Hermansky-Pudlak syndrome with pulmonary fibrosis
Findings
No curated finding names Hermansky-Pudlak syndrome with pulmonary fibrosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.
Definition from the Mondo Disease Ontology (MONDO:0016501), read 2026-09-29. CC BY 4.0.
Genes
2 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
Other names
1 name
Resolves to: Hermansky-Pudlak syndrome with pulmonary fibrosis
- Also called
- HPS with pulmonary fibrosis