstype1A AR CYP27B1 609506VitaminD25-hydroxylasedeficiency VitaminD-dependentricketstype1B AR CYP2R1 608713
VitaminDreceptordeficiency VitaminD-dependentricketstype2A AR VDR 601769VitaminD24-hydroxylasedeficiency Infantilehypercalcemiatype1 AR CYP24A1 12606537.DisorderofvitaminEmetabolismα-tocopheroltransferproteindeficiency AtaxiawithisolatedvitaminEdeficiency AR TTPA 60041538.DisordersofvitaminKmetabolismγ-glutamylcarboxylasedeficiency CombineddeficiencyofvitaminK-dependent
coagulationfactorstype1AR GGCX 137167
VitaminKepoxidereductasedeficiency CombineddeficiencyofvitaminK-dependentcoagulationfactorstype2
AR VKORC1 608547
Microsomalepoxidehydrolasedeficiency Familialhypercholanemia AR EPHX1 132810Menaquinone-4synthetasedeficiency Schnydercornealdystrophy AD UBIAD1 61163239.DisordersofmolybdenummetabolismCyclicpyranopterinmonophosphatesynthasedeficiency
MolybdenumcofactordeficiencytypeA AR MOCS1 603707
Molybdopterinsynthasedeficiency MolybdenumcofactordeficiencytypeB AR MOCS2 603708Gephyrindeficiency MolybdenumcofactordeficiencytypeC AR GPHN 603930Molybdenumcofactorsulfurasedeficiency
Xanthinuriatype2 AR MOCOS 613274
40.DisordersofcoppermetabolismCopper-transportingATPaseβsubunitdeficiency
Wilsondisease;hepatolenticulardegeneration AR ATP7B 606882
Copper-transportingATPaseαsubunitdeficiency
Menkesdisease(severe);occipitalhornsyndrome(milder)
XLR ATP7A 300011
ATP7A-relateddistalmotorneuropathy X-linkeddistalspinalmuscularatrophytype3 XLR ATP7A 300011MEDNIKsyndrome AR AP1S1 603531Acetyl-CoAtransporterdeficiency Huppke-Brendelsyndrome;congenitalcataracts,
hearingloss,andneurodegenerationAR SLC33A1 603690
41.DisordersofironmetabolismHereditaryhemochromatosistype1 AR HFE 613609Hemojuvelindeficiency Hereditaryhemochromatosistype2A AR HFE2 608374Hepcidindeficiency Hereditaryhemochromatosistype2B AR HAMP 606464Transferrinreceptor2deficiency Hereditaryhemochromatosistype3 AR TFR2 604720Ferroportindeficiency Hereditaryhemochromatosistype4 AD SLC40A1 604653Ferritinlightchaindeficiency HereditaryL-ferritindeficiency AD,AR FTL 134790
Ferritinlightchainsuperactivity Neuroferritinopathy;neurodegenerationwithbrainironaccumulation3
AR FTL 134790
Ferritinlightchaindysregulation Hyperferritinemia-cataractsyndrome AR FTL 134790Hereditaryceruloplasmindeficiency Aceruloplasminemia AR CP 117700Matriptrase2deficiency Iron-refractoryirondeficiencyanemia AR TMPRSS6 609862Hereditarytransferrindeficiency Atransferrinemia AR TF 190000Transferrinreceptordeficiency Immunodeficiencytype46 AR TFRC 190010Divalentmetaltransporter1deficiency Hypochromicmicrocyticanemiawithironoverload
type1AR SLC11A2 600523
42.DisordersofmanganesemetabolismHypermanganesemiawithdystoniatype1 AR SLC30A10 611146Hypermanganesemiawithdystoniatype2 AR SLC39A14 608736SLC39A8deficiency AR SLC39A8 608732Seealso:ATP13A2deficiencyingroup101.43.DisordersofzincmetabolismAcrodermatitisenteropathica AR SLC39A4 607059Transientneonatalzincdeficiency AD SLC30A2 609617SpondylocheirodysplasticEhlers-Danlossyndrome
AR SLC39A13 608735
Birk-Landau-Perezsyndrome AR SLC30A9 60460444.DisordersofseleniummetabolismSelenocysteineinsertionsequence-bindingprotein2deficiency
AR SECISBP2 607693
O-phosphoseryl-tRNA(Sec)seleniumtransferasedeficiency
Selenocysteinyl-tRNA(Sec)synthasedeficiency;progressivecerebellocerebralatrophy;pontocerebellarhypoplasiatype2D
AR SEPSECS 613009
45.DisordersofmagnesiummetabolismEpithelialmagnesiumtransporterdeficiency
Hypomagnesemiawithsecondaryhypocalcemia AR TRPM6 607009
Sodium-potassiumATPaseγsubunitdeficiency
Autosomaldominanthypomagnesemiawithhypocalciuria;renalhypomagnesemiatype2
AD FXYD2 601814
Claudin10deficiency Hypohydrosis,electrolyteimbalance,lacrimalglanddysfunction,ichthyosisandxerostomia(HELIX)syndrome
AR CLDN10 617579
Claudin16deficiency Familialhypomagnesemiawithhypercalciuriaandnephrocalcinosistype1;renalhypomagnesemiatype3
AR CLDN16 603959
Claudin19deficiency Familialhypomagnesemiawithhypercalciuriaandnephrocalcinosistype2;renalhypomagnesemiatype5withocularinvolvement
AR CLDN19 610036
CyclinM2deficiency Renalhypomagnesemiatype6 AD,AR CNNM2 607803Sodium-chloridecotransporterdeficiency Gitelmansyndrome AR SLC12A3 600968KCNJ10deficiency Epilepsy,ataxia,sensorineuraldeafness,tubulopathy
(EAST)syndrome;seizures,sensorineuraldeafness,ataxia,mentalretardation,electrolyteimbalance(SeSAME)syndrome
AR KCNJ10 612780
Seealso:Pterin-4-α-carbinolaminedehydratasedeficiencyingroup11,hepatocytenuclearfactor-1βdeficiencyingroup50,mitochondrialtRNA(Ile)deficiencyingroup73,andmitochondrialseryl-tRNAsynthetasedeficiencyingroup74.
C.DISORDERSOFCARBOHYDRATES46.DisordersofcarbohydratetransportandabsorptionBlood-brainbarrierglucosetransporter1deficiency
GLUT1deficiency AD,AR SLC2A1 138140
Neuronalglucosetransporterdeficiency Intellectualdevelopmentaldisorderwithneuropsychiatricfeatures
AR SLC45A1 605763
Glucosetransporter2deficiency Fanconi-Bickelsyndrome AR SLC2A2 138160Intestinalsodium-glucosecotransporter1deficiency
Glucose-galactosemalabsorption AR SLC5A1 182380
Congenitalsucrase-isomaltasedeficiency AR SI 609845Trehalasedeficiency TREH 275360Congenitallactasedeficiency Congenitalalactasia AR LCT 603202Renalsodium-glucosecotransporter2deficiency
Familialrenalglucosuriatype1 AD,AR SLC5A2 182381
47.DisordersofgalactosemetabolismGalactose-1-phosphateuridylyltransferasedeficiency
Classicgalactosemia;galactosemiatype1 AR GALT 606999
Galactoseepimerasedeficiency Galactosemiatype3 AR GALE 606953Galactokinasedeficiency Galactosemiatype2 AR GALK1 60431348.DisordersoffructosemetabolismHepaticfructokinasedeficiency Essentialfructosuria AR KHK 614058
AldolaseBdeficiency Hereditaryfructoseintolerance AR ALDOB 612724Seealso:Fructose-1,6-bisphosphatasedeficiencyingroup52.49.DisordersofthepentosephosphatepathwayandpolyolmetabolismGlucose-6-phosphatedehydrogenasedeficiency
XLR G6PD 305900
Ribose5-phosphateisomerasedeficiency AR RPIA 180430Transaldolasedeficiency AR TALDO1 602063Transketolasedeficiency Shortstature,developmentaldelay,andcongenital
heartdefectsAR TKT 606781
Sedoheptulosekinasedeficiency AR SHPK 605060L-xylulosereductasedeficiency
Pentosuria;xylitoldehydrogenasedeficiency AR DCXR 608347
50.DisordersofinsulinsecretionandsignalingATP-sensitivepotassiumchannelregulatorysubunitdeficiency
Familialhyperinsulinemichypoglycemiatype1 AD,AR ABCC8 600509
ATP-sensitivepotassiumchannelregulatorysubunitsuperactivity
Developmentaldelay,epilepsyandneonataldiabetes(DEND),permanentortransientneonataldiabeteswithoutneurologicfeatures(severe);maturity-onsetdiabetesoftheyoungtype12(milder)
AD,AR ABCC8 600509
ATP-sensitivepotassiumchannelpore-formingsubunitdeficiency
Familialhyperinsulinemichypoglycemiatype2 AR KCNJ11 600937
ATP-sensitivepotassiumchannelpore-formingsubunitsuperactivity
Developmentaldelay,epilepsyandneonataldiabetes(DEND),permanentortransientneonataldiabeteswithoutneurologicfeatures(severe);maturity-onsetdiabetesoftheyoungtype13(milder)
AD,AR KCNJ11 600937
Hepatocytenuclearfactor-4αdeficiency AD HNF4A 600281Hepatocytenuclearfactor-1αdeficiency AD HNF1A 142410Hepatocytenuclearfactor-1βdeficiency AD HNF1B 189907Uncouplingprotein2deficiency AD UCP2 601693Primarycongenitalinsulindeficiency Permanentneonataldiabetesmellitus(severe);
maturity-onsetdiabetesoftheyoungtype10(milder)
AD INS 176730
Proinsulincleavagedeficiency Hyperproinsulinemia AD INS 176730Insulinreceptordysregulation Familialhyperinsulinemichypoglycemiatype5 AD INSR 147670
Insulinpromoterfactor1deficiency Maturity-onsetdiabetesoftheyoungtype4(dominant);pancreaticagenesis(recessive)
AD,AR PDX1 600733
Neurogenicdifferentiationfactor1deficiency
Maturity-onsetdiabetesoftheyoungtype6(dominant);permanentneonataldiabetesandneurologicanomalies(recessive)
AD,AR NEUROD1 601724
Krüppel-likefactor11deficiency Maturity-onsetdiabetesoftheyoungtype7 AD KLF11 603301PAX4deficiency Maturity-onsetdiabetesoftheyoungtype9 AD PAX4 167413BLKdeficiency Maturity-onsetdiabetesoftheyoungtype11 AD BLK 191305APPL1deficiency Maturity-onsetdiabetesoftheyoungtype14 AD APPL1 604299AKT2superactivity Hypoinsulinemichypoglycemiawith
hemihypertrophyAD AKT2 164731
RFX6deficiency Mitchell-Rileysyndrome(recessive);maturity-onsetdiabetesoftheyoung(dominant)
AD,AR RFX6 612659
Seealso:Adenosinekinasedeficiencyingroup13,glutamatedehydrogenasesuperactivityingroup20,glucokinasesuperactivityingroup53,short-chain3-hydroxyacyl-CoAdehydrogenasedeficiencyingroup83,catalyticphosphatidylinositol3-kinaseαsubunitsuperactivityingroup93,phosphomannomutase2,phosphomannoseisomerase,ALG3α-1,3-mannosyltransferase,andALG6α-1,3-glucosyltransferasedeficienciesingroup115,andphosphoglucomutase1deficiencyingroup125.51.GlycogenstoragediseasesMuscleglycogenin1deficiency Glycogenstoragediseasetype15;polyglucosanbody
myopathytype2AR GYG1 603942
Muscleglycogensynthasedeficiency Glycogenstoragediseasetype0b AR GYS1 138570Hepaticglycogensynthasedeficiency Glycogenstoragediseasetype0a AR GYS2 138571Glucose-6-phosphatetransporterdeficiency
Glycogenstoragediseasetype1b AR SLC37A4 602671
α-glucosidasedeficiency Glycogenstoragediseasetype2;Pompedisease AR GAA 606800Glycogendebranchingenzymedeficiency Glycogenstoragediseasetype3;Cori-Forbesdisease;
limitdextrinosisAR AGL 610860
Glycogenbranchingenzymedeficiency Glycogenstoragediseasetype4;Andersendisease;adultpolyglucosanbodydisease
AR GBE1 607839
Muscleglycogenphosphorylasedeficiency
Glycogenstoragediseasetype5;McArdledisease AR PYGM 608455
Liverglycogenphosphorylasedeficiency Glycogenstoragediseasetype6;Hersdisease AR PYGL 613741Hepaticphosphorylasekinaseα2subunitdeficiency
Glycogenstoragediseasetype9a XLR PHKA2 300798
Phosphorylasekinaseβsubunitdeficiency
Glycogenstoragediseasetype9b AR PHKB 172490
Hepaticphosphorylasekinaseγ2subunitdeficiency
Glycogenstoragediseasetype9c AR PHKG2 172471
Musclephosphorylasekinaseα1subunitdeficiency
Glycogenstoragediseasetype9d AR PHKA1 311870
HOIL1deficiency Polyglucosanbodymyopathytype1;HOILdeficiency AR RBCK1 610924Cardiacphosphorylasekinasedeficiency AD PRKAG2 602743Lysosome-associatedmembraneprotein2deficiency
Danondisease XL LAMP2 309060
Laforindeficiency Progressivemyoclonicepilepsytype2A AR EPM2A 607566Malindeficiency Progressivemyoclonicepilepsytype2B AR NHLRC1 608072Seealso:α-glucosidasedeficiencyingroup51,glucose-6-phosphatasedeficiencyingroup52,musclephosphofructokinase,aldolaseA,enolaseβ,musclephosphoglyceratemutase,andlactatedehydrogenaseAdeficienciesingroup53,andphosphoglucomutase1deficiencyingroup125.52.DisordersofgluconeogenesisGlucose-6-phosphatasedeficiency Glycogenstoragediseasetype1a AR G6PC 613742Fructose-1,6-bisphosphatasedeficiency AR FBP1 611570Pyruvatecarboxylasedeficiency AR PC 608786Cytosolicphosphoenolpyruvatecarboxykinasedeficiency
AR PCK1 614168
53.DisordersofglycolysisHemolyticanemiaduetohexokinasedeficiency
AR HK1 142600
Hereditarymotorandsensoryneuropathy,Russetype
Charcot-Marie-Toothdiseasetype4G AR HK1 142600
Retinitispigmentosatype79 AD HK1 142600Glucokinasedeficiency Permanentneonataldiabetesmellitus;MODYtype2 AD GCK 138079Glucokinasesuperactivity Familialhyperinsulinemichypoglycemiatype3 AD GCK 138079Glucose-6-phosphateisomerasedeficiency
AR GPI 172400
Musclephosphofructokinasedeficiency Glycogenstoragediseasetype7;Taruidisease AR PFKM 610681AldolaseAdeficiency Glycogenstoragediseasetype12 AR ALDOA 103850Triosephosphateisomerasedeficiency AR TPI1 190450Phosphoglyceratekinasedeficiency XLR PGK1 311800
Musclephosphoglyceratemutasedeficiency
Glycogenstoragediseasetype10;DiMaurodisease AR PGAM2 612931
Enolaseβdeficiency Glycogenstoragediseasetype13 AR ENO3 131370Pyruvatekinasedeficiency AR PKLR 609712LactatedehydrogenaseAdeficiency Glycogenstoragediseasetype11 AR LDHA 150000LactatedehydrogenaseBdeficiency AD,AR LDHB 150100
D.MITOCHONDRIALDISORDERSOFENERGYMETABOLISM54.DisordersofpyruvatemetabolismPyruvatedehydrogenaseE1-αdeficiency XL PDHA1 300502PyruvatedehydrogenaseE1-βdeficiency AR PDHB 179060Dihydrolipoamideacetyltransferasedeficiency
PyruvatedehydrogenaseE2deficiency AR DLAT 608770
PyruvatedehydrogenaseE3-bindingproteindeficiency
PyruvatedehydrogenasecomponentXdeficiency AR PDHX 608769
Pyruvatedehydrogenasephosphatasedeficiency
AR PDP1 605993
Mitochondrialpyruvatecarrierdeficiency AR MPC1 614738Pyruvatedehydrogenasekinaseisoenzyme3superactivity
XLD PDK3 300906
Seealso:Dihydrolipoamidedehydrogenasedeficiencyingroup14,andpyruvatecarboxylasedeficiencyingroup52.55.DisordersoftheKrebscycleMitochondrialaconitasedeficiency Infantilecerebellar-retinaldegeneration AR ACO2 100850MitochondrialNADH-dependentisocitratedehydrogenase2superactivity
D-2-hydroxyglutaricaciduriatype2 AD IDH2 147650
MitochondrialNADPH-dependentisocitratedehydrogenase3βsubunitdeficiency
AR IDH3B 604526
ATP-specificsuccinyl-CoAligaseβsubunitdeficiency
MitochondrialDNAdepletionsyndrometype5 AR SUCLA2 603921
GTP-specificsuccinyl-CoAligaseαsubunitdeficiency
MitochondrialDNAdepletionsyndrometype9 AR SUCLG1 611224
Fumaratehydratasedeficiency Fumarasedeficiency AR FH 136850Fumaratehydratasedeficiency,tumoralphenotype
Reedsyndrome AD FH 136850
Mitochondrialmalatedehydrogenasedeficiency
Earlyinfantileepilepticencephalopathytype51 AR MDH2 154100
Seealso:Dihydrolipoamidedehydrogenasedeficiencyingroup14,succinatedehydrogenasesubunitsA,B,CandDdeficienciesingroup60,andsuccinatedehydrogenaseassemblyfactors1and2deficienciesingroup61.56.DisordersofmetaboliterepairD-2-hydroxyglutaratedehydrogenasedeficiency
D-2-hydroxyglutaricaciduriatype1 AR D2HGDH 609186
L-2-hydroxyglutaratedehydrogenasedeficiency
L-2-hydroxyglutaricaciduria AR L2HGDH 609584
Seealso:NAD(P)HXepimerasedeficiencyandNAD(P)HXdehydratasedeficiencyingroup31.57.DisordersofmitochondrialcarriersAdeninenucleotidetranslocatordeficiency
MitochondrialDNAdepletionsyndrometype12(cardiomyopathictype);adPEOwithmitochondrialDNAdeletionstype2
AD,AR SLC25A4 103220
Mitochondrialphosphatecarrierdeficiency
AR SLC25A3 600370
Mitochondrialaspartate-glutamatecarrierisoform1deficiency
Earlyinfantileepilepticencephalopathytype39;aralar1deficiency
AR SLC25A12 603667
Cytosolicglycerol-3-phosphatedehydrogenasedeficiency
Transientinfantilehypertriglyceridemia AR GPD1 138420
S-adenosylmethioninecarrierdeficiency Combinedoxidativephosphorylationdeficiencytype28
AR SLC25A26 611037
Mitochondrialcitratecarrierdeficiency CombinedD-2-andL-2-hydroxyglutaricaciduria AR SLC25A1 190315MitochondrialATP-Mg/phosphatetransporterdeficiency
Gorlin-Chaudhry-Mosssyndrome;Fontainesyndrome
AD SLC25A24 608744
Seealso:Mitochondrialornithinetransporterandcitrindeficienciesingroup7,mitochondrialglutamatetransporterdeficiencyingroup20,mitochondrialglycinetransporterdeficiencyingroup24,mitochondrialthiaminepyrophosphatetransporterdeficiencyingroup29,mitochondrialflavinadeninedinucleotidetransporterdeficiencyingroup30,mitochondrialpyruvatecarrierdeficiencyingroup54,andcarnitine-acylcarnitinetranslocasedeficiencyingroup82.58.DisordersofcomplexIsubunitsNADHdehydrogenaseflavoprotein1deficiency
AR NDUFV1 161015
NADHdehydrogenaseflavoprotein2deficiency
AR NDUFV2 600532
NADHdehydrogenaseiron-sulfurprotein1deficiency
AR NDUFS1 157655
NADHdehydrogenaseiron-sulfurprotein2deficiency
AR NDUFS2 602985
NADHdehydrogenaseiron-sulfurprotein3deficiency
AR NDUFS3 603846
NADHdehydrogenaseiron-sulfurprotein7deficiency
AR NDUFS7 601825
NADHdehydrogenaseiron-sulfurprotein8deficiency
AR NDUFS8 602141
NADHdehydrogenaseiron-sulfurprotein4deficiency
AR NDUFS4 602694
NADHdehydrogenaseiron-sulfurprotein6deficiency
AR NDUFS6 603848
NADHdehydrogenaseαsubcomplexsubunit1deficiency
XLR NDUFA1 300078
NADHdehydrogenaseαsubcomplexsubunit2deficiency
AR NDUFA2 602137
NADHdehydrogenaseαsubcomplexsubunit9deficiency
AR NDUFA9 603834
NADHdehydrogenaseαsubcomplexsubunit10deficiency
AR NDUFA10 603835
NADHdehydrogenaseαsubcomplexsubunit12deficiency
AR NDUFA12 614530
NADHdehydrogenaseβsubcomplexsubunit3deficiency
AR NDUFB3 603839
NADHdehydrogenaseβsubcomplexsubunit8deficiency
AR NDUFB8 602140
NADHdehydrogenaseβsubcomplexsubunit11deficiency
Linearskindefectswithmultiplecongenitalanomaliestype3
XL NDUFB11 300403
NADHdehydrogenasecoresubunit1deficiency
Mit MT-ND1 516000
NADHdehydrogenasecoresubunit2deficiency
Mit MT-ND2 516001
NADHdehydrogenasecoresubunit3deficiency
Mit MT-ND3 516002
NADHdehydrogenasecoresubunit4deficiency
Mit MT-ND4 516003
NADHdehydrogenasecoresubunit4Ldeficiency
Mit MT-ND4L 516004
NADHdehydrogenasecoresubunit5deficiency
Mit MT-ND5 516005
NADHdehydrogenasecoresubunit6deficiency
Mit MT-ND6 516006
59.DisordersofcomplexIassemblyNADHdehydrogenaseαsubcomplexassemblyfactor1deficiency
AR NDUFAF1 606934
NADHdehydrogenaseαsubcomplexassemblyfactor2deficiency
AR NDUFAF2 609653
NADHdehydrogenaseαsubcomplexassemblyfactor3deficiency
AR NDUFAF3 612911
NADHdehydrogenaseαsubcomplexassemblyfactor4deficiency
AR NDUFAF4 611776
NADHdehydrogenaseαsubcomplexassemblyfactor5deficiency
AR NDUFAF5 612360
NADHdehydrogenaseαsubcomplexassemblyfactor6deficiency
AR NDUFAF6 612392
FOXRED1deficiency AR FOXRED1 613622NUBPLdeficiency AR NUBPL 613621ACAD9deficiency AR ACAD9 611103Transmembraneprotein126Bdeficiency AR TMEM126B 61553360.DisordersofcomplexIIsubunitsSuccinatedehydrogenasesubunitAdeficiency
AR SDHA 600857
SuccinatedehydrogenasesubunitAdeficiency,tumoralphenotype
Hereditaryparagangliomasyndrometype5 AD SDHA 600857
SuccinatedehydrogenasesubunitBdeficiency
AR SDHB 185470
SuccinatedehydrogenasesubunitBdeficiency,tumoralphenotype
Hereditaryparagangliomasyndrometype4;Cowdensyndrometype2
AD SDHB 185470
SuccinatedehydrogenasesubunitCdeficiency,tumoralphenotype
Hereditaryparagangliomasyndrometype3 AD SDHC 602413
SuccinatedehydrogenasesubunitDdeficiency
AR SDHD 602690
SuccinatedehydrogenasesubunitDdeficiency,tumoralphenotype
Hereditaryparagangliomasyndrometype1;Cowdensyndrometype3
AD SDHD 602690
61.DisordersofcomplexIIassemblySuccinatedehydrogenasecomplexassemblyfactor1deficiency
AR SDHAF1 612848
Succinatedehydrogenasecomplexassemblyfactor2deficiency,tumoralphenotype
Hereditaryparagangliomasyndrometype2 AD SDHAF2 613019
62.DisordersofcomplexIIIsubunitsUQCRBdeficiency AR UQCRB 191330UQCRC2deficiency AR UQCRC2 191329Seealso:Mitochondrialcytochromec1deficiencyingroup68.63.DisordersofcomplexIIIassemblyBCS1Ldeficiency GRACILEsyndrome;Björnstadsyndrome AR BCS1L 603647TTC19deficiency AR TTC19 613814UQCC2deficiency AR UQCC2 614461LYRM7deficiency AR LYRM7 61583164.DisordersofcomplexIVsubunitsCytochromecoxidasesubunit1deficiency
Mit MT-CO1 516030
Cytochromecoxidasesubunit2deficiency
Mit MT-CO2 516040
Cytochromecoxidasesubunit3deficiency
Mit MT-CO3 516050
Cytochromecoxidasesubunit4I2deficiency
Exocrinepancreaticinsufficiency,dyserythropoieticanemia,andcalvarialhyperostosis
AR COX4I2 607976
Cytochromecoxidasesubunit6A1deficiency
RecessiveintermediateCharcot-Marie-ToothdiseasetypeD
AR COX6A1 602072
Cytochromecoxidasesubunit6B1deficiency
AR COX6B1 124089
Cytochromecoxidasesubunit7Bdeficiency
Linearskindefectswithmultiplecongenitalanomaliestype2
XL COX7B 300885
65.DisordersofcomplexIVassemblyandancillaryproteinsCytochromecoxidaseassemblyfactor6deficiency
AR COA6 614772
COX10deficiency AR COX10 602125COX15deficiency AR COX15 603646COX20deficiency AR COX20 614698SCO1deficiency AR SCO1 603644SCO2deficiency AR SCO2 604272SURF1deficiency AR SURF1 185620LRPPRCdeficiency AR LRPPRC 607544TACO1deficiency AR TACO1 612958PET100deficiency AR PET100 614770FASTKD2deficiency AR FASTKD2 612322APOPT1deficiency AR APOPT1 616003Seealso:Mitochondrialphosphatecarrierdeficiencyingroup57.66.DisordersofcomplexVsubunitsMitochondrialATPsynthaseF1subunitαdeficiency
AR ATP5F1A 164360
MitochondrialATPsynthaseF1subunitδdeficiency
AR ATP5F1D 603150
MitochondrialATPsynthaseF1subunitεdeficiency
AR ATP5F1E 606153
MitochondrialATPsynthaseF0subunit6deficiency
Mit MT-ATP6 516060
MitochondrialATPsynthaseF0subunit8deficiency
Mit MT-ATP8 516070
67.DisordersofcomplexVassemblyTransmembraneprotein70deficiency AR TMEM70 61241868.DisordersofmitochondrialcytochromesynthesisandincorporationMitochondrialcytochromebdeficiency Mit MT-CYB 516020Mitochondrialcytochromec1deficiency AR CYC1 123980Mitochondrialcytochromecdeficiency Thrombocytopeniatype4 AD CYCS 123970
Holocytochromecsynthasedeficiency Linearskindefectswithmultiplecongenitalanomaliestype1
XLD HCCS 300056
69.DisordersofmitochondrialDNAdepletion,multipledeletion,orintergenomiccommunicationMitochondrialDNApolymeraseγcatalyticsubunitdeficiency
MitochondrialDNAdepletionsyndrometype1;Alpers-Huttenlochersyndrome;mitochondrialrecessiveataxiasyndrome(MIRAS);arPEOtype1;adPEOtype1
AD,AR POLG 174763
MitochondrialDNApolymeraseγaccessorysubunitdeficiency
adPEOwithmitochondrialDNAdeletionstype4 AD POLG2 604983
Mitochondrialdeoxyguanosinekinasedeficiency
MitochondrialDNAdepletionsyndrometype3;arPEOwithmitochondrialDNAdeletionstype4;noncirrhoticportalhypertension
AR DGUOK 601465
MPV17deficiency MitochondrialDNAdepletionsyndrometype6 AR MPV17 137960TWINKLEmitochondrialDNAhelicasedeficiency
MitochondrialDNAdepletionsyndrometype7;Perraultsyndrometype5;arPEOwithmitochondrialDNAdeletionstype5
AR TWNK 606075
Mitochondrialthymidinekinasedeficiency
MitochondrialDNAdepletionsyndrometype2 AR TK2 188250
Mitochondrialribonucleotidereductasesmallsubunitdeficiency
MitochondrialDNAdepletionsyndrometype8;adPEOwithmitochondrialDNAdeletionstype5
AD,AR RRM2B 604712
Thymidinephosphorylasedeficiency Mitochondrialneurogastrointestinalencephalopathysyndrome
AR TYMP 131222
DNA2helicasedeficiency adPEOwithmitochondrialDNAdeletionstype6 AD DNA2 601810MitochondrialribonucleaseH1deficiency arPEOwithmitochondrialDNAdeletionstype2 AR RNASEH1 604123Mitochondrialgenomemaintenanceexonuclease1deficiency
MitochondrialDNAdepletionsyndrometype11 AR MGME1 615076
FBXL4deficiency MitochondrialDNAdepletionsyndrometype13 AR FBXL4 605654Seealso:ATP-specificsuccinyl-CoAligaseβsubunitandGTP-specificsuccinyl-CoAligaseαsubunitdeficienciesingroup55,andadeninenucleotidetranslocatordeficiencyingroup57.70.DisordersofmitochondrialtranscriptionandRNAtranscriptprocessingMitochondrialRNAimportproteindeficiency
Combinedoxidativephosphorylationdeficiencytype13
AR PNPT1 610316
RibonucleaseP5'tRNAprocessingenzymedeficiency
Combinedoxidativephosphorylationdeficiency30 AR TRMT10C 615423
RibonucleaseZ3'tRNAprocessingenzymedeficiency
Combinedoxidativephosphorylationdeficiency17 AR ELAC2 605367
Mitochondrialpoly(A)polymerasedeficiency
AR MTPAP 613669
CCA-addingtRNA-nucleotidyltransferasedeficiency
SideroblasticanemiawithB-cellimmunodeficiency,periodicfevers,anddevelopmentaldelay(severe);retinitispigmentosaanderythrocyticmicrocytosis(milder)
AR TRNT1 612907
Mitochondrialmethionyl-tRNAformyltransferasedeficiency
Combinedoxidativephosphorylationdeficiencytype15
AR MTFMT 611766
tRNA5-taurinomethyluridinemodifierdeficiency
Combinedoxidativephosphorylationdeficiencytype23
AR GTPBP3 608536
tRNA5-carboxymethylaminomethyltransferasedeficiency
Combinedoxidativephosphorylationdeficiencytype10
AR MTO1 614667
Pseudouridinesynthase1deficiency Myopathy,lacticacidosis,andsideroblasticanemiatype1
AR PUS1 608109
tRNAisopentenyltransferasedeficiency AR TRIT1 617840tRNAmethyltransferase5deficiency Combinedoxidativephosphorylationdeficiencytype
26AR TRMT5 611023
tRNA5-methylaminomethyl-2-thiouridylate-methyltransferasedeficiency
Transientinfantileliverfailure AR TRMU 610230
MitochondrialRNA-processingendoribonucleasedeficiency
Cartilage-hairhypoplasia;metaphysealdysplasiawithouthypotrichosis;anauxeticdysplasiatype1
AR RMRP 157660
Seealso:HSD10diseaseingroup14.71.MitochondrialribosomopathiesMitochondrialribosomallargesubunit3deficiency
Combinedoxidativephosphorylationdeficiencytype9
AR MRPL3 607118
Mitochondrialribosomallargesubunit44deficiency
Combinedoxidativephosphorylationdeficiencytype16
AR MRPL44 611849
Mitochondrialribosomalsmallsubunit16deficiency
Combinedoxidativephosphorylationdeficiencytype2
AR MRPS16 609204
Mitochondrialribosomalsmallsubunit22deficiency
Combinedoxidativephosphorylationdeficiencytype5
AR MRPS22 605810
Mitochondrialribosomalsmallsubunit34deficiency
Combinedoxidativephosphorylationdeficiencytype32
AR MRPS34 611994
MitochondrialribosomalRNA12Sdeficiency
Mit MT-RNR1 561000
MitochondrialribosomalRNA16Sdeficiency
Mit MT-RNR2 561010
72.DisordersofmitochondrialtranslationfactorsRMND1deficiency Combinedoxidativephosphorylationdeficiencytype
11AR RMND1 614917
MitochondrialelongationfactorG1deficiency
Combinedoxidativephosphorylationdeficiencytype1
AR GFM1 606639
MitochondrialelongationfactorG2deficiency
AR GFM2 606544
MitochondrialelongationfactorTsdeficiency
Combinedoxidativephosphorylationdeficiencytype3
AR TSFM 604723
MitochondrialelongationfactorTudeficiency
Combinedoxidativephosphorylationdeficiencytype4
AR TUFM 602389
C12orf65releasefactordeficiency Combinedoxidativephosphorylationdeficiencytype7;autosomalrecessivespasticparaplegiatype55
AR C12orf65 613541
73.DisordersofmitochondrialtRNAMitochondrialtRNA(Ala)deficiency Mit MT-TA 590000MitochondrialtRNA(Arg)deficiency Mit MT-TR 590005MitochondrialtRNA(Asn)deficiency Mit MT-TN 590010MitochondrialtRNA(Asp)deficiency Mit MT-TD 590015MitochondrialtRNA(Cys)deficiency Mit MT-TC 590020MitochondrialtRNA(Glu)deficiency Mit MT-TE 590025MitochondrialtRNA(Gln)deficiency Mit MT-TQ 590030MitochondrialtRNA(Gly)deficiency Mit MT-TG 590035MitochondrialtRNA(His)deficiency Mit MT-TH 590040MitochondrialtRNA(Ile)deficiency Mit MT-TI 590045MitochondrialtRNA(Leu)1deficiency Mit MT-TL1 590050MitochondrialtRNA(Le)2deficiency Mit MT-TL2 590055MitochondrialtRNA(Lys)deficiency Mit MT-TK 590060MitochondrialtRNA(Met)deficiency Mit MT-TM 590065MitochondrialtRNA(Phe)deficiency Mit MT-TF 590070MitochondrialtRNA(Pro)deficiency Mit MT-TP 590075MitochondrialtRNA(Ser)1deficiency Mit MT-TS1 590080
MitochondrialtRNA(Ser)2deficiency Mit MT-TS2 590085MitochondrialtRNA(Thr)deficiency Mit MT-TT 590090MitochondrialtRNA(Trp)deficiency Mit MT-TW 590095MitochondrialtRNA(Tyr)deficiency Mit MT-TY 590100MitochondrialtRNA(Val)deficiency Mit MT-TV 59010574.DisordersofmitochondrialtRNAincorporationandrecyclingMitochondrialalanyl-tRNAsynthetasedeficiency
Combinedoxidativephosphorylationdeficiencytype8;progressiveleukoencephalopathywithovarianfailure
AR AARS2 612035
Mitochondrialarginine-tRNAsynthetasedeficiency
Pontocerebellarhypoplasiatype6 AR RARS2 611524
Mitochondrialasparaginyl-tRNAsynthetasedeficiency
Combinedoxidativephosphorylationdeficiencytype24
AR NARS2 612803
Mitochondrialaspartyl-tRNAsynthetasedeficiency
Leukoencephalopathywithbrainstemandspinalcordinvolvementandlactateelevation
AR DARS2 610956
Mitochondrialcysteinyl-tRNAsynthetasedeficiency
Combinedoxidativephosphorylationdeficiencytype27
AR CARS2 612800
Mitochondrialglutamyl-tRNAsynthetasedeficiency
Combinedoxidativephosphorylationdeficiencytype12
AR EARS2 612799
Mitochondrialhistidyl-tRNAsynthetasedeficiency
Perraultsyndrometype2 AR HARS2 600783
Mitochondrialisoleucyl-tRNAsynthetasedeficiency
Cataracts,growthhormonedeficiency,sensoryneuropathy,sensorineuralhearingloss,andskeletaldysplasia(CAGSSS)
AR IARS2 612801
Mitochondrialleucyl-tRNAsynthetasedeficiency
Perraultsyndrometype4 AR LARS2 604544
Mitochondrialmethionyl-tRNAsynthetasedeficiency
Autosomalrecessivespasticataxiatype3 AR MARS2 609728
Mitochondrialphenylalanyl-tRNAsynthetasedeficiency
Combinedoxidativephosphorylationdeficiencytype14;autosomalrecessivespasticparaplegiatype77
AR FARS2 611592
Mitochondrialseryl-tRNAsynthetasedeficiency
Hyperuricemia,pulmonaryhypertension,renalfailure,andalkalosis(HUPRA)
AR SARS2 612804
Mitochondrialtyrosyl-tRNAsynthetasedeficiency
Myopathy,lacticacidosis,andsideroblasticanemiatype2
AR YARS2 610957
Mitochondrialvalyl-tRNAsynthetasedeficiency
Combinedoxidativephosphorylationdeficiencytype20
AR VARS2 612802
Mitochondrialtryptophanyl-tRNAsynthetasedeficiency
Mitochondrialneurodevelopmentaldisorderwithabnormalmovementsandlacticacidosis,withorwithoutseizures
AR WARS2 604733
Mitochondrialandcytoplasmicglycil-tRNAsynthetasedeficiency
Charcot-Marie-Toothdiseasetype2D;distalhereditarymotorneuronopathytype5A
AD GARS 600287
Mitochondrialandcytoplasmiclysyl-tRNAsynthetasedeficiency
AR KARS 601421
Peptidyl-tRNAhydrolase2deficiency Infantile-onsetmultisystemneurologic,endocrine,andpancreaticdisease
AR PTRH2 608625
75.DisordersofmitochondrialfissionDynamin-likeprotein1deficiency Opticatrophytype5;encephalopathydueto
defectivemitochondrialandperoxisomalfissiontype1
AD,AR DNM1L 603850
Mitochondrialfissionfactordeficiency Encephalopathyduetodefectivemitochondrialandperoxisomalfissiontype2
AR MFF 614785
GDAP1deficiency AxonalCharcot-Marie-Toothtype2K;demyelinatingCharcot-Marie-Toothdiseasetype4A
AD,AR GDAP1 606598
STAT2deficiency Immunodeficiencytype44 AR STAT2 600556UGO-1likeproteindeficiency Hereditarymotorandsensoryneuropathytype6B AR SLC25A46 61082676.DisordersofmitochondrialfusionOPA1deficiency Opticatrophytype1(dominant);Behrsyndrome
(recessive)AD,AR OPA1 605290
OPA3deficiency Opticatrophytype3(dominant);3-methylglutaconicaciduriatype3,Costeffsyndrome(recessive)
AD,AR OPA3 606580
Mitofusin2deficiency AxonalCharcot-Marie-Toothtype2A2 AD,AR MFN2 608507MSTO1deficiency Mitochondrialmyopathyandataxia AD,AR MSTO1 61761977.DisordersofmitochondrialphospholipidmetabolismAcylglycerolkinasedeficiency Sengerssyndrome AR AGK 610345SERAC1deficiency 3-methylglutaconicaciduriawithdeafness,
encephalopathy,andLeigh-likesyndrome(MEGDEL)AR SERAC1 614725
Taffazindeficiency Barthsyndrome XLR TAZ 300394PNPLA8deficiency Mitochondrialmyopathywithlacticacidosis
AR PNPLA8 612123
78.DisordersofmitochondrialproteinimportDNAJC19deficiency Dilatedcardiomyopathywithataxia(DCMA
syndrome);3-methylglutaconicaciduriatype5AR DNAJC19 608977
TIMM8Adeficiency Mohr-Tranebjaergsyndrome XLR TIMM8A 300356TIMMDC1deficiency AR TIMMDC1 615534TIMM50deficiency 3-methylglutaconicaciduriatype9 AR TIMM50 607381GFERdeficiency AR GFER 600924MAGMASdeficiency Spondylometaphysealdysplasia,Megarbane-Dagher-
MeliketypeAR PAM16 614336
Seealso:Acylglycerolkinasedeficiencyingroup77.79.DisordersofmitochondrialproteinqualitycontrolMitochondrialprocessingpeptidaseαdeficiency
Autosomalrecessivespinocerebellarataxiatype2 AR PMPCA 613036
Mitochondrialintermediatepeptidasedeficiency
Combinedoxidativephosphorylationdeficiencytype31
AR MIPEP 602241
CLPBdeficiency 3-methylglutaconicaciduriatype7,withcataracts,neurologicinvolvementandneutropenia
AR CLPB 616254
CLPPdeficiency Perraultsyndrometype3 AR CLPP 601119LONP1deficiency Cerebral,ocular,dental,auricular,and
skeletal(CODAS)syndromeAR LONP1 605490
HSPA9deficiency Sideroblasticanemiatype4;epiphyseal,vertebral,ear,nose,plusassociatedmalformations(EVEN-plus)syndrome
AR HSPA9 600548
HSP60deficiency Hypomyelinatingleukodystrophytype4(recessive);autosomaldominantspasticparaplegiatype13
AD,AR HSPD1 118190
Sacsindeficiency AutosomalrecessivespasticataxiaofCharlevoix-Saguenay
AR SACS 604490
m-AAAproteaseAFG3L2subunitdeficiency
Autosomalrecessivespasticataxiatype5;spinocerebellarataxiatype28
AR AFG3L2 604581
Paraplegindeficiency Spasticparaplegiatype7 AD,AR SPG7 602783HTRA2deficiency 3-methylglutaconicaciduriatype8 AR HTRA2 606441Parkindeficiency Early-onsetParkinsondiseasetype2 AR PRKN 602544PINK1deficiency Early-onsetParkinsondiseasetype6 AR PINK1 608309USP9Xdeficiency X-linkedmentalretardationtype99 XL USP9X 300072
Valosin-containingproteinsuperactivity Inclusionbodymyopathywithearly-onsetPagetdiseaseandfrontotemporaldementiatype1
AD VCP 601023
Seealso:X-prolylaminopeptidase3deficiencyingroup16.80.OtherdisordersofmitochondrialhomeostasisMitochondrialinorganicpyrophosphatase2deficiency
AR PPA2 609988
Sideroflexin4deficiency Combinedoxidativephosphorylationdeficiencytype18
AR SFXN4 615564
AIFM1deficiency Combinedoxidativephosphorylationdeficiencytype6;Cowchocksyndrome
XLR AIFM1 300169
ATAD3Adeficiency Harel-Yoonsyndrome AD,AR ATAD3A 612316Transmembraneprotein126Adeficiency Opticatrophytype7 AR TMEM126A 612988C1qbindingproteindeficiency Combinedoxidativephosphorylationdeficiencytype
33AR C1QBP 601269
Traffickingkinesin-bindingprotein1deficiency
AR TRAK1 608112
Mitochondrialcalciumuniporterdeficiency
Myopathywithextrapyramidalsigns AR MICU1 605084
Nogo-interactingmitochondrialproteindeficiency
Opticatrophytype10 AR RTN4IP1 610502
81.PrimaryCoQ10deficienciesPrenyldiphosphatesynthasesubunit1deficiency
PrimarycoenzymeQ10deficiencytype2 AR PDSS1 607429
Prenyldiphosphatesynthasesubunit2deficiency
PrimarycoenzymeQ10deficiencytype3 AR PDSS2 610564
COQ2deficiency PrimarycoenzymeQ10deficiencytype1 AR COQ2 609825COQ4deficiency PrimarycoenzymeQ10deficiencytype7 AR COQ4 612898COQ6deficiency PrimarycoenzymeQ10deficiencytype6 AR COQ6 614647COQ7deficiency PrimarycoenzymeQ10deficiencytype8 AR COQ7 601683COQ8Adeficiency PrimarycoenzymeQ10deficiencytype4;ADCK3
deficiencyAR COQ8A 606980
COQ8Bdeficiency Nephroticsyndrometype9;ADCK4deficiency AR COQ8B 615567COQ9deficiency PrimarycoenzymeQ10deficiencytype5
AR COQ9 612837
E.DISORDERSOFLIPIDS82.DisordersofcarnitinemetabolismPrimarycarnitinedeficiency AR SLC22A5 603377Carnitinepalmitoyltransferase1Adeficiency
AR CPT1A 600528
Carnitinepalmitoyltransferase2deficiency
AR CPT2 600650
Carnitine-acylcarnitinetranslocasedeficiency
AR SLC25A20 613698
ε-N-trimethyllysinehydroxylasedeficiency
XLR TMHLE 300777
83.DisordersoffattyacidoxidationandtransportShort-chainacyl-CoAdehydrogenasedeficiency
AR ACADS 606885
Medium-chainacyl-CoAdehydrogenasedeficiency
AR ACADM 607008
Verylong-chainacyl-CoAdehydrogenasedeficiency
AR ACADVL 609575
Short-chain3-hydroxyacyl-CoAdehydrogenasedeficiency
Familialhyperinsulinemichypoglycemiatype4 AR HADH 601609
Trifunctionalproteinαsubunitdeficiency Long-chainhydroxyacyl-CoAdehydrogenaseorcompletemitochondrialtrifunctionalproteindeficiency
AR HADHA 600890
Trifunctionalproteinβsubunitdeficiency Completemitochondrialtrifunctionalproteindeficiency
AR HADHB 143450
Fattyacidtransportprotein4deficiency Ichthyosisprematuritysyndrome AR SLC27A4 604194Docosahexanoicacidtransporterdeficiency
Autosomalrecessiveprimarymicrocephalytype15 AR MFSD2A 614397
TANGO2deficiency Metabolicencephalomyopathiccrisesassociatedwithrhabdomyolysis,cardiacarrhythmias,andneurodegeneration(MECRCN)
AR TANGO2 616830
Seealso:ACAD9deficiencyingroup59.84.DisordersofketonebodymetabolismMitochondrial3-hydroxy-3-methylglutaryl-CoAsynthasedeficiency
AR HMGCS2 600234
Succinyl-CoA:3-oxoacid-CoAtransferasedeficiency
AD,AR OXCT1 601424
Mitochondrialacetoacetyl-CoAthiolasedeficiency
β-ketothiolasedeficiency;α-methylacetoaceticaciduria
AR ACAT1 607809
Monocarboxylatetransporter1deficiency AD,AR SLC16A1 600682Monocarboxylatetransporter1superactivity
Familialhyperinsulinemichypoglycemiatype7 AD SLC16A1 600682
Seealso:3-Hydroxy-3-methylglutaryl-CoAlyasedeficiencyingroup14.85.DisordersoffattyacidsynthesisandelongationMitochondrialenoyl-CoAreductasedeficiency
Mitochondrialenoyl-CoAreductaseprotein-associatedneurodegeneration(MEPAN)
AR MECR 608205
Verylong-chainfattyacidelongase1deficiency
Ichthyotickeratoderma,spasticity,hypomyelinationanddysmorphicfeatures(IKSHD)
AD ELOVL1 611813
Verylong-chainfattyacidelongase4deficiency,neurologicphenotype
Pseudo-Sjögren-Larssonsyndrome(recessive);spinocerebellarataxiatype34(dominant)
AD,AR ELOVL4 605512
Verylong-chainfattyacidelongase4deficiency,retinalphenotype
Stargardtdiseasetype3 AD ELOVL4 605512
Verylong-chainfattyacidelongase5deficiency
Spinocerebellarataxiatype38 AD ELOVL5 611805
86.DisorderoffattyaldehydemetabolismFattyaldehydedehydrogenasedeficiency Sjögren-Larssonsyndrome AR ALDH3A2 60952387.DisordersofglycerolmetabolismGlycerolkinasedeficiency XLR GK 300474Glyceratekinasedeficiency D-glycericaciduria AR GLYCTK 610516Aquaporin7deficiency Hyperglyceroluriawithmildplateletsecretiondefect AR AQP7 602974Seealso:Cytosolicglycerol-3-phosphatedehydrogenasedeficiencyingroup57.88.DisordersofcytoplasmictriglyceridemetabolismLong-chainfattyacid-CoAligase4deficiency
X-linkedmentalretardation63 XL ACSL4 300157
Lysophosphatidicacidacyltransferasedeficiency
Congenitalgeneralizedlipodystrophytype1,Berardinelli-Seipsyndrome
AR AGPAT2 603100
Lipin1deficiency AR LPIN1 605518Lipin2deficiency Majeedsyndrome AR LPIN2 605519Diacylglycerolacyltransferasedeficiency Congenitaldiarrheatype7 AR DGAT1 604900
CGI-58deficiency Chanarin-Dorfmansyndrome;neutrallipidstoragediseasewithichthyosis
AR ABHD5 604780
Adiposetriglyceridelipasedeficiency Neutrallipidstoragediseasewithmyopathy AR PNPLA2 609059Perilipin1deficiency Familialpartiallipodystrophytype4 AD PLIN1 170290Hormone-sensitivelipasedeficiency Familialpartiallipodystrophytype6 AR LIPE 15175089.Disordersofnon-mitochondrialphospholipidmetabolismCholinekinaseβdeficiency Congenitalmusculardystrophy,megaconialtype AR CHKB 612395Phosphocholinecytidylyltransferase1αdeficiency,retinoskeletalphenotype
AR PCYT1A 123695
Phosphocholinecytidylyltransferase1αdeficiency,lipodystrophyphenotype
AR PCYT1A 123695
Phosphatidylserinesynthase1superactivity
Lenz-Majewskisyndrome AD PTDSS1 612792
PhospholipaseA2group6deficiency Infantileneuroaxonaldystrophy;Seitelbergerdisease;neurodegenerationwithbrainironaccumulationtype2B
AR PLA2G6 603604
DDHD1deficiency Autosomalrecessivespasticparaplegiatype28 AR DDHD1 614603DDHD2deficiency Autosomalrecessivespasticparaplegiatype54 AR DDHD2 615003PNPLA6deficiency Autosomalrecessivespasticparaplegiatype39;
Oliver-McFarlanesyndrome;Boucher-Neuhausersyndrome;Laurence-Moonsyndrome
AR PNPLA6 603197
CYP2U1deficiency Autosomalrecessivespasticparaplegiatype56 AR CYP2U1 610670ABHD12deficiency Polyneuropathy,hearingloss,ataxia,retinitis
pigmentosa,andcataract(PHARC)syndrome,AR ABHD12 613599
Diacylglycerolkinaseεdeficiency Nephroticsyndrometype7;atypicalhemolyticuremicsyndrometype7
AR DGKE 601440
Seealso:Lipin1andlipin2deficienciesingroup88.90.Disordersofnon-lysosomalsphingolipidmetabolismSerinepalmitoyltransferasesubunit1deficiency
Hereditarysensoryandautonomicneuropathytype1A
AD SPTLC1 605712
Serinepalmitoyltransferasesubunit2deficiency
Hereditarysensoryandautonomicneuropathytype1C
AD SPTLC2 605713
Ceramidesynthase3deficiency Autosomalrecessivecongenitalichthyosistype9 AR CERS3 615276CYP4F22omegahydroxylasedeficiency Autosomalrecessivecongenitalichthyosistype5 AR CYP4F22 611495
Nonlysosomalglucosylceramidasedeficiency
Autosomalrecessivespasticparaplegiatype46 AR GBA2 609471
Fattyacid2-hydroxylasedeficiency Autosomalrecessivespasticparaplegiatype35;fattyacidhydroxylase-associatedneurodegeneration(FAHN)
AR FA2H 611026
Sphingosine-1-phosphatelyasedeficiency AR SGPL1 603729Ceramidetransferproteinsuperactivity Autosomaldominantmentalretardationtype34 AD COL4A3BP 604677Seealso:GM3synthase,GM2/GD2synthase,andGB3synthasedeficienciesingroup123.91.DisordersofeicosanoidmetabolismThromboxanesynthasedeficiency Ghosalhematodiaphysealsyndrome AR TBXAS1 27418015-hydroxyprostaglandindehydrogenasedeficiency
Primaryhypertrophicosteoarthropathytype1 AR HPGD 601688
Prostaglandintransporterdeficiency Primaryhypertrophicosteoarthropathytype2 AR SLCO2A1 60146092.DisordersofpalmitoylationZDHHC9palmitoyltransferasedeficiency X-linkedmentalretardation,Raymondtype XLR ZDHHC9 300646Porcupinepalmitoyltransferasedeficiency
Goltzsyndrome,focaldermalhypoplasia XLD PORCN 300651
Palmitoyl-proteinthioesterase1deficiency
Neuronalceroidlipofuscinosistype1;Santavuori-Haltiadisease
AR PPT1 600722
93.DisordersofphosphoinositidemetabolismPhosphatidylinositol3,5-bisphosphate-5-phosphatasedeficiency,neurologicphenotype
Amyotrophiclateralsclerosistype11(dominant);Charcot-Marie-Toothdiseasetype4J(recessive)
AD,AR FIG4 609390
Phosphatidylinositol3,5-bisphosphate-5-phosphatasedeficiency,neuroskeletalphenotype
Yunis-Varonsyndrome AR FIG4 609390
Phosphatidylinositol4,5-bisphosphate-5-phosphatasedeficiency
Lowesyndrome,Dentdiseasetype2 XLR OCRL 300535
Synaptojanin1deficiency Earlyinfantileepilepticencephalopathytype53;early-onsetParkinsondiseasetype20
AR SYNJ1 604297
Myotubularin1deficiency X-linkedmyotubularmyopathy XLR MTM1 300415Myotubularin-relatedprotein2deficiency Charcot-Marie-Toothdiseasetype4B1 AR MTMR2 603557Myotubularin-relatedprotein2regulatoryproteindeficiency
Charcot-Marie-Toothdiseasetype4B2 AR SBF2 607697
Myotubularin-relatedprotein2activatordeficiency
Charcot-Marie-Toothdiseasetype4B3 AR SBF1 603560
Catalyticphosphatidylinositol3-kinaseαsubunitsuperactivity
AD,somatic PIK3CA 171834
Catalyticphosphatidylinositol3-kinaseδsubunitsuperactivity
Immunodeficiencytype14 AD PIK3CD 602839
Phosphatidylinositol3-kinaseregulatorysubunit1deficiency
SHORTsyndrome,immunodeficiencytype36 AD PIK3R1 171833
Phosphatidylinositol3-kinaseregulatorysubunit2superactivity
Megalencephaly-polymicrogyria-polydactyly-hydrocephalussyndrometype1
AD PIK3R2 603157
Phosphatidylinositol-3-phosphate5-kinasedeficiency
Cornealfleckdystrophy AD PIKFYVE 609414
Phosphatidylinositol4-phosphate5-kinasedeficiency
Lethalcongenitalcontracturalsyndrometype3 AR PIP5K1C 606102
Phosphatidylinositol3,4,5-trisphosphate3-phosphatasedeficiency
PTENhamartomatumorsyndrome AD PTEN 601728
Phosphatidylinositol3,4,5-trisphosphate5-phosphatasedeficiency
Opsismodysplasia AR INPP1L 600829
Inositolpolyphosphate5-phosphatasedeficiency
Joubertsyndrometype1 AR INPP5E 613037
Phosphatidylinositol4,5-bisphosphatephospholipaseCβ1deficiency
Earlyinfantileepilepticencephalopathytype12 AR PLCB1 607120
Phosphatidylinositol4,5-bisphosphatephospholipaseCβ4deficiency
Auriculocondylarsyndrometype2 AD,AR PLCB4 600810
Phosphatidylinositol4,5-bisphosphatephospholipaseCγ2deficiency
AutoinflammationandPLCG2-associatedantibodydeficiencyandimmunedysregulation(APLAID);familialcoldautoinflammatorysyndrometype3
AD PLCG2 600220
Phosphatidylinositol4,5-bisphosphatephospholipaseCδ1deficiency
Nonsyndromiccongenitalnaildisordertype3;leukonychiatotalisand/orpartialis
AD,AR PLCD1 602142
Phosphatidylinositol4,5-bisphosphatephospholipaseCε1deficiency
Nephroticsyndrometype3 AR PLCE1 608414
Inositol1,4,5-triphosphatereceptortype1deficiency
Gillespiesyndrome;congenitalnon-progressivecerebellarataxia;spinocerebellarataxiatype15
AD,AR ITPR1 147265
94.DisordersoflipoproteinmetabolismLDLreceptordeficiency Familialhypercholesterolemia AD,AR LDLR 606945
LDLreceptoradaptorprotein1deficiency AR LDLRAP1 605747Hypercholesterolemiaduetoligand-defectiveapoB
AD APOB 107730
ApolipoproteinBdeficiency Familialhypobetalipoproteinemiatype1;normotriglyceridemichypobetalipoproteinemia
AR APOB 107730
PCSK9superactivity Familialhypercholesterolemiatype3 AD PCSK9 607786PCSK9deficiency AD PCSK9 607786STAP1deficiency Familialhypercholesterolemiatype4 AD STAP1 604298SitosterolemiaduetoABCG5deficiency AR ABCG5 605459SitosterolemiaduetoABCG8deficiency AR ABCG8 605460Angiopoietin-like3deficiency Familialhypobetalipoproteinemiatype2;combined
familialhypolipidemiaAR ANGPTL3 604774
Microsomaltriglyceridetransferproteindeficiency
Abetalipoproteinemia AR MTTP 157147
Chylomicronretentiondisease Andersondisease AR SAR1B 607690ApolipoproteinEdeficiency Dysbetalipoproteinemia;hyperlipoproteinemiatype
3AR APOE 107741
ApolipoproteinEsuperactivity Inheritedlipemicsplenomegaly;sea-bluehistiocytosis
AD APOE 107741
Lipoproteinglomerulopathy AD APOE 107741Lipoproteinlipasedeficiency Hyperlipoproteinemiatype1A AR LPL 609708ApolipoproteinC2deficiency Hyperlipoproteinemiatype1B AR APOC2 608083GPIHBP1deficiency Hyperlipoproteinemiatype1D AR GPIHBP1 612757Hepaticlipasedeficiency AR LIPC 151670Lipasematurationfactor1deficiency Combinedlipasedeficiency AR LMF1 611761ApolipoproteinA5deficiency Late-onsethyperchylomicronemia;
hyperlipoproteinemiatype5AD APOA5 606368
Lecithin:cholesterolacyltransferasedeficiency
Norumdisease(severe);fish-eyedisease(milder) AR LCAT 606967
Tangierdisease Analaphalipoproteinemia AR ABCA1 600046ApolipoproteinA1deficiency Hypoalphalipoproteinemia AD APOA1 107680HereditaryapolipoproteinA1-relatedamyloidosis
AD APOA1 107680
Cholesterylestertransferproteindeficiency
Hyperalphalipoproteinemiatype1 AD CETP 118470
ApolipoproteinC3deficiency Hyperalphalipoproteinemiatype2 AD APOC3 10772095.DisordersofcholesterolbiosynthesisMevalonatekinasedeficiency Mevalonicaciduria(severe);hyper-IgDsyndrome
(milder)AR MVK 251170
Mevalonatekinasedeficiency,porokeratosisphenotype
Porokeratosistype3 AD MVK 251170
Phosphomevalonatekinasedeficiency Porokeratosistype1 AD PMVK 607622Mevalonatepyrophosphatedecarboxylasedeficiency
Porokeratosistype7 AD MVD 603236
Farnesyldiphosphatesynthasedeficiency Porokeratosistype9 AD FDPS 134629SterolC14reductasedeficiency Hydrops-ectopiccalcification-moth-eaten(HEM)
dysplasia,Greenbergdysplasia(recessive);Pelger-Huëtanomaly(dominant)
AD,AR LBR 600024
Sterol-C4-methyloxidasedeficiency Microcephaly,congenitalcataract,andpsoriasiformdermatitis
AR MSMO1 607545
X-linkeddominantsterol-4-α-carboxylate3-dehydrogenasedeficiency
Congenitalhemidysplasiawithichythyosiformerythrodermaandlimbdefects(CHILD)syndrome
XLD NSDHL 300275
X-linkedrecessivesterol-4-α-carboxylate3-dehydrogenasedeficiency
CKsyndrome XLR NSDHL 300275
X-linkeddominantsterolΔ8-Δ7isomerasedeficiency
X-linkeddominantchondrodysplasiapunctatatype2;Conradi-Hünermann-Happlesyndrome
XLD EBP 300205
X-linkedrecessivesterolΔ8-Δ7isomerasedeficiency
MaleEBPdisorderwithneurologicdefects(MENDsyndrome)
XLR EBP 300205
SterolΔ5-desaturasedeficiency Lathosterolosis AR SC5D 60228624-dehydrocholesterolreductasedeficiency
Desmosterolosis AR DHCR24 606418
7-dehydrocholesterolreductasedeficiency
Smith-Lemli-Opitzsyndrome;RSHsyndrome AR DHCR7 602858
96.Disordersofsteroidmetabolism21-hydroxylasedeficiency AR CYP21A2 61381511-β-hydroxylasedeficiency AR CYP11B1 61061311-β-hydroxylasesuperactivity Glucocorticoidremediablealdosteronism AD CYP11B1 6106133-β-hydroxysteroiddehydrogenasedeficiency
AR HSD3B2 613890
17-hydroxylase/17,20-lyasedeficiency AR CYP17A1 609300
Steroidogenicacuteregulatoryproteindeficiency
Lipoidadrenalhyperplasia AR STAR 600617
CytochromeP450oxidoreductasedeficiency
AR POR 124015
Steroid18-hydroxylasedeficiency Aldosteronesynthasedeficiency;corticosteronemethyloxidasetype1deficiency
AR CYP11B2 124080
Steroid18-oxidasedeficiency Corticosteronemethyloxidasetype2deficiency AR CYP11B2 124080Hexose-6-phosphatedehydrogenasedeficiency
Cortisonereductasedeficiencytype1 AR H6PD 138090
11-β-hydroxysteroiddehydrogenasedeficiency
Cortisonereductasedeficiencytype2 AD HSD11B1 600713
Glucocorticoidreceptordeficiency Glucocorticoidresistance AD NR3C1 138040ACTHreceptordeficiency Melanocortin-2receptordeficiency;hereditary
glucocorticoiddeficiencytype1AR MC2R 607397
Melanocortin-2receptoraccessoryproteindeficiency
Hereditaryglucocorticoiddeficiencytype2 AR MRAP 609196
Aromatasedeficiency AR CYP19A1 107910Aromatasesuperactivity AD CYP19A1 107910Estrogenreceptordeficiency Estrogenresistance AR ESR1 133430Side-chaincleavageenzymedeficiency Desmolasedeficiency AR CYP11A1 11848517-β-hydroxysteroiddehydrogenasedeficiency
17-ketosteroidreductasedeficiency;malepseudohermaphroditismwithgynecomastia
AR HSD17B3 605573
3-α-hydroxysteroiddehydrogenasetype3deficiency
AR AKR1C2 600450
11-β-hydroxysteroiddehydrogenasetype2deficiency
Apparentmineralocorticoidexcess AR HSD11B2 614232
Steroid5-α-reductase2deficiency AR SRD5A2 607306Androgenreceptordeficiency Androgeninsensitivitysyndrome XLR AR 313700X-linkedspinalandbulbarmuscularatrophy
Kennedydisease XLR AR 313700
Steroidsulfatasedeficiency X-linkedichthyosis XLR STS 300747Seealso:Cytochromeb5deficiencyingroup98.97.Disordersofbileacidsynthesis3β-Hydroxy-Δ5-C27-steroidoxidoreductasedeficiency
Congenitalbileacidsynthesisdefecttype1 AR HSD3B7 607764
Δ4-3-oxosteroid5β-reductasedeficiency Congenitalbileacidsynthesisdefecttype2 AR AKR1D1 604741Oxysterol7α-hydroxylasedeficiency Congenitalbileacidsynthesisdefecttype3;
autosomalrecessivespasticparaplegiatype5AAR CYP7B1 603711
Sterol27-hydroxylasedeficiency Cerebrotendinousxanthomatosis AR CYP27A1 606530α-methylacyl-CoAracemasedeficiency Congenitalbileacidsynthesisdefecttype4 AR AMACR 604489Peroxisomalbranched-chainacyl-CoAoxidasedeficiency
Congenitalbileacidsynthesisdefecttype6 AR ACOX2 601641
Bileacid-CoA:aminoacidN-acyltransferasedeficiency
AR BAAT 602938
F.DISORDERSOFTETRAPYRROLES98.Disordersofhememetabolismδ-aminolevulinicacidsynthasedeficiency X-linkedrecessivesideroblasticanemiatype1 XLR ALAS2 301300δ-aminolevulinicacidsynthasesuperactivity
X-linkedprotoporphyria XLD ALAS2 301300
δ-aminolevulinicaciddehydratasedeficiency
AR ALAD 125270
Porphobilinogendeaminasedeficiency Acuteintermittentporphyria AD,AR HMBS 609806UroporphyrinogenIIIsynthasedeficiency Congenitalerythropoieticporphyria;Guntherdisease AR UROS 606938Uroporphyrinogendecarboxylasedeficiency
Porphyriacutaneatardatype2(dominant);hepatoerythropoieticporphyria(recessive)
AD,AR UROD 613521
Coproporphyrinogenoxidasedeficiency Hereditarycoproporphyria AD CPOX 612732Harderoporphyria AR CPOX 612732Protoporphyrinogenoxidasedeficiency Variegateporphyria AD,AR PPOX 600923Ferrochelatasedeficiency Erythropoieticprotoporhyria AR FECH 612386GATA1deficiency XLR GATA1 305371Mitochondrialporphyrintransporterdeficiency
Familialpseudohyperkalemiatype2;dyschromatosisuniversalishereditariatype3
AD ABCB6 605452
NADH-cytochromeb5reductasedeficiency
NADHdiaphorasedeficiency AR CYB5R3 613213
Cytochromeb5deficiency AR CYB5A 613218Hemeoxygenase1deficiency AR HMOX1 141250Biliverdinreductaseαdeficiency Hyperbiliverdinemia AD,AR BLVRA 10975099.DisordersofbilirubinmetabolismandbiliarytransportUDP-glucuronosyltransferaseA1deficiency
Crigler-Najjarsyndrome(severe);Gilbertsyndrome(milder)
AR UGT1A1 191740
Canalicularbilirubinglucuronidetransporterdeficiency
Dubin-Johnsonsyndrome AR ABCC2 601107
Rotorsyndrome Digenic SLCO1B1+SLCO1B3
604843+605495
Phosphatidylserinetranslocatordeficiency
Progressivefamilialintrahepaticcholestasistype1(severe);benignrecurrentintrahepaticcholestasistype1(milder)
AR ATP8B1 602397
Bilesaltexportpumpdeficiency Progressivefamilialintrahepaticcholestasistype2(severe);benignrecurrentintrahepaticcholestasistype2(milder)
AR ABCB11 603201
Phosphatidylcholinetranslocatordeficiency
Progressivefamilialintrahepaticcholestasistype3(severe);lowphospholipid-associatedcholelithiasis(milder)
AD,AR ABCB4 171060
Bileacidreceptordeficiency Progressivefamilialintrahepaticcholestasistype5 AR NR1H4 603826Apicalbilesalttransporterdeficiency Primarybileacidmalabsorption AR SLC10A2 601295
Seealso:Disordersofcobalaminmetabolism(group26).G.STORAGEDISORDERS
100.DisordersofautophagyEPG5deficiency Vicisyndrome AR EPG5 615068WDR45deficiency Neurodegenerationwithbrainironaccumulation
type5;staticencephalopathyofchildhoodwithneurodegenerationinadulthood(SENDA);β-propellerprotein-associatedneurodegeneration(BPAN)
XLD WDR45 300526
SNX14deficiency Autosomalrecessivespinocerebellarataxiatype20 AR SNX14 616105Spatacsindeficiency Autosomalrecessivespasticparaplegiatype11;
axonalCharcot-Marie-Toothdiseasetype2X;juvenileamyotrophiclateralsclerosistype5
AR SPG11 610844
Spastizindeficiency Autosomalrecessivespasticparaplegiatype15;Kjellinsyndrome
AR ZFYVE26 612012
Adaptor-relatedproteincomplex5ζ-1subunitdeficiency
Autosomalrecessivespasticparaplegiatype48 AR AP5Z1 613653
TECPR2deficiency Autosomalrecessivespasticparaplegiatype49 AR TECPR2 615000TBK1deficiency Frontotemporaldementiaand/oramyotrophic
lateralsclerosistype4AD TBK1 604834
RAB7deficiency Charcot-Marie-Toothdiseasetype2B AD RAB7A 602298101.NeuronalceroidlipofuscinosisTripeptidyl-peptidase1deficiency Neuronalceroidlipofuscinosistype2,Jansky-
Bielchowskydisease(severe),autosomalrecessivespinocerebellarataxiatype7(milder)
AR TPP1 607998
Neuronalceroidlipofuscinosistype3 Vogt-Spielmeyerdisease AR CLN3 607042Neuronalceroidlipofuscinosistype4(Parrytype)
AutosomaldominantKufsdisease AD DNAJC5 611203
Neuronalceroidlipofuscinosistype5 AR CLN5 608102Neuronalceroidlipofuscinosistype6 AutosomalrecessiveKufsdiseasetypeA AR CLN6 606725Neuronalceroidlipofuscinosistype7 Maculardystrophywithcentralconeinvolvement
(milder)AR MFSD8 611124
Neuronalceroidlipofuscinosistype8 AR CLN8 607837CathepsinDdeficiency Neuronalceroidlipofuscinosistype10 AR CTSD 116840Progranulindeficiency FrontotemporallobardegenerationwithTDP-43
inclusions(dominant);neuronalceroidlipofuscinosistype11(recessive)
AD,AR GRN 138945
ATP13A2deficiency Neuronalceroidlipofuscinosistype12;Kufor-Rakebsyndrome;Parkinsondiseasetype9;autosomalrecessivespasticparaplegiatype78
AR ATP13A2 610513
CathepsinFdeficiency AutosomalrecessiveKufsdiseasetypeB AR CTSF 603539Neuronalceroidlipofuscinosistype14 Progressivemyoclonicepilepsytype3 AR KCTD7 611725Seealso:Palmitoyl-proteinthioesterase1deficiencyingroup92.102.Sphingolipidoses Glucocerebrosidasedeficiency Gaucherdisease AR GBA 606463AtypicalGaucherdiseaseduetosaposinCdeficiency
AR PSAP 176801
Acidsphingomyelinasedeficiency Niemann-PicktypeA(severe);Niemann-PicktypeB(milder)
AR SMPD1 607608
β-galactosidasedeficiency,GM1gangliosidosisphenotype
AR GLB1 611458
β-hexosaminidaseα-subunitdeficiency GM2gangliosidosis,Bvariant(Tay-Sachsdisease) AR HEXA 606869β-hexosaminidaseβ-subunitdeficiency GM2gangliosidosis,Ovariant(Sandhoffdisease) AR HEXB 606873GM2activatorproteindeficiency GM2gangliosidosis,ABvariant AR GM2A 613109β-galactosylceramidasedeficiency Globoidcellleukodystrophy;Krabbedisease AR GALC 245200
AtypicalKrabbediseaseduetosaposinAdeficiency
AR PSAP 176801
ArylsulfataseAdeficiency Metachromaticleukodystrophy AR ARSA 607574MetachromaticleukodystrophyduetosaposinBdeficiency
AR PSAP 176801
Formyl-glycinegeneratingenzymedeficiency
Multiplesulfatasedeficiency AR SUMF1 607939
α-GalactosidaseAdeficiency Fabrydisease XL GLA 300644Acidceramidasedeficiency,inflammatoryphenotype
Farberdisease AR ASAH1 613468
Acidceramidasedeficiency,primaryneurologicphenotype
Spinalmuscularatrophywithprogressivemyoclonicepilepsy
AR ASAH1 613468
Combinedsaposindeficiency Prosaposindeficiency AR PSAP 176801103.Oligosaccharidosesα-neuraminidasedeficiency Sialidosis AR NEU1 608272CathepsinAdeficiency Galactosialidosis AR CTSA 613111α-mannosidasedeficiency α-mannosidosis AR MAN2B1 609458β-mannosidasedeficiency β-mannosidosis AR MANBA 609489α-N-acetylgalactosaminidasedeficiency Schindlerdisease;Kanzakidisease(milder) AR NAGA 104170α-fucosidasedeficiency α-fucosidosis AR FUCA1 612280Aspartylglucosaminidasedeficiency Aspartylglucosaminuria AR AGA 613228104.MucolipidosesUDP-N-acetylglucosamine-1-phosphotransferaseα/βsubunitdeficiency
Mucolipidosistype2,I-celldisease(severe);mucolipidosistype3α/β,pseudo-Hurlerpolydystrophy(milder)
AR GNPTAB 607840
UDP-N-acetylglucosamine-1-phosphotransferaseγsubunitdeficiency
Mucolipidosistype3γ AR GNPTG 607838
Mucolipin1deficiency Mucolipidosistype4 AR MCOLN1 605248105.Mucopolysaccharidosesα-iduronidasedeficiency Mucopolysaccharidosistype1H,Hurlersyndrome
(severe);mucopolysaccharidosistype1S,Scheiesyndrome(milder)
AR IDUA 252800
Iduronatesulfatasedeficiency Mucopolysaccharidosistype2;Huntersyndrome XLR IDS 300823HeparanN-sulfatasedeficiency Mucopolysaccharidosistype3A;Sanfilipposyndrome
typeAAR SGSH 605270
N-acetylglucosaminidasedeficiency Mucopolysaccharidosistype3B;SanfilipposyndrometypeB
AR NAGLU 609701
Heparan-α-glucosaminideN-acetyltransferasedeficiency
Mucopolysaccharidosistype3C,SanfilipposyndrometypeC(severe),retinitispigmentosatype73(milder)
AR HGSNAT 610453
N-acetylglucosamine6-sulfatasedeficiency
Mucopolysaccharidosistype3D;SanfilipposyndrometypeD
AR GNS 607664
N-acetylgalactosamine6-sulfatasedeficiency
Mucopolysaccharidosistype4A;MorquiosyndrometypeA
AR GALNS 612222
β-galactosidasedeficiency,Morquiosyndromephenotype
Mucopolysaccharidosistype4B AR GLB1 611458
N-acetylgalactosamine4-sulfatasedeficiency
Mucopolysaccharidosistype6;Maroteaux-Lamysyndrome;arylsulfataseBdeficiency
AR ARSB 611542
β-glucuronidasedeficiency Mucopolysaccharidosistype7;Slysyndrome AR GUSB 611499Hyaluronidasedeficiency Mucopolysaccharidosistype9;Natowiczsyndrome AR HYAL1 607071Mucopolysaccharidosis-plussyndrome AR VPS33A 610034106.DisordersoflysosomalcholesterolmetabolismNiemann-PickdiseasetypeC1 AR NPC1 607623Niemann-PickdiseasetypeC2 AR NPC2 601015Lysosomalacidlipasedeficiency Wolmandisease(severe);cholesterylesterstorage
disease(milder)AR LIPA 613497
107.DisordersoflysosomaltransportorsortingCystinosindeficiency Cystinosis AR CTNS 606272Sialindeficiency Infantilesialicacidstoragedisease(severe);Salla
disease(milder)AR SLC17A5 604322
Glucocerebrosidasereceptordeficiency Progressivemyoclonicepilepsytype4;actionmyoclonus-renalfailuresyndrome
AR SCARB2 602257
Seealso:Methylmalonicaciduriaandhomocystinuria,cblFandcblJtypesingroup26,andmucolipidosistype4ingroup104.108.DisordersoflysosomalproteindegradationCathepsinKdeficiency Pycnodysostosis AR CTSK 601105CathepsinCdeficiency Papillon-Lefevresyndrome;Haim-Munksyndrome AR CTSC 602365Seealso:CathepsinDandFdeficienciesingroup101,andcathepsinAdeficiencyingroup103.
H.DISORDERSOFPEROXISOMESANDOXALATE109.DisordersofplasmalogensynthesisPTS2receptordeficiency Rhizomelicchondrodysplasiapunctatatype1
(severe);classicRefsumdiseasetype2(milder)AR PEX7 601757
Glycerone3-phosphateacyltransferasedeficiency
Rhizomelicchondrodysplasiapunctatatype2 AR GNPAT 602744
Alkylglycerone3-phosphatesynthasedeficiency
Rhizomelicchondrodysplasiapunctatatype3 AR AGPS 603051
FattyAcyl-CoAreductase1(FAR1)deficiency
AR FAR1 616107
Peroxin5longisoformdeficiency Rhizomelicchondrodysplasiapunctatatype5 AR PEX5 600414110.Disordersofperoxisomalβ-oxidationX-linkedadrenoleukodystrophy XLR ABCD1 300371Peroxisomalstraight-chainacyl-CoAoxidasedeficiency
Pseudo-neonataladrenoleukodystrophy AR ACOX1 609751
D-bifunctionalproteindeficiency Pseudo-Zellwegersyndrome(severe);Perraultsyndrometype1(milder)
AR HSD17B4 601860
L-bifunctionalproteindeficiency Fanconirenotubularsyndrometype3 AR EHHADH 607037Sterolcarrierprotein-2deficiency Leukoencephalopathywithdystoniaandmotor
neuropathyAR SCP2 184755
Seealso:α-methylacyl-CoAracemasedeficiencyingroup97.111.Disorderofperoxisomalα-oxidationPhytanoyl-CoAhydroxylasedeficiency ClassicRefsumdisease AR PHYH 602026Seealso:PTS2receptordeficiencyingroup109.112.DisordersofperoxisomalbiogenesisPeroxin1deficiency Peroxisomebiogenesisdisorder1A(Zellweger
syndrome);peroxisomebiogenesisdisorder1B(neonataladrenoleukodystrophy/infantileRefsumdisease);Heimlersyndrometype1
AR PEX1 602136
Peroxin2deficiency Peroxisomebiogenesisdisorder5A(severe);peroxisomebiogenesisdisorder5B(milder)
AR PEX2 170993
Peroxin3deficiency Peroxisomebiogenesisdisorder10A(severe);peroxisomebiogenesisdisorder10B(milder)
AR PEX3 603164
Peroxin5deficiency Peroxisomebiogenesisdisorder2A(severe);peroxisomebiogenesisdisorder2B(milder)
AR PEX5 600414
Peroxin6deficiency Peroxisomebiogenesisdisorder5A(severe);peroxisomebiogenesisdisorder5B(intermediate);Heimlersyndrometype2(milder)
AD,AR PEX6 601498
Peroxin10deficiency Peroxisomebiogenesisdisorder6A(severe);peroxisomebiogenesisdisorder6B(milder)
AR PEX10 602859
Peroxin11Bdeficiency Peroxisomebiogenesisdisorder14B AR PEX11B 603867Peroxin12deficiency Peroxisomebiogenesisdisorder3A(severe);
peroxisomebiogenesisdisorder3B(milder)AR PEX12 601758
Peroxin13deficiency Peroxisomebiogenesisdisorder11A(severe);peroxisomebiogenesisdisorder11B(milder)
AR PEX13 601789
Peroxin14deficiency Peroxisomebiogenesisdisorder13A AR PEX14 601791Peroxin16deficiency Peroxisomebiogenesisdisorder8A(severe);
peroxisomebiogenesisdisorder8B(milder)AR PEX16 603360
Peroxin19deficiency Peroxisomebiogenesisdisorder12A AR PEX19 600279Peroxin26deficiency Peroxisomebiogenesisdisorder7A(severe);
peroxisomebiogenesisdisorder7B(milder)AR PEX26 608666
113.PeroxisomaldisordersnotinvolvinglipidmetabolismCatalasedeficiency Acatalasemia AR CAT 115500Alanine-glyoxylateaminotransferasedeficiency
Primaryhyperoxaluriatype1 AR AGXT 604285
Hydroxyacidoxidase1deficiency Glycolateoxidasedeficiency;isolatedglycolicaciduria
AR HAO1 605023
114.DisordersofoxalatemetabolismGlyoxylatereductase/hydroxypyruvatereductasedeficiency
Primaryhyperoxaluriatype2 AR GRHPR 604296
4-hydroxy-2-oxoglutaratealdolase1deficiency
Primaryhyperoxaluriatype3 AR HOGA1 613597
Oxalatetransporterdeficiency AR SLC26A1 610130Seealso:Alanine-glyoxylateaminotransferaseandhydroxyacidoxidase1deficienciesingroup113.
I.CONGENITALDISORDERSOFGLYCOSYLATION115.DisordersofN-linkedglycosylationPhosphomannomutase2deficiency PMM2-CDG AR PMM2 601785Phosphomannoseisomerasedeficiency MPI-CDG AR MPI 154550N-acetylglucosamine-1-phosphatetransferasedeficiency
DPAGT1-CDG AR DPAGT1 191350
X-linkedrecessiveUDP-N-acetylglucosaminetransferasecatalyticsubunitdeficiency
ALG13-CDG XLR ALG13 300776
X-linkeddominantUDP-N-acetylglucosaminetransferasecatalyticsubunitdeficiency
Earlyinfantileepilepticencephalopathytype36 XLD ALG13 300776
UDP-N-acetylglucosaminetransferaseanchoringsubunitdeficiency
ALG14-CDG AR ALG14 612866
ALG1β-1,4-mannosyltransferasedeficiency
ALG1-CDG AR ALG1 605907
ALG2α-1,3/1,6-mannosyltransferasedeficiency
ALG2-CDG AR ALG2 607905
ALG11α-1,2-mannosyltransferasedeficiency
ALG11-CDG AR ALG11 613666
Lipid-linkedoligosaccharideflippasedeficiency
RFT1-CDG AR RFT1 611908
ALG3α-1,3-mannosyltransferasedeficiency
ALG3-CDG AR ALG3 608750
ALG9α-1,2-mannosyltransferasedeficiency
ALG9-CDG AR ALG9 606941
ALG12α-1,6-mannosyltransferasedeficiency
ALG12-CDG AR ALG12 607144
ALG6α-1,3-glucosyltransferasedeficiency ALG6-CDG AR ALG6 604566ALG8α-1,3-glucosyltransferasedeficiency ALG8-CDG(recessive);polycysticliverdiseasetype3
(dominant)AD,AR ALG8 608103
OligosaccharyltransferaseTUSC3subunitdeficiency
TUSC3-CDG AR TUSC3 601385
OligosaccharyltransferaseSTT3Asubunitdeficiency
STT3A-CDG AR STT3A 601134
OligosaccharyltransferaseMAGT1subunitdeficiency
MAGT1-CDG XLR MAGT1 300715
Translocon-associatedproteinδsubunitdeficiency
SSR4-CDG XLR SSR4 300090
Mannosyl-oligosaccharideα-1,2-glucosidasedeficiency
MOGS-CDG AR MOGS 601336
α-1,3-glucosidaseIIsubunitαdeficiency Polycystickidneydiseasetype3 AD GANAB 104160α-1,3-glucosidaseIIsubunitβdeficiency Polycysticliverdiseasetype1 AD PRKCSH 177060α-1,2-mannosidaseIdeficiency MAN1B1-CDG AR MAN1B1 604346
β-1,2-N-acetylglucosaminyltransferaseIIdeficiency
MGAT2-CDG AR MGAT2 602616
α-1,6-fucosyltransferasedeficiency FUT8-CDG AR FUT8 602589116.DisordersofO-mannosylationProteinO-mannosyltransferase1deficiency
MDDGA1(severe);MDDGB1(intermediate);MDDGC1(milder)
AR POMT1 607423
ProteinO-mannosyltransferase2deficiency
MDDGA2;MDDGB2;MDDGC2 AR POMT2 607439
ProteinO-mannoseβ-1,2-N-acetylglucosaminyltransferasedeficiency
MDDGA3;MDDGB3;MDDGC3;retinitispigmentosatype76
AR POMGNT1 606822
ProteinO-mannoseβ-1,4-N-acetylglucosaminyltransferasedeficiency
MDDGA8 AR POMGNT2 614828
β-1,3-galactosaminyltransferase2deficiency
MDDGA11 AR B3GALNT2 610194
ProteinO-mannosekinasedeficiency MDDGA12;MDDGC12 AR POMK 615247Methylerythritol4-phosphatecytidylyltransferasedeficiency
MDDGA7;MDDGC7 AR ISPD 614631
Fukutindeficiency MDDGA4;MDDGB4;MDDGC4 AR FKTN 607440Fukutin-relatedproteindeficiency MDDGA5;MDDGB5;MDDGC5 AR FKRP 606596Ribitolβ-1,4-xylosyltransferasedeficiency MDDGA10 AR RXYLT1 605862β-1,4-glucuronyltransferase1deficiency MDDGA13 AR B4GAT1 605517β-1,3-glucuronyltransferase/α-1,3-xylosytransferasedeficiency
MDDGA6;MDDGB6 AR LARGE1 603590
117.DisordersofO-xylosylationandglycosaminoglycansynthesisXylosyltransferase1deficiency Desbuquoisdysplasiatype2 AR XYLT1 608124Xylosyltransferase2deficiency Spondyloocularsyndrome AR XYLT2 608125β-1,4-galactosyltransferase7deficiency ProgeroidEhlers-Danlossyndrometype1;Larsenof
ReunionIslandsyndromeAR B4GALT7 604327
β-1,3-galactosyltransferase6deficiency Spondyloepimetaphysealdysplasiawithjointlaxitytype1;progeroidEhlers-Danlossyndrometype2
AR B3GALT6 615291
β-1,3-glucuronyltransferase3deficiency Larsen-likesyndrome AR B3GAT3 606374Exostosinglycosyltransferase1deficiency Multiplehereditaryexostosestype1 AD EXT1 608177Exostosinglycosyltransferase2deficiency Multiplehereditaryexostosestype2 AD EXT2 608210Exostosin-likeglycosyltransferase3deficiency
Immunoskeletaldysplasiawithneurodevelopmentalabnormalities
AR EXTL3 605744
Chondroitinsulfatesynthase1deficiency Temtamypreaxialbrachydactylysyndrome AR CHSY1 608183Chondroitin6-sulfotransferasedeficiency AutosomalrecessiveLarsensyndrome;
spondyloepiphysealdysplasiaOmanitype;humerospinaldysostosis
AR CHST3 603799
Dermatan4-sulfotransferase1deficiency Ehlers-Danlossyndromemusculocontracturaltype1 AR CHST14 608429Dermatansulfateepimerasedeficiency Ehlers-Danlossyndromemusculocontracturaltype2 AR DSE 605942CornealN-acetylglucosamine6-O-sulfotransferasedeficiency
Macularcornealdystrophy AR CHST6 605294
UDP-galactosenucleotidasedeficiency Desbuquoisdysplasiatype1;multipleepiphysealdysplasiatype7
AR CANT1 613165
Sulfatetransporterdeficiency Achondrogenesistype1;atelosteogenesistype2;diastrophicdysplasia;multipleepiphysealdysplasiatype4
AR SLC26A2 606718
Phosphoadenosine5'-phosphosulfatesynthetase2deficiency
Spondyloepimetaphysealdysplasia,Pakistanitype AR PAPSS2 603005
Golgi-residentphosphoadenosinephosphatephosphatasedeficiency
Chondrodysplasiawithjointdislocations,gPAPPtype AR IMPAD1 614010
Seealso:UDP-glucuronicacid/UDP-N-acetylgalactosaminedualtransporterdeficiencyingroup127.118.DisordersofO-GalNAcylationPolypeptideN-acetylgalactosaminyltransferase3deficiency
Hyperphosphatemicfamilialtumoralcalcinosistype1;hyperostosis-hyperphosphatemiasyndrome
AR GALNT3 601756
Core1β-1,3-galactosyltransferasechaperonedeficiency
Tnpolyagglutinationsyndrome Somatic C1GALT1C1 300611
119.DisordersofO-GlcNAcylationO-linkedN-acetylglucosaminetransferasedeficiency
X-linkedmentalretardationtype106 XLR OGT 300255
EGFdomain-specificO-linkedN-acetylglucosaminetransferasedeficiency
Adams-Oliversyndrometype4 AR EOGT 614789
120.DisorderofO-glucosylationProteinO-glucosyltransferasedeficiency
Dowling-Degosdiseasetype4 AD POGLUT1 615618
121.DisordersofO-fucosylationProteinO-fucosyltransferasedeficiency Dowling-Degosdiseasetype2 AD POFUT1 607491
Fucose-specificβ-1,3-N-acetylglucosaminyltransferasedeficiency
Spondylocostaldysostosistype3 AR LFNG 602576
Fucose-specificβ-1,3-glucosyltransferasedeficiency
Peters-Plussyndrome AR B3GLCT 610308
122.DisordersofglycosylphosphatidylinositolbiosynthesisPIGA-CDG Multiplecongenitalanomalies-hypotonia-seizures
syndrometype2;GPIbiosynthesisdefecttype4;earlyinfantileepilepticencephalopathytype20
XLR PIGA 311770
PIGC-CDG GPIbiosynthesisdefecttype16;autosomalrecessivementalretardationtype62
AR PIGC 601730
PIGQ-CDG AR PIGQ 605754PIGL-CDG CHIMEsyndrome;GPIbiosynthesisdefecttype5 AR PIGL 605947PIGW-CDG Hyperphosphatasiawithmentalretardationtype5;
GPIbiosynthesisdefecttype11AR PIGW 610275
PIGM-CDG GPIbiosynthesisdefecttype1 AR PIGM 610273PIGV-CDG Hyperphosphatasiawithmentalretardationtype1;
GPIbiosynthesisdefecttype2AR PIGV 610274
PIGN-CDG Multiplecongenitalanomalies-hypotonia-seizuressyndrometype1;GPIbiosynthesisdefecttype3
AR PIGN 606097
PIGO-CDG Hyperphosphatasiawithmentalretardationtype2;GPIbiosynthesisdefecttype6
AR PIGO 614730
PIGG-CDG Autosomalrecessivementalretardationtype53;GPIbiosynthesisdefecttype13
AR PIGG 616918
PIGT-CDG Multiplecongenitalanomalies-hypotonia-seizuressyndrometype3,GPIbiosynthesisdefecttype7
AR PIGT 610272
GPAA1-CDG GPIbiosynthesisdefecttype15 AR GPAA1 603048PGAP1-CDG Autosomalrecessivementalretardationtype42;GPI
biosynthesisdefecttype9AR PGAP1 611655
PGAP3-CDG Hyperphosphatasiawithmentalretardationtype4;GPIbiosynthesisdefecttype10
AR PGAP3 611801
PGAP2-CDG Hyperphosphatasiawithmentalretardationtype3;GPIbiosynthesisdefecttype8
AR PGAP2 615187
123.DisordersofglycolipidglycosylationGM3synthasedeficiency Amishinfantileepilepsysyndrome;saltandpepper
developmentalregressionsyndromeAR ST3GAL5 604402
GM2/GD2synthasedeficiency Autosomalrecessivespasticparaplegiatype26 AR B4GALNT1 601873GD1a/GT1bsynthasedeficiency ST3GAL3-CDG AR ST3GAL3 606494GB3synthasedeficiency NORpolyagglutinationsyndrome AD A4GALT 607922124.DisordersofdolicholmetabolismCis-isoprenyltransferasedeficiency AD,AR DHDDS 608172Nogo-Breceptordeficiency AD,AR NUS1 610463Polyprenolreductasedeficiency SRD5A3-CDG AR SRD5A3 611715Dolicholkinasedeficiency DOLK-CDG AR DOLK 610746Dolichol-phosphatemannosesynthasesubunit1deficiency
DPM1-CDG AR DPM1 603503
Dolichol-phosphatemannosesynthasesubunit2deficiency
DPM2-CDG AR DPM2 603564
Dolichol-phosphatemannosesynthasesubunit3deficiency
DPM3-CDG AR DPM3 605951
MPDU1-CDG AR MPDU1 604041125.DisordersofmonosaccharidesynthesisandinterconversionUDP-N-acetylglucosamine-2-epimerase/N-acetylmannosaminekinasedeficiency
GNEmyopathy;Nonakamyopathy AR GNE 603824
UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosaminekinasesuperactivity
Sialuria AD GNE 603824
N-acetylneuraminicacid-9-phosphatesynthasedeficiency
NANS-CDG;spondyloepimetaphysealdysplasiaCamera-Genevievetype
AR NANS 605202
Glutamine:fructose-6-phosphatetransaminasedeficiency
Congenitalmyasthenicsyndrometype12 AR GFPT1 138292
Phosphoglucomutase1deficiency PGM1-CDG;glycogenstoragediseasetype14 AR PGM1 171900N-Acetylglucosamine-phosphatemutasedeficiency
PGM3-CDG;immunodeficiencytype23 AR PGM3 172100
Glucose-6-phosphatasecatalyticsubunit3deficiency
Severecongenitalneutropeniatype4;Dursunsyndrome
AR G6PC3 611045
Seealso:Phosphomannomutase2andphosphomannoseisomerasedeficienciesingroup115.126.Disordersofnucleotide-sugarsynthesisGDP-mannosepyrophosphorylaseαsubunitdeficiency
Alacrima,achalasia,andmentalretardationsyndrome
AR GMPPA 615495
GDP-mannosepyrophosphorylaseβsubunitdeficiency
MDDGA14;MDDGB14;MDDGC14 AR GMPPB 615320
Seealso:CADtrifunctionalproteindeficiencyingroup1.127.DisordersofGolgitransportCMP-sialicacidtransporterdeficiency SLC35A1-CDG AR SLC35A1 605634UDP-galactosetransporterdeficiency SLC35A2-CDG;earlyinfantileepileptic
encephalopathy22XLD SLC35A2 314375
UDP-N-acetylglucosaminetransporterdeficiency
SLC35A3-CDG AR SLC35A3 605632
GDP-fucosetransporterdeficiency SLC35C1-CDG AR SLC35C1 605881UDP-glucuronicacid/UDP-N-acetylgalactosaminedualtransporterdeficiency
Schneckenbeckendysplasia;SLC35D1-CDG AR SLC35D1 610804
Seealso:SLC39A8deficiencyingroup42.128.GlycosylationdisordersofvesiculartraffickingConservedoligomericGolgicomplexsubunit1deficiency
COG1-CDG AR COG1 606973
ConservedoligomericGolgicomplexsubunit4deficiency
COG4-CDG AR COG4 606976
ConservedoligomericGolgicomplexsubunit5deficiency
COG5-CDG AR COG5 606821
ConservedoligomericGolgicomplexsubunit6deficiency
COG6-CDG AR COG6 606977
ConservedoligomericGolgicomplexsubunit7deficiency
COG7-CDG AR COG7 606978
ConservedoligomericGolgicomplexsubunit8deficiency
COG8-CDG AR COG8 606979
Jagunal1deficiency Severecongenitalneutropeniatype6 AR JAGN1 616012Congenitaldyserythropoieticanemiatype2
SEC23B-CDG AR SEC23B 610512
Achondrogenesistype1A AR TRIP11 604505TRAPPC11-CDG Limb-girdlemusculardystrophytype2S AR TRAPPC11 614138Cohensyndrome
AR VPS13B 607817
Abbreviations:AD,autosomaldominant;adPEO,autosomaldominantprogressiveexternalophthalmoplegia;AR,autosomalrecessive;arPEO,autosomalrecessiveprogressiveexternalophthalmoplegia;GPI,glycosylphosphatidylinositol;Mit,mitochondrial;MDDGA,musculardystrophy-dystroglycanopathywithbrainandeyeanomalies(typeA,includesWalker-Warburgsyndromeandmuscle-eye-braindisease);MDDGB,musculardystrophy-dystroglycanopathywithmentalretardation(typeB);MDDGC,limb-girdlemusculardystrophy-dystroglycanopathy(typeC);XL,X-linked;XLD,X-linkeddominant;XLR,X-linkedrecessive.
129.DisordersofGolgihomeostasisATP6V0A2-CDG Autosomalrecessivecutislaxatype2A(wrinklyskin
syndrome)AR ATP6V0A2 611716
ATP6V1A-CDG Autosomalrecessivecutislaxatype2D AR ATP6V1A 607027ATP6V1E1-CDG Autosomalrecessivecutislaxatype2C AR ATP6V1E1 108746ATP6AP1-CDG Immunodeficiencytype47 XLR ATP6AP1 300197ATP6AP2-CDG X-linkedmentalretardation,Hederatype XLR ATP6AP2 300556Transmembraneprotein199deficiency TMEM199-CDG AR TMEM199 616815CCDC115-CDG AR CCDC115 613734Transmembraneprotein165deficiency TMEM165-CDG AR TMEM165 614726130.DisorderofdeglycosylationN-glycanase1deficiency NGLY1-CDDG AR NGLY1 610661