Hermansky-Pudlak syndrome 11
Findings
No curated finding names Hermansky-Pudlak syndrome 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Hermansky-Pudlak syndrome caused by biallelic variants in the BLOC1S5 gene, resulting in melanosome defects and absence of platelet dense granules, and characterized by mild oculocutaneous albinism with reduced visual acuity and a moderate platelet-type bleeding diathesis with impaired platelet aggregation and ATP release. Reported cases to date suggest a relatively mild systemic course compared with other subtypes.
Definition from the Mondo Disease Ontology (MONDO:0030903), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 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
- 2 of 2 reported patients
- EpistaxisHPOHP:0000421
- 2 of 2 reported patients
- Fair hairHPOHP:0002286
- 2 of 2 reported patients
- Impaired collagen-induced platelet aggregationHPOHP:0008320
- 2 of 2 reported patients
- Iris transillumination defectHPOHP:0012805
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Ocular albinismHPOHP:0001107
Show the remaining 4
- Melanocytic nevusHPOHP:0000995
- 1 of 2 reported patients
- MenorrhagiaHPOHP:0000132
- 1 of 2 reported patients
- PhotophobiaHPOHP:0000613
- 1 of 2 reported patients
- StrabismusHPOHP:0000486
- 1 of 2 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.
- BLOC1S5HGNC:18561
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: Hermansky-Pudlak syndrome 11
- Also called
- BLOC1S5-related Hermansky-Pudlak syndromeHPS11