Hermansky-Pudlak syndrome 6
Findings
No curated finding names Hermansky-Pudlak syndrome 6 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 HPS6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013558), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
33 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
- 3 of 3 reported patients
- AmblyopiaHPOHP:0000646
- 2 of 2 reported patients
- EcchymosisHPOHP:0031364
- 2 of 2 reported patients
- Impaired ADP-induced platelet aggregationHPOHP:0004866
- 1 of 1 reported patient
- Impaired arachidonic acid-induced platelet aggregationHPOHP:0011870
- 1 of 1 reported patient
- Impaired collagen-induced platelet aggregationHPOHP:0008320
- 1 of 1 reported patient
- PhotophobiaHPO
Show the remaining 21
- EpistaxisHPOHP:0000421
- 2 of 4 reported patients
- Horizontal nystagmusHPOHP:0000666
- 2 of 4 reported patients
- Hypopigmentation of the skinHPOHP:0001010
- 1 of 2 reported patients
- NystagmusHPOHP:0000639
- 3 of 6 reported patients
- Absent foveal reflexHPOHP:0030825
- 1 of 4 reported patients
- Anal atresiaHPOHP:0002023
- 1 of 4 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.
- HPS6HGNC:18817
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: Hermansky-Pudlak syndrome 6
- Also called
- Hermansky-Pudlak syndrome caused by mutation in HPS6Hermansky-Pudlak syndrome type 6HPS6 Hermansky-Pudlak syndrome