PRIMARY RELEASE DISORDER OF PLATELETS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 176630
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004406) Spontaneous, recurrent epistaxis 7 / 7739
2
(HPO:0000132) Menorrhagia 40 / 7739
3
(HPO:0000978) Bruising susceptibility 123 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Bleeding disorder 2 / 7739
6
(OMIM) Low platelet membrane sialyltransferase activity 1 / 7739
7
(OMIM) Primary release defect of platelets 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wu et al. (1981) studied a 3-generation family in which many members had a bleeding disorder due to a primary release defect of platelets. The hereditary defect resembles the acquired one produced by aspirin. Patients were all females ...