PLATELET SIGNAL PROCESSING DEFECT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 173590
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:0000421) Epistaxis 85 / 7739
2
(HPO:0008320) Impaired collagen-induced platelet aggregation 4 / 7739
3
(HPO:0008148) Impaired epinephrine-induced platelet aggregation 3 / 7739
4
(HPO:0001873) Thrombocytopenia 224 / 7739
5
(HPO:0004866) Impaired ADP-induced platelet aggregation 4 / 7739
6
(HPO:0001892) Abnormal bleeding 85 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Defective platelet aggregation responses to ADP, epinephrine, collagen, and cationophore A23187 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Holmsen et al. (1987) studied a family of Chinese ancestry with marked bleeding tendencies and found that aggregation responses to low concentrations of ADP, epinephrine, collagen, and cationophore A23187 in platelets were virtually absent. The platelets from the ...