Hermansky-Pudlak syndrome 10
Findings
No curated finding names Hermansky-Pudlak syndrome 10 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 AP3D1 gene disrupts AP‑3–dependent trafficking to lysosome‑related organelles, including melanosomes and platelet dense granules. Alongside oculocutaneous albinism and a platelet‑type bleeding diathesis, affected individuals develop early‑onset immunodeficiency and severe neurologic impairment (e.g., profound developmental delay and refractory seizures). Additional findings can include interstitial lung disease and hepatosplenomegaly.
Definition from the Mondo Disease Ontology (MONDO:0014885), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
27 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 pulmonary interstitial morphologyHPOHP:0006530
- 1 of 1 reported patient
- AlbinismHPOHP:0001022
- 1 of 1 reported patient
- ApneaHPOHP:0002104
- 1 of 1 reported patient · Neonatal onset
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient · Infantile onset
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient · Childhood onset
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Decreased total neutrophil count
Show the remaining 15
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HypotelorismHPOHP:0000601
- 1 of 1 reported patient · Congenital onset
- ImmunodeficiencyHPOHP:0002721
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient · Congenital onset
- MacrotiaHPOHP:0000400
- 1 of 1 reported patient · Congenital onset
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.
- AP3D1HGNC:568
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · ClinGen · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of
Other names
4 names
Resolves to: Hermansky-Pudlak syndrome 10
- Also called
- AP3D1 Hermansky-Pudlak syndromeAP3D1-related Hermansky-Pudlak syndromeHermansky-Pudlak syndrome type 10HPS10