Hermansky-Pudlak Syndrome Due to Bloc-3 Deficiency

Hermansky-Pudlak Syndrome Due to Bloc-3 Deficiency, also known as hermansky-pudlak syndrome with pulmonary fibrosis, is related to hermansky-pudlak syndrome and hermansky-pudlak syndrome 1. An important gene associated with Hermansky-Pudlak Syndrome Due to Bloc-3 Deficiency is HPS1 (HPS1 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1), and among its related pathways/superpathways is Rab regulation of trafficking. Affiliated tissues include skin and eye, and related phenotypes are pigmentation and hearing/vestibular/ear