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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00208 | Hyperbilirubinemia | ... glucuronide and xenobiotic export pump. Rotor syndrome (RS) is caused by mutations in the SLCO1B1 and SLCO1B3 genes that encode organic anion transporters. In both DJS and RS, mild jaundice begins shortly ... | Inherited metabolic disorder |
(CN1, CN2) UGT1A1 [HSA:54658] [KO:K00699] (DJS) ABCC2 [HSA:1244] [KO:K05666] (RS) SLCO1B1 [HSA:10599] [KO:K05043] (RS) SLCO1B3 [HSA:28234] [KO:K05043] |
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| H02057 | Rotor syndrome | Rotor syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics. It is linked to mutations predicted ... | Inherited metabolic disorder |
SLCO1B1 [HSA:10599] [KO:K05043] SLCO1B3 [HSA:28234] [KO:K05043] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |