PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr:
OMIM Id: 173580
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:0008148) Impaired epinephrine-induced platelet aggregation 3 / 7739
2
(OMIM) No bleeding disorder 1 / 7739
3
(OMIM) Defective platelet aggregation in response to adrenaline 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Platelets of humans, as well as of other primates and some cats, aggregate in response to adrenaline. Scrutton et al. (1981) observed decreased responsiveness to adrenaline in platelets from 5 apparently normal, unrelated human subjects. In 4 of ...