Hermansky-Pudlak syndrome 8
Findings
No curated finding names Hermansky-Pudlak syndrome 8 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 BLOC1S3 gene that impairs melanosomes and platelet dense‑granule formation. Individuals show generalized hypopigmentation with visual impairment (nystagmus, foveal hypoplasia, optic pathway misrouting) and a platelet‑type bleeding diathesis. The severity of bleeding is variable across reported cases.
Definition from the Mondo Disease Ontology (MONDO:0013560), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 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.
- AlbinismHPOHP:0001022
- 6 of 6 reported patients
- Impaired platelet aggregationHPOHP:0003540
- 2 of 2 reported patients
- Ocular albinismHPOHP:0001107
- 6 of 6 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- Hypoplasia of the foveaHPOHP:0007750
- 5 of 6 reported patients
- Pendular nystagmusHPOHP:0012043
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.
- BLOC1S3HGNC:20914
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Hermansky-Pudlak syndrome 8
- Also called
- BLOC1S3 Hermansky-Pudlak syndromeBLOC1S3-related Hermansky-Pudlak syndromeHermansky-Pudlak syndrome caused by mutation in BLOC1S3HPS8