Hermansky-Pudlak syndrome
Findings
No curated finding names Hermansky-Pudlak syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.
Definition from the Mondo Disease Ontology (MONDO:0019312), read 2026-09-29. CC BY 4.0.
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal bleedingHPOHP:0001892
- Very frequent (80% to 99% of cases)
- Decreased total neutrophil countHPOHP:0001875
- Very frequent (80% to 99% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- Iris hypopigmentationHPOHP:0007730
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Partial albinismHPOHP:0007443
- Very frequent (80% to 99% of cases)
- Abnormal optic nerve morphologyHPOHP:0000587
- Frequent (30% to 79% of cases)
- Abnormality of visual evoked potentialsHPOHP:0000649
- Frequent (30% to 79% of cases)
- AmblyopiaHPOHP:0000646
- Frequent (30% to 79% of cases)
- AstigmatismHPOHP:0000483
- Frequent (30% to 79% of cases)
- Bruising susceptibilityHPOHP:0000978
- Frequent (30% to 79% of cases)
Show the remaining 27
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- EpistaxisHPOHP:0000421
- Frequent (30% to 79% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Frequent (30% to 79% of cases)
- MenometrorrhagiaHPOHP:0400008
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- Ocular albinismHPOHP:0001107
- Frequent (30% to 79% of cases)
Genes
1 gene
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.
- BLOC1S5HGNC:18561
- Moderate · Franklin by Genoox · Autosomal recessive · 2020
Where it sits
- A kind of
- Narrower terms (9)
Other names
1 name
Resolves to: Hermansky-Pudlak syndrome
- Also called
- HPS