Hermansky-Pudlak syndrome type 8

General Information (adopted from Orphanet):

Synonyms, Signs: HPS8
Number of Symptoms 5
OrphanetNr: 231537
OMIM Id: 614077
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:0001107) Ocular albinism 40 / 7739
2
(HPO:0000505) Visual impairment 297 / 7739
3
(HPO:0001022) Albinism 43 / 7739
4
(HPO:0000978) Bruising susceptibility 123 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Morgan et al. (2006) described a large consanguineous Pakistani family in which affected individuals displayed features of incomplete oculocutaneous albinism and platelet dysfunction. Skin biopsy demonstrated abnormal aggregates of melanosomes within basal epidermal keratinocytes. The proband was born ...
Molecular genetics OMIM Morgan et al. (2006) noted that the human homolog of the mouse 'reduced pigmentation' (rp) gene, BLOC1S3 (609762), mapped to the target interval identified in a consanguineous Pakistani family with HPS. They identified a homozygous frameshift mutation in ...