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1.DisordersofpyrimidinemetabolismCADtrifunctionalproteindeficiency AR CAD 114010Dihydroorotatedehydrogenasedeficiency Postaxialacrofacialdysostosis;Millersyndrome;
Genée–WiedemannsyndromeAR DHODH 126064
Uridinemonophosphatesynthasedeficiency
Hereditaryoroticaciduria AR UMPS 613891
Cytosolicpyrimidine5’-nucleotidasedeficiency
Uridine5’-monophosphatehydrolase1deficiency AR NT5C3A 606224
dUTPpyrophosphatasedeficiency AR DUT 601266Seealso:Dihydropyrimidinedehydrogenase,dihydropyrimidinase,andβ-ureidopropionasedeficienciesingroup17,andthymidinephosphorylasedeficiencyingroup69.2.DisordersofpurinemetabolismPhosphoribosylpyrophosphatesynthetasesuperactivity
Thiopurinemethyltransferasedeficiency AR TPMT 187680Inosinetriphosphatasedeficiency Earlyinfantileepilepticencephalopathytype35 AR ITPA 147520Uratetransporter1deficiency Hereditaryrenalhypouricemiatype1 AR SLC22A12 607096Uratevoltage-driveneffluxtransporter1deficiency
RibonucleaseH2subunitBdeficiency Aicardi-Goutièressyndrometype2 AR RNASEH2B 610326RibonucleaseH2subunitCdeficiency Aicardi-Goutièressyndrometype3 AR RNASEH2C 610330RibonucleaseH2subunitAdeficiency Aicardi-Goutièressyndrometype4 AR RNASEH2A 606034RibonucleaseT2deficiency Cysticleukoencephalopathywithoutmegalencephaly AR RNASET2 612944SAMHD1deficiency Aicardi-Goutièressyndrometype5;stenosis,
Sarcosinedehydrogenasedeficiency Sarcosinemia AR SARDH 604455Flavinmonooxygenase3deficiency Primarytrimethylaminuria AR FMO3 1361326.Disordersofglutathionemetabolismγ-glutamylcysteinesynthetasedeficiency Glutamate-cysteineligasedeficiency AR GCLC 606857Glutathionesynthetasedeficiency AR GSS 601002γ-glutamyltranspeptidasedeficiency Glutathioninuria;γ-glutamyltransferasedeficiency AR GGT1 6123465-Oxoprolinasedeficiency AR OPLAH 614243Glutathionereductasedeficiency AR GSR 138300Glutathioneperoxidase4deficiency Spondylometaphysealdysplasia,Sedaghatiantype AR GPX4 138322
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 133550Largeneutralaminoacidtransporterlightchaindeficiency
Autosomalrecessivementalretardationtype48 AR SLC6A17 610299
Lysosomalcationicaminoacidtransporterdeficiency
Retinitispigmentosatype68 AR SLC7A14 615720
Seealso:Mitochondrialornithinetransporterandcitrindeficienciesingroup7,GABAtransporterdeficiencyingroup17,glutamateaspartatetransporter,astroglialglutamateaspartatetransporter,andmitochondrialglutamatetransporterdeficienciesingroup20,ASCT1transporterdeficiencyingroup23,glycinetransporter1,glycinetransporter2,andmitochondrialglycinetransporterdeficienciesingroup24,mitochondrialaspartate-glutamatecarrierisoform1deficiencyingroup57,andcystinosindeficiencyingroup107.9.AminoacylasedeficienciesAspartoacylasedeficiency Canavandisease;aminoacylase2deficiency AR ASPA 608034Aminoacylase1deficiency AR ACY1 10462010.DisordersofmonoaminemetabolismTyrosinehydroxylasedeficiency 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
Cytochromeb561deficiency AR CYB561 60001911.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
Tyrosinasedeficiency 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 Classichomocystinuria AR CBS 613381Cystathionineγ-lyasedeficiency Cystathioninuria AR CTH 607657Methanethioloxidasedeficiency Extraoralhalitosis AR SELENBP1 604188Isolatedsulfiteoxidasedeficiency Sulfocysteinuria AR SUOX 606887Mitochondrialsulfurdioxygenasedeficiency
Isovaleryl-CoAdehydrogenasedeficiency Isovalericacidemia AR IVD 607036Isobutyryl-CoAdehydrogenasedeficiency AR ACAD8 6047732-Methylbutyryl-CoAdehydrogenasedeficiency
Combinedmalonicandmethylmalonicaciduria AR ACSF3 614245
Malonyl-CoAdecarboxylasedeficiency Malonicaciduria AR MLYCD 606761Seealso:Largeneutralaminoacidtransporterdeficiencyingroup8,andmitochondrialacetoacetyl-CoAthiolasedeficiencyingroup84.15.Disordersoflysinemetabolism
α-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
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 613349Ornithinedecarboxylasesuperactivity Bachmann-Buppsyndrome AD ODC1 165640Sperminesynthasedeficiency Snyder-Robinsonsyndrome AR SMS 300105Seealso:4-hydroxy-2-oxoglutaratealdolase1deficiencyingroup114.17.Disordersofβ-andγ-aminoacidsDihydropyrimidinedehydrogenasedeficiency
AR DPYD 612779
Dihydropyrimidinasedeficiency Dihydropyrimidinuria AR DPYS 613326
β-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
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
Thorasedeficiency Hyperekplexiatype4 AR ATAD1 614452Metabotropicglutamatereceptor1deficiency
Autosomalrecessivespinocerebellarataxiatype13 AR GRM1 604473
Metabotropicglutamatereceptor1superactivity
Spinocerebellarataxiatype44 AD GRM1 604473
Metabotropicglutamatereceptor6deficiency
Congenitalstationarynightblindnesstype1B AR GRM6 604096
21.DisorderofglutaminemetabolismGlutaminasedeficiency AR GLS 138280Glutaminesynthetasedeficiency AR GLUL 13829022.DisorderofasparaginemetabolismAsparaginesynthetasedeficiency AR ASNS 10837023.Disordersofserinemetabolism3-phosphoglyceratedehydrogenasedeficiency
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
5-formyltetrahydrofolatecycloligasedeficiency AR MTHFS 604197
Dihydrofolatereductasedeficiency AR DHFR 126060Glutamateformiminotransferasedeficiency
Formiminoglutamicaciduria AR FTCD 606806
28.DisordersofbiotinmetabolismBiotinidasedeficiency AR BTD 609019Holocarboxylasesynthetasedeficiency AR HLCS 60901829.DisordersofthiaminemetabolismThiaminetransporter1deficiency Thiamine-responsivemegaloblasticanemia;Rogers
30.DisordersofriboflavinmetabolismRiboflavintransporter1deficiency Transientriboflavindeficiency AD SLC52A1 607883Riboflavintransporter2deficiency Brown-Vialetto-vanLaeresyndrometype1 AR SLC52A3 613350Riboflavintransporter3deficiency Brown-Vialetto-vanLaeresyndrometype2 AR SLC52A2 607882Flavinadeninedinucleotidesynthetasedeficiency
NAD(P)HXepimerasedeficiency ApolipoproteinA-Ibindingproteindeficiency AR NAXE 608862NAD(P)HXdehydratasedeficiency CARKDdeficiency AR NAXD 615910Nicotinamidenucleotidetranshydrogenasedeficiency
Retinoicacidreceptorβdeficiency Syndromicmicrophthalmiatype12 AD,AR RARB 18022036.DisordersofvitaminDmetabolism1-α-hydroxylasedeficiency VitaminD-dependentricketstype1A AR CYP27B1 609506VitaminD25-hydroxylasedeficiency VitaminD-dependentricketstype1B AR CYP2R1 608713VitaminDreceptordeficiency VitaminD-dependentricketstype2A AR VDR 601769VitaminD24-hydroxylasedeficiency Infantilehypercalcemiatype1 AR CYP24A1 12606537.DisorderofvitaminEmetabolismα-tocopheroltransferproteindeficiency AtaxiawithisolatedvitaminEdeficiency AR TTPA 60041538.DisordersofvitaminKmetabolism
Microsomalepoxidehydrolasedeficiency Familialhypercholanemia AR EPHX1 132810Menaquinone-4synthetasedeficiency Schnydercornealdystrophy AD UBIAD1 61163239.DisordersofmolybdenummetabolismCyclicpyranopterinmonophosphatesynthasedeficiency
MolybdenumcofactordeficiencytypeA AR MOCS1 603707
Molybdopterinsynthasedeficiency MolybdenumcofactordeficiencytypeB AR MOCS2 603708Gephyrindeficiency MolybdenumcofactordeficiencytypeC AR GPHN 603930Molybdenumcofactorsulfurasedeficiency
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 134790Ferritinlightchainsuperactivity Neuroferritinopathy;neurodegenerationwithbrain
ironaccumulation3AR FTL 134790
Ferritinlightchaindysregulation Hyperferritinemia-cataractsyndrome AR FTL 134790Hereditaryceruloplasmindeficiency Aceruloplasminemia AR CP 117700Matriptrase2deficiency Iron-refractoryirondeficiencyanemia AR TMPRSS6 609862Hereditarytransferrindeficiency Atransferrinemia AR TF 190000
Transferrinreceptordeficiency Immunodeficiencytype46 AR TFRC 190010Divalentmetaltransporter1deficiency Hypochromicmicrocyticanemiawithironoverload
type1AR SLC11A2 600523
42.DisordersofmanganesemetabolismHypermanganesemiawithdystoniatype1 AR SLC30A10 611146SLC39A14deficiency Hyperostosiscranialisinterna(dominant);
SLC39A8deficiency AR SLC39A8 608732Seealso:ATP13A2deficiencyingroup101.43.DisordersofzincmetabolismAcrodermatitisenteropathica AR SLC39A4 607059Transientneonatalzincdeficiency AD SLC30A2 609617SpondylocheirodysplasticEhlers-Danlossyndrome
AR SLC39A13 608735
Birk-Landau-Perezsyndrome AR SLC30A9 60460444.DisordersofseleniummetabolismSelenocysteineinsertionsequence-bindingprotein2deficiency
Glucosetransporter2deficiency Fanconi-Bickelsyndrome AR SLC2A2 138160Intestinalsodium-glucosecotransporter1deficiency
Glucose-galactosemalabsorption AR SLC5A1 182380
Congenitalsucrase-isomaltasedeficiency AR SI 609845Trehalasedeficiency TREH 275360Congenitallactasedeficiency Congenitalalactasia AR LCT 603202Renalsodium-glucosecotransporter2deficiency
Classicgalactosemia;galactosemiatype1 AR GALT 606999
Galactokinasedeficiency Galactosemiatype2 AR GALK1 604313Galactoseepimerasedeficiency Galactosemiatype3 AR GALE 606953Galactosemutarotasedeficiency Galactosemiatype4 AR GALM 13703048.DisordersoffructosemetabolismHepaticfructokinasedeficiency Essentialfructosuria AR KHK 614058AldolaseBdeficiency Hereditaryfructoseintolerance AR ALDOB 612724Seealso:Fructose-1,6-bisphosphatasedeficiencyingroup52,andD-glyceratekinasedeficiencyingroup87.49.Disordersofthepentosephosphatepathwayandpolyolmetabolism
Glucose-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 60834750.DisordersofinsulinsecretionandsignalingATP-sensitivepotassiumchannelregulatorysubunitdeficiency
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 147670Insulinpromoterfactor1deficiency Maturity-onsetdiabetesoftheyoungtype4
Krüppel-likefactor11deficiency Maturity-onsetdiabetesoftheyoungtype7 AD KLF11 603301PAX4deficiency Maturity-onsetdiabetesoftheyoungtype9 AD PAX4 167413BLKdeficiency Maturity-onsetdiabetesoftheyoungtype11 AD BLK 191305APPL1deficiency Maturity-onsetdiabetesoftheyoungtype14 AD APPL1 604299AKT2superactivity Hypoinsulinemichypoglycemiawith
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;
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
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 311800Musclephosphoglyceratemutasedeficiency
Glycogenstoragediseasetype10;DiMaurodisease AR PGAM2 612931
Enolaseβdeficiency Glycogenstoragediseasetype13 AR ENO3 131370Pyruvatekinasedeficiency AR PKLR 609712LactatedehydrogenaseAdeficiency Glycogenstoragediseasetype11 AR LDHA 150000LactatedehydrogenaseBdeficiency AD,AR LDHB 150100
D.MITOCHONDRIALDISORDERSOFENERGYMETABOLISM
54.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
X-linkedCharcot-Marie-Toothtype6 XLD PDK3 300906
Seealso:Dihydrolipoamidedehydrogenasedeficiencyingroup14,glutamatepyruvatetransaminase2deficiencyingroup20,andpyruvatecarboxylasedeficiencyingroup52.55.DisordersoftheKrebscycleMitochondrialaconitasedeficiency Infantilecerebellar-retinaldegeneration AR ACO2 100850MitochondrialNADH-dependentisocitratedehydrogenase2superactivity
FOXRED1deficiency AR FOXRED1 613622NUBPLdeficiency AR NUBPL 613621ACAD9deficiency AR ACAD9 611103Transmembraneprotein126Bdeficiency AR TMEM126B 615533TIMMDC1deficiency MitochondrialcomplexIdeficiency,nucleartype31 AR TIMMDC1 61553460.DisordersofcomplexIIsubunitsSuccinatedehydrogenasesubunitAdeficiency
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 615831UQCC2deficiency MitochondrialcomplexIIIdeficiency,nucleartype7 AR UQCC2 61446164.DisordersofcomplexIVsubunitsCytochromecoxidasesubunit1deficiency
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.DisordersofcomplexVsubunitsMitochondrialATPsynthaseF1subunitadeficiency
AR ATP5F1A 164360
MitochondrialATPsynthaseF1subunitδdeficiency
AR ATP5F1D 603150
MitochondrialATPsynthaseF1subunitedeficiency
AR ATP5F1E 606153
DAPITdeficiency USMG5deficiency AR ATP5MD 615204MitochondrialATPsynthaseF0subunit6deficiency
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
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
GUF1deficiency Earlyinfantileepilepticencephalopathy40 AR GUF1 61706473.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 590050
MitochondrialtRNA(Leu)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 590080MitochondrialtRNA(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
Pitrilysinmetallopeptidase1deficiency AR PITRM1 -Seealso:X-prolylaminopeptidase3deficiencyingroup16.80.OtherdisordersofmitochondrialhomeostasisMitochondrialinorganicpyrophosphatase2deficiency
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
MICOScomplexsubunitMIC13deficiency QIL1deficiency AR C19orf70 616658CHCHD10deficiency AD CHCHD10 615903Seealso:Thorasedeficiencyingroup20.81.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
Lipin1deficiency AR LPIN1 605518Lipin2deficiency Majeedsyndrome AR LPIN2 605519Diacylglycerolacyltransferasedeficiency Congenitaldiarrheatype7 AR DGAT1 604900CGI-58deficiency Chanarin-Dorfmansyndrome;neutrallipidstorage
diseasewithichthyosisAR ABHD5 604780
Adiposetriglyceridelipasedeficiency Neutrallipidstoragediseasewithmyopathy AR PNPLA2 609059Perilipin1deficiency Familialpartiallipodystrophytype4 AD PLIN1 170290Hormone-sensitivelipasedeficiency Familialpartiallipodystrophytype6 AR LIPE 151750Seipindeficiency Congenitalgeneralizedlipodystrophytype2
Cholinekinaseβdeficiency Congenitalmusculardystrophy,megaconialtype AR CHKB 612395Phosphocholinecytidylyltransferase1αdeficiency,retinoskeletalphenotype
DDHD1deficiency Autosomalrecessivespasticparaplegiatype28 AR DDHD1 614603DDHD2deficiency Autosomalrecessivespasticparaplegiatype54 AR DDHD2 615003PNPLA6deficiency Autosomalrecessivespasticparaplegiatype39;
Ceramidesynthase3deficiency Autosomalrecessivecongenitalichthyosistype9 AR CERS3 615276CYP4F22omegahydroxylasedeficiency Autosomalrecessivecongenitalichthyosistype5 AR CYP4F22 611495Acylceramidetransacylasedeficiency Autosomalrecessivecongenitalichthyosistype10 AR PNPLA1 612121
Nonlysosomalglucosylceramidasedeficiency
Autosomalrecessivespasticparaplegiatype46 AR GBA2 609471
Sphingosine-1-phosphatelyasedeficiency AR SGPL1 603729Ceramidetransferproteinsuperactivity Autosomaldominantmentalretardationtype34 AD COL4A3BP 604677Seealso:3-phosphoglyceratedehydrogenase,phosphoserinephosphatase,andphosphoserinephosphatasedeficienciesingroup23;GM3synthase,GM2/GD2synthase,andGB3synthasedeficienciesingroup123.91.DisordersofeicosanoidmetabolismThromboxanesynthasedeficiency Ghosalhematodiaphysealsyndrome AR TBXAS1 27418015-hydroxyprostaglandindehydrogenasedeficiency
Primaryhypertrophicosteoarthropathytype1 AR HPGD 601688
Prostaglandintransporterdeficiency Primaryhypertrophicosteoarthropathytype2 AR SLCO2A1 601460CytosolicphospholipaseA2αdeficiency Cryptogenicmultifocalulceratingstenosingenteritis
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
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 Analphalipoproteinemia AR ABCA1 600046ApolipoproteinA1deficiency Hypoalphalipoproteinemia AD APOA1 107680
Phosphomevalonatekinasedeficiency Porokeratosistype1 AD PMVK 607622Mevalonatepyrophosphatedecarboxylasedeficiency
Porokeratosistype7 AD MVD 603236
Farnesyldiphosphatesynthasedeficiency Porokeratosistype9 AD FDPS 134629Squalenesynthasedeficiency Farnesyldiphosphatefarnesyltransferase1deficiency AR FDFT1 184420Lanosterolsynthasedeficiency 2,3-oxidosqualene-lanosterolcyclasedeficiency;
SterolΔ5-desaturasedeficiency Lathosterolosis AR SC5D 602286
24-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;familial
hyperaldosteronismtype1AD CYP11B1 610613
3-β-hydroxysteroiddehydrogenasedeficiency
AR HSD3B2 613890
17-hydroxylase/17,20-lyasedeficiency AR CYP17A1 609300Steroidogenicacuteregulatoryproteindeficiency
Hereditaryglucocorticoiddeficiencytype2 AR MRAP 609196
Aromatasedeficiency AR CYP19A1 107910Aromatasesuperactivity AD CYP19A1 107910Estrogenreceptordeficiency Estrogenresistance AR ESR1 133430Estrogenreceptor2deficiency AD,AR ESR2 601663Side-chaincleavageenzymedeficiency Desmolasedeficiency AR CYP11A1 118485
Steroid5-α-reductase2deficiency AR SRD5A2 607306Androgenreceptordeficiency Androgeninsensitivitysyndrome XLR AR 313700X-linkedspinalandbulbarmuscularatrophy
Kennedydisease XLR AR 313700
Hydroxysteroidsulfotransferasedeficiency
Autosomalrecessivecongenitalichthyosistype14 AR SULT2B1 604125
Steroidsulfatasedeficiency X-linkedichthyosis XLR STS 300747Chloridechannel2superactivity Familialhyperaldosteronismtype2 AD CLCN2 600570Seealso:Cytochromeb5deficiencyingroup98.97.Disordersofbileacidsynthesis3β-Hydroxy-Δ5-C27-steroidoxidoreductasedeficiency
Congenitalbileacidsynthesisdefecttype1 AR HSD3B7 607764
Δ4-3-oxosteroid5β-reductasedeficiency Congenitalbileacidsynthesisdefecttype2 AR AKR1D1 604741Oxysterol7α-hydroxylasedeficiency Congenitalbileacidsynthesisdefecttype3;
Sterol27-hydroxylasedeficiency Cerebrotendinousxanthomatosis AR CYP27A1 606530α-methylacyl-CoAracemasedeficiency Congenitalbileacidsynthesisdefecttype4 AR AMACR 604489Peroxisomalbranched-chainacyl-CoAoxidasedeficiency
Congenitalbileacidsynthesisdefecttype6 AR ACOX2 601641
CLN3disease Vogt-Spielmeyerdisease AR CLN3 607042CLN4disease AutosomaldominantKufsdisease AD DNAJC5 611203CLN5disease AR CLN5 608102CLN6disease AutosomalrecessiveKufsdiseasetypeA AR CLN6 606725CLN7disease Maculardystrophywithcentralconeinvolvement
(milder)AR MFSD8 611124
CLN8disease AR CLN8 607837CathepsinDdeficiency CLN10disease AR CTSD 116840Progranulindeficiency FrontotemporallobardegenerationwithTDP-43
CathepsinFdeficiency AutosomalrecessiveKufsdiseasetypeB AR CTSF 603539CLN14disease Progressivemyoclonicepilepsytype3 AR KCTD7 611725Seealso:Palmitoyl-proteinthioesterase1deficiencyingroup92.102.Sphingolipidoses Glucocerebrosidasedeficiency Gaucherdisease AR GBA 606463AtypicalGaucherdiseaseduetosaposinCdeficiency
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 245200AtypicalKrabbediseaseduetosaposinAdeficiency
AR PSAP 176801
ArylsulfataseAdeficiency Metachromaticleukodystrophy AR ARSA 607574MetachromaticleukodystrophyduetosaposinBdeficiency
Combinedsaposindeficiency Prosaposindeficiency AR PSAP 176801103.Oligosaccharidosesα-neuraminidasedeficiency Sialidosis AR NEU1 608272CathepsinAdeficiency Galactosialidosis AR CTSA 613111α-mannosidasedeficiency α-mannosidosis AR MAN2B1 609458
β-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
β-glucuronidasedeficiency Mucopolysaccharidosistype7;Slysyndrome AR GUSB 611499Hyaluronidasedeficiency Mucopolysaccharidosistype9;Natowiczsyndrome AR HYAL1 607071ArylsulfataseGdeficiency Ushersyndrometype4 AR ARSG 610008Mucopolysaccharidosis-plussyndrome AR VPS33A 610034106.Disordersoflysosomalcholesterolmetabolism
Niemann-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
Seealso:Methylmalonicaciduriaandhomocystinuria,cblFandcblJtypesingroup26,andmucolipidosistype4ingroup104.108.DisordersoflysosomalproteindegradationCathepsinKdeficiency Pycnodysostosis AR CTSK 601105CathepsinCdeficiency Papillon-Lefevresyndrome;Haim-Munksyndrome AR CTSC 602365CathepsinBsuperactivity AD CTSB 116810Seealso:CathepsinDandFdeficienciesingroup101,andcathepsinAdeficiencyingroup103.
Oxalatetransporterdeficiency AR SLC26A1 610130Seealso:Alanine-glyoxylateaminotransferaseandhydroxyacidoxidase1deficienciesingroup113.
I.CONGENITALDISORDERSOFGLYCOSYLATION115.DisordersofN-linkedglycosylationPhosphomannomutase2deficiency PMM2-CDG AR PMM2 601785Phosphomannoseisomerasedeficiency MPI-CDG AR MPI 154550N-acetylglucosamine-1-phosphatetransferasedeficiency
α-1,3-glucosidaseIIsubunitαdeficiency Polycystickidneydiseasetype3 AD GANAB 104160α-1,3-glucosidaseIIsubunitβdeficiency Polycysticliverdiseasetype1 AD PRKCSH 177060α-1,2-mannosidaseIdeficiency MAN1B1-CDG AR MAN1B1 604346β-1,2-N-acetylglucosaminyltransferaseIIdeficiency
MGAT2-CDG AR MGAT2 602616
α-1,6-fucosyltransferasedeficiency FUT8-CDG AR FUT8 602589Fucokinasedeficiency FUK-CDG AR FUK 608675116.DisordersofO-mannosylationProteinO-mannosyltransferase1deficiency
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
Seealso:Dolicholkinase,dolichol-phosphatemannosesynthasesubunit1,dolichol-phosphatemannosesynthasesubunit2,anddolichol-phosphatemannosesynthasesubunit3deficienciesingroup124,andGDP-mannosepyrophosphorylaseβsubunitdeficiencyingroup126.117.DisordersofO-xylosylationandglycosaminoglycansynthesisXylosyltransferase1deficiency Desbuquoisdysplasiatype2 AR XYLT1 608124Xylosyltransferase2deficiency Spondyloocularsyndrome AR XYLT2 608125β-1,4-galactosyltransferase7deficiency ProgeroidEhlers-Danlossyndrometype1;Larsenof
β-1,3-glucuronyltransferase3deficiency Larsen-likesyndrome AR B3GAT3 606374Exostosinglycosyltransferase1deficiency Multiplehereditaryexostosestype1 AD EXT1 608177Exostosinglycosyltransferase2deficiency Multiplehereditaryexostosestype2 AD EXT2 608210AutosomalrecessiveEXT2-relatedsyndrome(AREXT2)
Dermatan4-sulfotransferase1deficiency Ehlers-Danlossyndromemusculocontracturaltype1 AR CHST14 608429Dermatansulfateepimerasedeficiency Ehlers-Danlossyndromemusculocontracturaltype2 AR DSE 605942CornealN-acetylglucosamine6-O-sulfotransferasedeficiency
Chondrodysplasiawithjointdislocations,gPAPPtype AR IMPAD1 614010
SLC10A7deficiency AR SLC10A7 611459Seealso:UDP-glucuronicacid/UDP-N-acetylgalactosaminedualtransporterdeficiencyingroup127.118.DisordersofO-GalNAcylationPolypeptideN-acetylgalactosaminyltransferase3deficiency
121.DisordersofO-fucosylationProteinO-fucosyltransferasedeficiency Dowling-Degosdiseasetype2 AD POFUT1 607491Fucose-specificβ-1,3-N-acetylglucosaminyltransferasedeficiency
PIGQ-CDG AR PIGQ 605754PIGH-CDG GPIbiosynthesisdefecttype17 AR PIGH 600154PIGL-CDG CHIMEsyndrome;GPIbiosynthesisdefecttype5 AR PIGL 605947PIGW-CDG Hyperphosphatasiawithmentalretardationtype5;
GPIbiosynthesisdefecttype11AR PIGW 610275
PIGM-CDG GPIbiosynthesisdefecttype1 AR PIGM 610273PIGV-CDG Hyperphosphatasiawithmentalretardationtype1;
PIGS-CDG GPIbiosynthesisdefecttype18 AR PIGS 610271GPAA1-CDG GPIbiosynthesisdefecttype15 AR GPAA1 603048PGAP1-CDG Autosomalrecessivementalretardationtype42;GPI
MPDU1-CDG AR MPDU1 604041125.DisordersofmonosaccharidesynthesisandinterconversionUDP-N-acetylglucosamine-2-epimerase/N-acetylmannosaminekinasedeficiency
Jagunal1deficiency Severecongenitalneutropeniatype6 AR JAGN1 616012Congenitaldyserythropoieticanemiatype2
SEC23B-CDG AR SEC23B 610512
Achondrogenesistype1A AR TRIP11 604505TRAPPC11-CDG Limb-girdlemusculardystrophytype2S AR TRAPPC11 614138Cohensyndrome AR VPS13B 607817GOSR2-CDG AR GOSR2 604027129.DisordersofGolgihomeostasis