PLATELET AGGREGATION, SPONTANEOUS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 173400
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:0011869) Abnormal platelet function 12 / 7739
2
 (HPO:0004419) Recurrent thrombophlebitis 4 / 7739
3
 (HPO:0030403) Spontaneous platelet aggregation 1 / 7739
4
 (OMIM) Spontaneous platelet aggregation 1 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gabuzda and Szydlowski (1975) described a young female patient with recurrent phlebitis and spontaneous aggregation of her platelets when suspended in either her own plasma or that of another. Her mother, who had a myocardial infarction in her ...