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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00628 | Congenital bile acid synthesis defect | ... catalyzing key reactions in bile acid synthesis. CBAS type 1, 2 ,3 and 4 are due to mutations in HSD3B7, AKR1D1, CYP7B1, and AMACR, respectively. Inherited mutations that impair bile acid synthesis cause a ... | Inherited metabolic disorder |
(CBAS1) HSD3B7 [HSA:80270] [KO:K12408] (CBAS2) AKR1D1 [HSA:6718] [KO:K00251] (CBAS3) CYP7B1 [HSA:9420] [KO:K07430] (CBAS4) AMACR [HSA:23600] [KO:K01796] (CBAS5) ABCD3 [HSA:5825] [KO:K05677] (CBAS6) ACOX2 [HSA:8309] [KO:K10214] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |