table s2: disorders with individual families described or ......table s2: disorders with individual...
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TableS2:Disorderswithindividualfamiliesdescribedorpoorlycharacterized(enzymenotknown,noenzymaticormolecularconfirmation).
Group/NameofIMD Alternativenames Inheritance Gene OMIMgenenumber
Reference
2.DisordersofpurinemetabolismAICARtransformylase/IMPcyclohydrolasedeficiency
AICA-ribosiduria AR ATIC 601731 1
Adenosinedeaminasesuperactivity AD ? ? 2–4Adenylatekinase7deficiency Primarymaleinfertilitywith
multiplemorphologicalanomaliesoftheflagella
AR AK7 615364 5
3.DisordersofnucleotidemetabolismEcto-5'-nucleotidasesuperactivity Nucleotidase-associated
pervasivedevelopmentaldisorder? ?NT5E ?129190 6–8
6.DisordersofglutathionemetabolismDipeptidasedeficiency AR ? ? 98.DisordersofaminoacidtransportLysinemalabsorptionsyndrome ? ? ? 10Dibasicaminoaciduriatype1 AD ? ? 11Methioninemalabsorptionsyndrome Oasthousedisease;Smith-Strang
disease;methioninuria? ? ? 12–15
Cationicaminoacidtransporter2deficiency
AR SLC7A2 601872 16
Cationicaminoacidtransporter3deficiency
XLR SLC7A3 300443 17
10.DisordersofmonoaminemetabolismNorepinephrinetransporterdeficiency
AD SLC6A2 163970 18–20
13.DisordersofsulfuraminoacidandsulfidemetabolismMethionineadenosyltransferaseIIdeficiency
AD MAT2A 601468 21
Mercaptopyruvatesulfurtransferasedeficiency
β-mercaptolactatecysteinedisulfiduria
?AR ?MPST ?602496 22–28
14.Disordersofbranched-chainaminoacidmetabolism
Branched-chainketoaciddehydrogenasephosphatasedeficiency
AR PPM1K 611065 29
3-hydroxyisobutyratedehydrogenasedeficiency
AR HIBADH 608475 30
15.DisordersoflysinemetabolismDiaminopentanuria Cystine-lysinuria ? ? ? 31,32Hydroxylysinuria AR ?HYKK ?614681 33–3516.DisordersofprolineandornithinemetabolismSpermidine/spermineN(1)-acetyltransferasesuperactivity
XL SAT1 313020 36
17.Disordersofβ-andγ-aminoacidsHyper-β-alaninemia ? ? ? 37,38GABAtypeAreceptorα6subunitdeficiency
AD GABRA6 137143 39,40
GABAtypeAreceptorδsubunitdeficiency
AR GABRD 137163 41
Serumcarnosinasedeficiency Carnosinemia;homocarnosinosis AR ?CNDP1 ?609064 42–4718.DisordersofhistidinemetabolismUrocanasedeficiency Urocanicaciduria AR UROC1 613012 48–50Histidinuria AR ? ? 51–5419.DisordersoftryptophanmetabolismKynurenine-3-hydroxylasedeficiency ? KMO 603538 55Aminocarboxymuconatesemialdehydedecarboxylasesuperactivity
Picolinatecarboxylasesuperactivity
AR ACMSD 608889 56
Bluediapersyndrome ? ? ? 5720.DisordersofglutamatemetabolismGlutamatedecarboxylase1deficiency Spasticcerebralpalsytype1 AR GAD1 605363 5821.DisordersofglutaminemetabolismGlutaminase1superactivity AD GLS 138280 5924.DisordersofglycinemetabolismGlycineencephalopathyduetoHproteindeficiency
AR GCSH 238330 60,61
25.Disordersoflipoicacidandiron-sulfurmetabolism
Ferredoxin2deficiency AR FDX2 614585 62ISD11deficiency Combinedoxidative
phosphorylationdeficiency19AR LYRM4 613311 63
NFS1deficiency InfantilemitochondrialcomplexII/IIIdeficiency(IMC23D)
AR NFS1 603485 64
26.DisordersofcobalaminmetabolismMethylmalonicaciduriaandhomocystinuriaduetoZNF143deficiency
AR ZNF143 603433 65
MethylmalonicaciduriaandhomocystinuriaduetoRonindeficiency
AR THAP11 609119 66
28.DisordersofbiotinmetabolismSodium-dependentmultivitamintransporterdeficiency
AR SLC5A6 604024 67
33.DisordersofpyridoxinemetabolismIntestinalalkalinephosphataseanchoringdeficiency
AD ALPI 171740 68
35.DisordersofvitaminAmetabolismRetinoldehydrogenase11deficiency Retinaldystrophy,juvenile
cataracts,andshortstaturesyndrome
AR RDH11 607849 69
41.DisordersofironmetabolismFerritinheavychaindysregulation Hereditaryhemochromatosistype
5AD FTH1 134770 70
43.DisordersofzincmetabolismAsymptomaticfamilialhyperzincemia AD ? ? 71,72Hyperzincemiawithhypercalprotectinemia
? ? ? 73–78
45.DisordersofmagnesiummetabolismEpidermalgrowthfactordeficiency Isolatedautosomalrecessive
hypomagnesemia;renalhypomagnesemiatype4
AR EGF 131530 79
KCNA1deficiency AD KCNA1 176260 80,8146.Disordersofcarbohydratetransportandabsorption
MAP17deficiency Familialrenalglucosuriatype2 AR PDZK1IP1 607178 8249.DisordersofthepentosephosphatepathwayandpolyolmetabolismL-arabinosuria ? ? ? 83Sorbitoldehydrogenasedeficiency AR SORD 182500 84,8550.DisordersofinsulinsecretionandsignalingAKT2deficiency AD AKT2 164731 8651.GlycogenstoragediseasesHOIL1interactingproteindeficiency AR RNF31 612487 8752.DisordersofgluconeogenesisMitochondrialphosphoenolpyruvatecarboxykinasedeficiency
AR PCK2 614095 88,89
55.DisordersoftheKrebscycleα-ketoglutaratedehydrogenasedeficiency
AR OGDH 613022 90–94
Mitochondrialmalatedehydrogenasedeficiency,tumoralphenotype
Familialparaganglioma AR MDH2 154100 95
57.DisordersofmitochondrialcarriersMitochondrialaspartateaminotransferasedeficiency
AR GOT2 138150 96
Mitochondrialdicarboxylatetransporterdeficiency
AR SLC25A10 606794 97
Mitochondrialoxodicarboxylatecarrierdeficiency
AR SLC25A21 607571 98
58.DisordersofcomplexIsubunitsNADHdehydrogenaseαsubcomplexsubunit11deficiency
AR NDUFA11 612638 99
NADHdehydrogenaseαsubcomplexsubunit13deficiency
AR NDUFA13 609435 100
NADHdehydrogenaseβsubcomplexsubunit9deficiency
AR NDUFB9 601445 101
NADHdehydrogenaseβsubcomplexsubunit10deficiency
AR NDUFB10 603843 102
59.DisordersofcomplexIassemblyNADHdehydrogenaseαsubcomplexassemblyfactor7deficiency
AD NDUFAF7 615898 103
62.DisordersofcomplexIIIsubunitsUQCRQdeficiency AR UQCRQ 612080 10463.DisordersofcomplexIIIassemblyUQCC3deficiency AR UQCC3 616097 10564.DisordersofcomplexIVsubunitsCytochromecoxidasesubunit8Adeficiency
AR COX8A 123870 106
Cytochromecoxidasesubunit4I1deficiency
AR COX4I1 123864 107
Cytochromecoxidasesubunit5Adeficiency
AR COX5A 603773 108
65.DisordersofcomplexIVassemblyandancillaryproteinsCytochromecoxidaseassemblyfactor3deficiency
AR COA3 614775 109
Cytochromecoxidaseassemblyfactor5deficiency
AR COA5 613920 110
Cytochromecoxidaseassemblyfactor7deficiency
AR COA7 615623 111
Cytochromecoxidaseassemblyfactor14deficiency
AR COX14 614478 112
NADHdehydrogenaseαsubcomplexsubunit4deficiency
AR NDUFA4 603833 113
CEP89deficiency AR CEP89 615470 114ALDH1B1deficiency AR ALDH1B1 100670 115PET117deficiency AR PET117 614771 11667.DisordersofcomplexVassemblyMitochondrialATPsynthaseF1assemblyfactor2deficiency
AR ATPAF2 608918 117
69.DisordersofmitochondrialDNAdepletion,multipledeletion,orintergenomiccommunicationMitochondrialUMP-CMPkinase2deficiency
AR CMPK2 611787 118
70.DisordersofmitochondrialtranscriptionandRNAtranscriptprocessingMitochondrialtranscriptionfactorAdeficiency
AR TFAM 600438 119
Mitochondrialpoly(A)exoribonucleasedeficiency
AR PDE12 616519 120
Mitochondrialmethionyl-tRNAmethyltransferasedeficiency
AR NSUN3 617491 121
71.MitochondrialribosomopathiesMitochondrialribosomallargesubunit12deficiency
AR MRPL12 602375 122
Mitochondrialribosomalsmallsubunit7deficiency
AR MRPS7 611974 123
Mitochondrialribosomalsmallsubunit14deficiency
AR MRPS14 611978 124
Mitochondrialribosomalsmallsubunit23deficiency
AR MRPS23 611985 125
Mitochondrialribosomalsmallsubunit28deficiency
AR MRPS28 611990 126
MitochondrialrRNAmethyltransferaseMRM2deficiency
AR MRM2 606906 127
74.DisordersofmitochondrialtRNAincorporationandrecyclingMitochondrialthreonyl-tRNAsynthetasedeficiency
Combinedoxidativephosphorylationdeficiencytype21
AR TARS2 612805 128,129
Mitochondrialglutamyl-tRNA(Gln)amidotransferasesubunitCdeficiency
AR GATB 603645 130
77.DisordersofmitochondrialphospholipidmetabolismPhosphatidylserinedecarboxylasedeficiency
AR PISD 612770 131
PNPLA4deficiency XLR PNPLA4 300102 12578.DisordersofmitochondrialproteinimportTIMM22deficiency AR TIMM22 607251 13279.DisordersofmitochondrialproteinqualitycontrolYME1L1deficiency Opticatrophytype11 AR YME1l1 607472 133HSPE1deficiency AD HSPE1 600141 13480.Otherdisordersofmitochondrialhomeostasis
Mitochondrialthioredoxin2deficiency
Combinedoxidativephosphorylationdeficiencytype29
AR TXN2 609063 135
Mitochondrialthioredoxinreductase2deficiency
SelenoproteinZdeficiency;glucocorticoiddeficiencytype5
AR TXNRD2 606448 136
MICU2deficiency AR MICU2 610632 13781.PrimaryCoQ10deficienciesCOQ5deficiency AR COQ5 616359 13882.DisordersofcarnitinemetabolismCarnitinepalmitoyltransferase1Cdeficiency
Autosomaldominantspasticparaplegiatype73
AR CPT1C 608846 139
γ-butyrobetainehydroxylasedeficiency
AR BBOX1 603312 140
Carnitineacetyltransferasedeficiency AR CRAT 600184 141,14283.DisordersoffattyacidoxidationandtransportLong-chainacyl-CoAdehydrogenasedeficiency
AR ACADL 609576 143
Medium-chain3-ketoacyl-CoAthiolase(MCKAT)deficiency
? ? ? 144
Isolatedmitochondriallong-chainketoacyl-CoAthiolasedeficiency
AR HADHB 143450 145
Long-chainfattyacidplasmamembranetransporterdeficiency
? ? ? 146
84.DisordersofketonebodymetabolismCytosolicacetoacetyl-CoAthiolasedeficiency
? ACAT2 100678 147,148
85.DisordersoffattyacidsynthesisandelongationCytosolicacetyl-CoAcarboxylase1deficiency
? ACACA 200350 149
Mitochondrialacetyl-CoAcarboxylase2deficiency
AR ACACB 601557 96
3-Hydroxyacyl-CoAdehydratase1deficiency
AR HACD1 610467 150
Trans-2-enoyl-CoAreductasedeficiency
Autosomalrecessivementalretardationtype14
AR TECR 610057 151
88.DisordersofcytoplasmictriglyceridemetabolismPerilipin5deficiency AR PLIN5 613248 15289.Disordersofnon-mitochondrialphospholipidmetabolismFattyacidamidehydrolase2deficiency
XLR FAAH2 300654 153
90.Disordersofnon-lysosomalsphingolipidmetabolismCeramidesynthase1deficiency Progressivemyoclonicepilepsy
type8AR CERS1 606919 154,155
Ceramidesynthase2deficiency AD CERS2 606920 156UDP-glucoseceramideglucosyltransferasedeficiency
Autosomalrecessivecongenitalichthyosis
AR UGCG 602874 157
Alkalineceramidase3deficiency Earlychildhood-onsetprogressiveleukodystrophy
AR ACER3 617036 158
91.DisordersofeicosanoidmetabolismLeukotrieneC4synthasedeficiency AR ?LTC4S 246530 159,16092.DisordersofpalmitoylationZDHHC15palmitoyltransferasedeficiency
X-linkedmentalretardationtype91
XLD ZDHHC15 300576 161
Hedgehogacyltransferasedeficiency AR HHAT 605743 16293.DisordersofphosphoinositidemetabolismPhosphatidylinositol4,5-bisphosphate3-kinaseregulatorysubunitdeficiency
Ataxia-oculomotorapraxiatype3 AD PIK3R5 611317 163
Phosphatidylinositol4,5-bisphosphatephospholipaseCβ3deficiency
Spondylometaphysealdysplasiawithcornealdystrophyanddevelopmentaldelay
AR PLCB3 600230 164
Inositol1,4,5-triphosphatereceptortype2deficiency
Isolatedanhidrosiswithnormalsweatglands
AR ITPR2 600144 165
95.DisordersofcholesterolbiosynthesisGeranylgeranylpyrophosphatesynthasedeficiency
Atypicalfemoralfractureswithbisphosphonates
AD GGPS1 606982 166,167
Lanosterol14α-demethylasedeficiency
AR CYP51A1 601637 168
96.DisordersofsteroidmetabolismMineralocortoidreceptorsuperactivity
Early-onsethypertensionwithexacerbationinpregnancy
AD NR3C2 600983 169
Progesteronereceptordeficiency ? ?PGR ?607311 17097.DisordersofbileacidsynthesisCholesterol7α-hydroxylasedeficiency AR CYP7A1 118455 171PMP70deficiency Congenitalbileacidsynthesis
defecttype5AR ABCD3 170995 172
BileacidCoAligasedeficiency AR SLC27A5 603314 17398.DisordersofhememetabolismCLPXdeficiency Erythropoieticprotoporphyria
type2AD CLPX 615611 174
100.DisordersofautophagyATG5deficiency Autosomalrecessive
spinocerebellarataxiatype25AR ATG5 604261 175
105.Disordersofglycosaminoglycandegradationβ-xylosidasedeficiency ? ? ? 176110.Disordersofperoxisomalβ-oxidationAcyl-CoA-bindingdomain-containingprotein5deficiency
AR ACBD5 616618 177,178
115.DisordersofN-linkedglycosylationOligosaccharyltransferaseDDOSTsubunitdeficiency
DDOST-CDG AR DDOST 602202 179
OligosaccharyltransferaseSTT3Bsubunitdeficiency
STT3B-CDG AR STT3B 608605 180
MAN2B2-CDG AR MAN2B2 - 181β-1,4-galactosyltransferasedeficiency B4GALT1-CDG AR B4GALT1 137060 182117.DisordersofO-xylosylationandglycosaminoglycansynthesisChondroitinsulfateN-acetylgalactosaminyltransferase1deficiency
AR CSGALNACT1 616615 183
122.DisordersofglycosylphosphatidylinositolbiosynthesisPIGP-CDG GPIbiosynthesisdefecttype14;
earlyinfantileepilepticencephalopathytype55
AR PIGP 605938 184
PIGY-CDG Hyperphosphatasiawithmentalretardationtype6;GPIbiosynthesisdefecttype12
AR PIGY 610662 185
125.DisordersofmonosaccharidesynthesisandinterconversionN-acetylneuraminatepyruvatelyasedeficiency
Sialicacidaldolasedeficiency AR NPL 611412 186
128.DisordersofvesiculartraffickingConservedoligomericGolgicomplexsubunit2deficiency
COG2-CDG AR COG2 606974 187
DisorderofADP-ribosylationGlutamylribose5-phosphatestoragedisease
?XLR ? ? 188–191
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