INTEGRIN, BETA-3
General Information (adopted from Orphanet):
Synonyms, Signs: |
|
Number of Symptoms | 13 |
OrphanetNr: | |
OMIM Id: |
173470
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
|
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0000132) | Menorrhagia | 40 / 7739 | ||||
|
(HPO:0000421) | Epistaxis | 85 / 7739 | ||||
|
(HPO:0000225) | Gingival bleeding | 28 / 7739 | ||||
|
(HPO:0002239) | Gastrointestinal hemorrhage | 97 / 7739 | ||||
|
(HPO:0000979) | Purpura | 27 / 7739 | ||||
|
(HPO:0000978) | Bruising susceptibility | 123 / 7739 | ||||
|
(HPO:0002170) | Intracranial hemorrhage | 40 / 7739 | ||||
|
(HPO:0004813) | Post-transfusion thrombocytopenia | 1 / 7739 | ||||
|
(HPO:0004809) | Neonatal alloimmune thrombocytopenia | 1 / 7739 | ||||
|
(HPO:0003540) | Impaired platelet aggregation | 17 / 7739 | ||||
|
(HPO:0001975) | Decreased platelet glycoprotein IIb-IIIa | 2 / 7739 | ||||
|
(HPO:0001928) | Abnormality of coagulation | 44 / 7739 | ||||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|