PLATELET PROSTACYCLIN RECEPTOR DEFECT

General Information (adopted from Orphanet):

Synonyms, Signs: VIENNA-HIETZING DEFECT
Number of Symptoms 6
OrphanetNr:
OMIM Id: 262875
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004417) Intermittent claudication 10 / 7739
2
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Marked diminution in sensitivity of platelets to prostacyclin 1 / 7739
5
(OMIM) Popliteal artery occlusion 1 / 7739
6
(OMIM) Platelet prostacyclin receptor defect 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: