Hermansky-Pudlak Syndrome 9 (HPS9)

Hermansky-Pudlak Syndrome 9, also known as hps9, is related to hermansky-pudlak syndrome 1 and hermansky-pudlak syndrome 5, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 9 is BLOC1S6 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 6), and among its related pathways/superpathways is trans-Golgi Network Vesicle Budding. The drugs Pirfenidone and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and skin, and related phenotypes are nystagmus and thrombocytopenia