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Entry Name Description Category Pathway Gene
H00624 Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The ... Inherited metabolic disorder (PFIC1) ATP8B1 [HSA:5205] [KO:K01530]
(PFIC2) ABCB11 [HSA:8647] [KO:K05664]
(PFIC3) ABCB4 [HSA:5244] [KO:K05659]
(PFIC4) TJP2 [HSA:9414] [KO:K06098]
(PFIC5) NR1H4 [HSA:9971] [KO:K08537]
(PFIC6) SLC51A [HSA:200931] [KO:K14360]
(PFIC7) USP53 [HSA:54532]
(PFIC8) KIF12 [HSA:113220] [KO:K10399]
(PFIC9) ZFYVE19 [HSA:84936] [KO:K24778]
(PFIC10) MYO5B [HSA:4645] [KO:K10357]
(PFIC11) SEMA7A [HSA:8482] [KO:K06529]
(PFIC12) VPS33B [HSA:26276] [KO:K23281]
H01204 Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) is autosomal recessive, genetically heterogeneous conditions characterized by early onset of cerebellar ataxia and MR. Patients ... Nervous system disease (CAMRQ1) VLDLR [HSA:7436] [KO:K20053]
(CAMRQ2) WDR81 [HSA:124997] [KO:K17601]
(CAMRQ3) CA8 [HSA:767] [KO:K01672]
(CAMRQ4) ATP8A2 [HSA:51761] [KO:K14802]
H01355 Kearns-Sayre syndrome Kearns-Sayre Syndrome is a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia. This disease is caused by various large-scale deletions of ... Inherited metabolic disorder MT-ATP6 [HSA:4508] [KO:K02126]
MT-ATP8 [HSA:4509] [KO:K02125]
MT-CO3 [HSA:4514] [KO:K02262]
MT-CYB [HSA:4519] [KO:K00412]
MT-ND3 [HSA:4537] [KO:K03880]
MT-ND4 [HSA:4538] [KO:K03881]
MT-ND4L [HSA:4539] [KO:K03882]
MT-ND5 [HSA:4540] [KO:K03883]
MT-ND6 [HSA:4541] [KO:K03884]
H01369 ATP synthase deficiency ... months or years. It has been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ATPAF2 and TMEM70. Recently, mutations have ... Inherited metabolic disorder, Mitochondrial disease (MC5DN1) ATPAF2 [HSA:91647] [KO:K07556]
(MC5DN2) TMEM70 [HSA:54968] [KO:K17966]
(MC5DN3) ATP5F1E [HSA:514] [KO:K02135]
(MC5DN4A/4B) ATP5F1A [HSA:498] [KO:K02132]
(MC5DN5) ATP5F1D [HSA:513] [KO:K02134]
(MC5DN6) ATP5MK [HSA:84833] [KO:K18194]
(MC5DN7) ATP5PO [HSA:539] [KO:K02137]
(MC5DM1/NARP/MIBSN) ATP6 [HSA:4508] [KO:K02126]
H02192 Benign recurrent intrahepatic cholestasis ... characterized by intermittent episodes of severe cholestatic jaundice. It is caused by mutations in the ATP8B1 and ABCB11 genes, which are the same as in progressive familial intrahepatic cholestasis 1 and ... Digestive system disease (BRIC1) ATP8B1 [HSA:5205] [KO:K01530]
(BRIC2) ABCB11 [HSA:8647] [KO:K05664]
H02193 Intrahepatic cholestasis of pregnancy
Obstetric cholestasis 		Intrahepatic cholestasis of pregnancy (ICP), also called obstetric cholestasis, is the most common pregnancy-specific liver disease. Classic symptoms include generalized pruritus that commonly includes ... Digestive system disease (ICP1) ATP8B1 [HSA:5205] [KO:K01530]
(ICP3) ABCB4 [HSA:5244] [KO:K05659]
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