Hermansky-Pudlak syndrome 3
Findings
No curated finding names Hermansky-Pudlak syndrome 3 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 HPS3 gene. Affected individuals have mild oculocutaneous/ocular hypopigmentation with nystagmus and reduced visual acuity, and a generally mild bleeding diathesis. Compared with other forms, systemic complications (e.g., pulmonary fibrosis or colitis) are uncommon and the overall phenotype is milder.
Definition from the Mondo Disease Ontology (MONDO:0013555), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
15 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
- 11 of 11 reported patients
- AlbinismHPOHP:0001022
- 1 of 1 reported patient
- Bruising susceptibilityHPOHP:0000978
- 1 of 1 reported patient
- Congenital nystagmusHPOHP:0006934
- 1 of 1 reported patient
- EsotropiaHPOHP:0000565
- 1 of 1 reported patient
- Gingival bleedingHPOHP:0000225
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.
- HPS3HGNC:15597
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2024
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Hermansky-Pudlak syndrome 3
- Also called
- Hermansky-Pudlak syndrome caused by mutation in HPS3HPS3HPS3 Hermansky-Pudlak syndromeHPS3-related Hermansky-Pudlak syndrome