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Hermansky-Pudlak syndrome 1
rareAny Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene, causing defects of melanosomes and absence of platelet dense bodies. Core features include oculocutaneous albinism with nystagmus and reduced visual acuity, and a platelet‑type bleeding diathesis. Some individuals develop pulmonary fibrosis and/or granulomatous colitis.
- Identifiers
- MONDO:0008748 OMIM:203300
- Causal genes
- HPS1
- Also known as
- albinism with hemorrhagic diathesis and pigmented · delta storage pool disease · Hermansky-Pudlak syndrome caused by mutation in HPS1 · HPS1 · HPS1 Hermansky-Pudlak syndrome
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