HERMANSKY-PUDLAK SYNDROME 6

General Information (adopted from Orphanet):

Synonyms, Signs: HPS6
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614075
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000421) Epistaxis 85 / 7739
2
(HPO:0001107) Ocular albinism 40 / 7739
3
(HPO:0001022) Albinism 43 / 7739
4
(HPO:0004866) Impaired ADP-induced platelet aggregation 4 / 7739
5
(HPO:0011883) Abnormal platelet granules 3 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zhang et al. (2003) described a 39-year-old Belgian woman with Hermansky-Pudlak syndrome-6. She had oculocutaneous albinism and frequent prolonged nosebleeds, as well as prolonged bleeding after dental extractions and surgery. She had no pulmonary or gastrointestinal symptoms. Her ...
Molecular genetics OMIM In a 39-year-old Belgian woman with HPS, Zhang et al. (2003) identified a homozygous 4-bp deletion (607522.0001) in the HPS6 gene.

Huizing et al. (2009) identified homozygous or compound heterozygous mutations (607522.0003-607522.0007) in the HPS6 gene ...