THROMBOCYTHEMIA 3

General Information (adopted from Orphanet):

Synonyms, Signs: THROMBOCYTOSIS 3
THCYT3
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614521
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:0001894) Thrombocytosis 16 / 7739
2
(OMIM) Increased megakaryocytes in bone marrow 2 / 7739
3
(OMIM) Thrombocythemia 3 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Myocardial infarction, increased risk of 1 / 7739
6
(HPO:0001428) Somatic mutation 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., ...
Clinical Description OMIM Mead et al. (2012) reported a 3-generation family with autosomal dominant inheritance of thrombocythemia. The proband presented at age 53 years with an ischemic cerebrovascular event associated with long-standing thrombocytosis (700 x 10(9) to 970 x 10(9)). There ...
Molecular genetics OMIM - Germline Mutation in the JAK2 Gene

In affected members of a family with thrombocythemia, Mead et al. (2012) identified a germline heterozygous gain-of-function mutation in the JAK2 gene (V617I; 147796.0004). Examination of peripheral blood cells ...