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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00166 | Hermansky-Pudlak syndrome | Hermansky-Pudlak syndrome (HPS) is a group of autosomal recessive disorders caused by defects in lysosome-related organelles and characterized by albinism and prolonged bleeding. | Inherited metabolic disorder |
(HPS1) HPS1 [HSA:3257] [KO:K20193] (HPS2) AP3B1 [HSA:8546] [KO:K12397] (HPS3) HPS3 [HSA:84343] [KO:K20190] (HPS4) HPS4 [HSA:89781] [KO:K20194] (HPS5) HPS5 [HSA:11234] [KO:K20191] (HPS6) HPS6 [HSA:79803] [KO:K20192] (HPS7) DTNBP1 [HSA:84062] [KO:K20189] (HPS8) BLOC1S3 [HSA:388552] [KO:K20186] (HPS9) BLOC1S6 [HSA:26258] [KO:K20188] (HPS10) AP3D1 [HSA:8943] [KO:K12396] (HPS11) BLOC1S5 [HSA:63915] [KO:K20187] |
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