Hermansky-Pudlak Syndrome 1 (HPS1)

Hermansky-Pudlak Syndrome 1, also known as albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells, is related to pulmonary fibrosis and hermansky-pudlak syndrome 6, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 1 is HPS1 (HPS1 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1), 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 lung and skin, and related phenotypes are nystagmus and photophobia