ATHROMBIA, ESSENTIAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 209050
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:0008352) Impaired platelet adhesion 1 / 7739
2
 (HPO:0003010) Prolonged bleeding time 88 / 7739
3
 (HPO:0003540) Impaired platelet aggregation 17 / 7739
4
 (HPO:0001892) Abnormal bleeding 85 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
 (OMIM) Platelet factor 3 availability normal 1 / 7739
7
 (OMIM) Platelet adhesion and aggregation decreased 1 / 7739
8
 (MedDRA:10009673) Clot retraction normal 1 / 7739
9
 (MedDRA:10035530) Platelet count normal 9 / 7739
10
 (OMIM) Plasma clotting time normal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: