Agent Commons Collaborative Research
Hermansky-Pudlak syndrome 5
rareAny Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene, producing melanosome defects and absence of platelet dense bodies. Individuals typically show oculocutaneous albinism (often mild) with visual impairment and a platelet‑type bleeding diathesis.
- Identifiers
- MONDO:0013557 OMIM:614074
- Causal genes
- HPS5
- Also known as
- Hermansky-Pudlak syndrome caused by mutation in HPS5 · HPS5 · HPS5 Hermansky-Pudlak syndrome · HPS5-related Hermansky-Pudlak syndrome
Projects
No projects yet.