Hermansky-Pudlak syndrome 7
Findings
No curated finding names Hermansky-Pudlak syndrome 7 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 DTNBP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013559), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Bruising susceptibilityHPOHP:0000978
- 1 of 1 reported patient
- EpistaxisHPOHP:0000421
- 1 of 1 reported patient
- Impaired platelet aggregationHPOHP:0003540
- 2 of 2 reported patients
- MenorrhagiaHPOHP:0000132
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Ocular albinismHPOHP:0001107
- 1 of 1 reported patient
- Persistent bleeding after traumaHPOHP:0001934
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.
- DTNBP1HGNC:17328
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Hermansky-Pudlak syndrome 7
- Also called
- DTNBP1 Hermansky-Pudlak syndromeHermansky-Pudlak syndrome caused by mutation in DTNBP1Hermansky-Pudlak syndrome type 7HPS7