Hermansky-Pudlak syndrome 9
Findings
No curated finding names Hermansky-Pudlak syndrome 9 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 BLOC1S6 gene, resulting in defective melanosomes and absence of platelet dense granules. The phenotype includes oculocutaneous/ocular albinism with nystagmus and reduced visual acuity and a bleeding tendency. Distinguishing features can include leukopenia with recurrent infections and thrombocytopenia in some patients.
Definition from the Mondo Disease Ontology (MONDO:0013606), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Decreased total leukocyte countHPOHP:0001882
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient · Congenital onset
- Ocular albinismHPOHP:0001107
- 1 of 1 reported patient
- Recurrent skin infectionsHPOHP:0001581
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
- 1 of 1 reported patient
- Abnormal platelet aggregationHPOHP:0030402
- 0 of 1 reported patient
- Global developmental delayHPO
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.
- BLOC1S6HGNC:8549
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Hermansky-Pudlak syndrome 9
- Also called
- BLOC1S6 Hermansky-Pudlak syndromeBLOC1S6-related Hermansky-Pudlak syndromeHermansky-Pudlak syndrome caused by mutation in BLOC1S6HPS9