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Entry Name Description Category Pathway Gene
H00072 Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA ... Inherited metabolic disorder (PDHAD) PDHA1 [HSA:5160] [KO:K00161]
(PDHBD) PDHB [HSA:5162] [KO:K00162]
(PDHDD) DLAT [HSA:1737] [KO:K00627]
(PDHPD) PDP1 [HSA:54704] [KO:K01102]
(PDHXD) PDHX [HSA:8050] [KO:K13997]
(DLDD) DLD [HSA:1738] [KO:K00382]
H00165 Tyrosinemia The tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. Type I, the most severe form of tyrosinemia, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH) ... Inherited metabolic disorder (TYRSN1) FAH [HSA:2184] [KO:K01555]
(TYRSN2) TAT [HSA:6898] [KO:K00815]
(TYRSN3) HPD [HSA:3242] [KO:K00457]
H00266 Hereditary spastic paraplegia Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity. Nervous system disease (SPG1) L1CAM [HSA:3897] [KO:K06550]
(SPG2) PLP1 [HSA:5354] [KO:K17271]
(SPG3) ATL1 [HSA:51062] [KO:K17339]
(SPG4) SPAST [HSA:6683] [KO:K13254]
(SPG5) CYP7B1 [HSA:9420] [KO:K07430]
(SPG6) NIPA1 [HSA:123606] [KO:K19364]
(SPG7) SPG7 [HSA:6687] [KO:K09552]
(SPG8) WASHC5 [HSA:9897] [KO:K18464]
(SPG9) ALDH18A1 [HSA:5832] [KO:K12657]
(SPG10) KIF5A [HSA:3798] [KO:K10396]
(SPG11) SPG11 [HSA:80208] [KO:K19026]
(SPG12) RTN2 [HSA:6253] [KO:K20722]
(SPG13) HSPD1 [HSA:3329] [KO:K04077]
(SPG15) ZFYVE26 [HSA:23503] [KO:K19027]
(SPG17) BSCL2 [HSA:26580] [KO:K19365]
(SPG18A/18B) ERLIN2 [HSA:11160] [KO:K23341]
(SPG20) SPART [HSA:23111] [KO:K19366]
(SPG21) SPG21 [HSA:51324] [KO:K19367]
(SPG23) DSTYK [HSA:25778] [KO:K16288]
(SPG26) B4GALNT1 [HSA:2583] [KO:K00725]
(SPG28) DDHD1 [HSA:80821] [KO:K13619]
(SPG30) KIF1A [HSA:547] [KO:K10392]
(SPG31) REEP1 [HSA:65055] [KO:K17338]
(SPG33) ZFYVE27 [HSA:118813] [KO:K19368]
(SPG35) FA2H [HSA:79152] [KO:K19703]
(SPG39) PNPLA6 [HSA:10908] [KO:K14676]
(SPG42) SLC33A1 [HSA:9197] [KO:K03372]
(SPG43) C19orf12 [HSA:83636] [KO:K23168]
(SPG44) GJC2 [HSA:57165] [KO:K07619]
(SPG45) NT5C2 [HSA:22978] [KO:K01081]
(SPG46) GBA2 [HSA:57704] [KO:K17108]
(SPG47) AP4B1 [HSA:10717] [KO:K12401]
(SPG48) AP5Z1 [HSA:9907] [KO:K19025]
(SPG49) TECPR2 [HSA:9895] [KO:K23881]
(SPG50) AP4M1 [HSA:9179] [KO:K12402]
(SPG51) AP4E1 [HSA:23431] [KO:K12400]
(SPG52) AP4S1 [HSA:11154] [KO:K12403]
(SPG53) VPS37A [HSA:137492] [KO:K12185]
(SPG54) DDHD2 [HSA:23259] [KO:K16545]
(SPG55) MTRFR [HSA:91574] [KO:K23498]
(SPG56) CYP2U1 [HSA:113612] [KO:K07422]
(SPG57) TFG [HSA:10342] [KO:K09292]
(SPG61) ARL6IP1 [HSA:23204] [KO:K24864]
(SPG62) ERLIN1 [HSA:10613] [KO:K23341]
(SPG63) AMPD2 [HSA:271] [KO:K01490]
(SPG64) ENTPD1 [HSA:953] [KO:K01510]
(SPG70) MARS1 [HSA:4141] [KO:K01874]
(SPG72A/72B) REEP2 [HSA:51308] [KO:K17338]
(SPG73) CPT1C [HSA:126129] [KO:K19524]
(SPG74) IBA57 [HSA:200205] [KO:K22073]
(SPG75) MAG [HSA:4099] [KO:K06771]
(SPG76) CAPN1 [HSA:823] [KO:K01367]
(SPG77) FARS2 [HSA:10667] [KO:K01889]
(SPG78) ATP13A2 [HSA:23400] [KO:K13526]
(SPG79A/79B) UCHL1 [HSA:7345] [KO:K05611]
(SPG80) UBAP1 [HSA:51271] [KO:K24629]
(SPG81) SELENOI [HSA:85465] [KO:K00993]
(SPG82) PCYT2 [HSA:5833] [KO:K00967]
(SPG83) HPDL [HSA:84842] [KO:K24788]
(SPG84) PI4KA [HSA:5297] [KO:K00888]
(SPG85) RNF170 [HSA:81790] [KO:K15707]
(SPG86) ABHD16A [HSA:7920] [KO:K25824]
(SPG87) TMEM63C [HSA:57156] [KO:K21989]
(SPG88) KPNA3 [HSA:3839] [KO:K23583]
(SPG89) AMFR [HSA:267] [KO:K10636]
(SPG90A/90B) SPTSSA [HSA:171546] [KO:K26384]
(SPG91) SPTAN1 [HSA:6709] [KO:K06114]
H00543 Renal-hepatic-pancreatic dysplasia Renal-hepatic-pancreatic dysplasia (RHPD) is a rare lethal disorder characterized by pancreatic cyst formation in addition to the combination of renal dysplasia and hepatic fibrosis. NPHP3-null mutations ... Congenital malformation (RHPD1) NPHP3 [HSA:27031] [KO:K19360]
(RHPD2) NEK8 [HSA:284086] [KO:K20877]
H02470 Neurodevelopmental disorder with structural brain abnormalities Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying ... Congenital malformation (NDAGSCW) RAB11B [HSA:9230] [KO:K07905]
(NEDBAVC) DHX37 [HSA:57647] [KO:K14780]
(NEDCHS) INTS8 [HSA:55656] [KO:K13145]
(NEDCAS) BRAT1 [HSA:221927] [KO:K23112]
(NEDEHCC) LNPK [HSA:80856] [KO:K23292]
(NEDBAS) DLL1 [HSA:28514] [KO:K06051]
(NEDSBAS) WDR45B [HSA:56270] [KO:K22991]
(NEDSWMA) HPDL [HSA:84842] [KO:K24788]
(NEDVIBA) HK1 [HSA:3098] [KO:K00844]
(NEDBA) MAPK8IP3 [HSA:23162] [KO:K04436]
(NECFM) NACC1 [HSA:112939] [KO:K10486]
(NEDMHM) ARHGEF2 [HSA:9181] [KO:K12791]
(NEDBASS) PTPN23 [HSA:25930] [KO:K18040]
(NEDABA) ODC1 [HSA:4953] [KO:K01581]
(NEDESBA) TRAPPC4 [HSA:51399] [KO:K20303]
(NEDASB) NOVA2 [HSA:4858] [KO:K14944]
(NEDCAM) GEMIN5 [HSA:25929] [KO:K13133]
(NEDSCAC) MED27 [HSA:9442] [KO:K15170]
(NEDCASB) SHMT2 [HSA:6472] [KO:K00600]
(NEDHSB) SPATA5 [HSA:166378] [KO:K14575]
(NEDMLHB) TAF8 [HSA:129685] [KO:K14649]
(NEDSSBA) NSRP1 [HSA:84081] [KO:K13206]
(NEDMLOB) INTS11 [HSA:54973] [KO:K13148]
(NEDMSB) PI4K2A [HSA:55361] [KO:K13711]
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