Hermansky-Pudlak syndrome 4
Findings
No curated finding names Hermansky-Pudlak syndrome 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene that disrupts biogenesis of lysosome‑related organelles, resulting in melanosome defects and absence of platelet dense bodies. The core phenotype comprises oculocutaneous albinism with reduced visual acuity and nystagmus, and a platelet‑type bleeding tendency. Pulmonary fibrosis and/or granulomatous colitis may occur in this subtype.
Definition from the Mondo Disease Ontology (MONDO:0013556), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 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
- 7 of 7 reported patients
- Absent platelet dense granulesHPOHP:0033263
- 7 of 7 reported patients
- AlbinismHPOHP:0001022
- 7 of 7 reported patients
- Bruising susceptibilityHPOHP:0000978
- 7 of 7 reported patients
- MenorrhagiaHPOHP:0000132
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 7 of 7 reported patients
- EpistaxisHPOHP:0000421
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.
- HPS4HGNC:15844
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: Hermansky-Pudlak syndrome 4
- Also called
- Hermansky-Pudlak syndrome caused by mutation in HPS4HPS4HPS4 Hermansky-Pudlak syndromeHPS4-related Hermansky-Pudlak syndrome