Hermansky-Pudlak syndrome 1
Findings
No curated finding names Hermansky-Pudlak syndrome 1 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 HPS1 gene, causing defects of melanosomes and absence of platelet dense bodies. Core features include oculocutaneous albinism with nystagmus and reduced visual acuity, and a platelet‑type bleeding diathesis. Some individuals develop pulmonary fibrosis and/or granulomatous colitis.
Definition from the Mondo Disease Ontology (MONDO:0008748), read 2026-09-29. CC BY 4.0.
Features
6 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.
- Bruising susceptibilityHPOHP:0000978
- 3 of 3 reported patients
- EcchymosisHPOHP:0031364
- 3 of 3 reported patients
- Hypopigmentation of hairHPOHP:0005599
- 3 of 3 reported patients
- Hypopigmentation of the skinHPOHP:0001010
- 3 of 3 reported patients
- NystagmusHPOHP:0000639
- 3 of 3 reported patients
- PhotophobiaHPOHP:0000613
- 3 of 3 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.
- HPS1HGNC:5163
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: Hermansky-Pudlak syndrome 1
- Also called
- albinism with hemorrhagic diathesis and pigmenteddelta storage pool diseaseHermansky-Pudlak syndrome caused by mutation in HPS1HPS1HPS1 Hermansky-Pudlak syndromeHPS1-related Hermansky-Pudlak syndromereticuloendothelial cells