Hermansky-Pudlak Syndrome 2 (HPS2)

Hermansky-Pudlak Syndrome 2, also known as hps2, is related to hermansky-pudlak syndrome 1 and storage pool platelet disease, and has symptoms including photophobia and abdominal pain. An important gene associated with Hermansky-Pudlak Syndrome 2 is AP3B1 (Adaptor Related Protein Complex 3 Subunit Beta 1), and among its related pathways/superpathways are Vesicle-mediated transport and trans-Golgi Network Vesicle Budding. The drugs Pirfenidone and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include skin and bone marrow, and related phenotypes are nystagmus and coarse facial features