Hermansky-Pudlak syndrome type 7

General Information (adopted from Orphanet):

Synonyms, Signs: HPS7
Number of Symptoms 9
OrphanetNr: 231531
OMIM Id: 614076
ICD-10: E70.3
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: Hermansky-Pudlak syndrome
 -Rare eye disease
 -Rare genetic disease
 -Rare hematologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000421) Epistaxis 85 / 7739
2
(HPO:0007663) Reduced visual acuity 100 / 7739
3
(HPO:0001107) Ocular albinism 40 / 7739
4
(HPO:0000639) Nystagmus 555 / 7739
5
(HPO:0000505) Visual impairment 297 / 7739
6
(HPO:0001022) Albinism 43 / 7739
7
(HPO:0000978) Bruising susceptibility 123 / 7739
8
(HPO:0003540) Impaired platelet aggregation 17 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Li et al. (2003) identified a 48-year-old Portuguese woman in which Hermansky-Pudlak syndrome was caused by mutation in the DTNBP1 gene (HPS7). She exhibited oculocutaneous albinism, ease of bruising, and a bleeding tendency. Bleeding time was 13 minutes, ...
Molecular genetics OMIM Li et al. (2003) showed that mutation in the dysbindin gene, Dtnbp1, causes the sdy phenotype and that mutation in the DTNBP1 gene causes human HPS7. Li et al. (2003) identified homozygosity for a nonsense mutation in the ...