Hermansky-Pudlak syndrome without pulmonary fibrosis
Findings
No curated finding names Hermansky-Pudlak syndrome without pulmonary fibrosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.
Definition from the Mondo Disease Ontology (MONDO:0016502), read 2026-09-29. CC BY 4.0.
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
1 name
Resolves to: Hermansky-Pudlak syndrome without pulmonary fibrosis
- Also called
- HPS without pulmonary fibrosis