Hermansky-Pudlak syndrome 5
Findings
No curated finding names Hermansky-Pudlak syndrome 5 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 HPS5 gene, producing melanosome defects and absence of platelet dense bodies. Individuals typically show oculocutaneous albinism (often mild) with visual impairment and a platelet‑type bleeding diathesis.
Definition from the Mondo Disease Ontology (MONDO:0013557), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
13 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.
- Absent platelet dense granulesHPOHP:0033263
- 3 of 3 reported patients
- Bruising susceptibilityHPOHP:0000978
- 4 of 4 reported patients
- Impaired ADP-induced platelet aggregationHPOHP:0004866
- 1 of 1 reported patient
- Iris transillumination defectHPOHP:0012805
- 4 of 4 reported patients
- Ocular albinismHPOHP:0001107
- 1 of 1 reported patient
- Prolonged bleeding timeHPOHP:0003010
- 1 of 1 reported patient
- Reduced visual acuityHPO
Show the remaining 1
- ThrombocytopeniaHPOHP:0001873
- 0 of 4 reported patients
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.
- HPS5HGNC:17022
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Hermansky-Pudlak syndrome 5
- Also called
- Hermansky-Pudlak syndrome caused by mutation in HPS5HPS5HPS5 Hermansky-Pudlak syndromeHPS5-related Hermansky-Pudlak syndrome