Hermansky-Pudlak Syndrome

About the Disease
Hermansky-Pudlak Syndrome, also known as hps, is related to hermansky-pudlak syndrome 2 and hermansky-pudlak syndrome 5, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome is HPS6 (HPS6 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3), and among its related pathways/superpathways are Vesicle-mediated transport and trans-Golgi Network Vesicle Budding. The drugs Pirfenidone and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and lung, and related phenotypes are nystagmus and immunodeficiency

Common Targets
TYR | HPS4 | AP3B1 | NOD2 | G673 | Transforming growth factor beta (nonspecified subtype) | DTNBP1 | HPS1 | HPS5 | HPS3 | G7124 | BLOC1S6 | HPS6

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