Hermansky–Pudlak syndrome

Quick Reference

A genetically heterogeneous disorder characterized by oculocutaneous albinism, prolonged bleeding, and pulmonary fibrosis due to abnormal vesicle trafficking to lysosomes and related organelles, such as melanosomes and platelet dense granules. The syndrome can be caused by mutation in several genes, HPS1–6: The products of the HPS1 and HPS4 genes form a lysosomal complex termed BLOC3 (biogenesis of lysosome-related organelles complex-3). Hermansky–Pudlak syndrome type 2 (HPS2 ), which is further complicated by immunodeficiency, is caused by mutation in the gene encoding the β-3A subunit of the adaptor protein 3 complex. HPS type 7 is caused by mutation in the dystrobrevin binding protein gene and type 8 by mutation in the BLOC1 gene.

Subjects: Medicine and Health.

Reference entries