Hermansky-Pudlak syndrome 2
Findings
No curated finding names Hermansky-Pudlak syndrome 2 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 variation in the AP3B1 gene that impairs the formation of lysosome‑related organelles, including melanosomes and platelet dense granules. It presents with oculocutaneous albinism and a platelet‑type bleeding diathesis from dense‑granule deficiency. A distinguishing feature is immunodeficiency with neutropenia and recurrent infections; pulmonary complications can occur.
Definition from the Mondo Disease Ontology (MONDO:0011997), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
41 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 natural killer cell physiologyHPOHP:0012177
- 1 of 1 reported patient
- Absent platelet dense granulesHPOHP:0033263
- 1 of 1 reported patient
- Acetabular dysplasiaHPOHP:0008807
- 1 of 1 reported patient
- AlbinismHPOHP:0001022
- 1 of 1 reported patient
- Carious teethHPOHP:0000670
- 2 of 2 reported patients
- Coarse facial featuresHPOHP:0000280
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.
- AP3B1HGNC:566
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: Hermansky-Pudlak syndrome 2
- Also called
- AP3B1 Hermansky-Pudlak syndromeAP3B1-related Hermansky-Pudlak syndromeHermansky Pudlak syndrome 2Hermansky-Pudlak syndrome caused by mutation in AP3B1Hermansky-Pudlak syndrome type 2HPS-2HPS2