Thrombocythemia 3

Preferred Label : Thrombocythemia 3;

Symbol : THCYT3;

CISMeF acronym : THCYT3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytosis 3;

Description : 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., 2012). For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (187950).;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Caused by mutation in the janus kinase 2 gene (JAK2, 147796.0001);

Prefixed ID : #614521;

Details

Origin ID

614521;

UMLS CUI

C3281125;

Automatic exact mappings (from CISMeF team)
- Familial thrombocytosis [ORDO Disease]
- JAK2 wt Allele [NCIt concept]
DO Cross reference
- essential thrombocythemia [DO Concept]
Genes related to phenotype
- Janus kinase 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Increased micromegakaryocyte count [HPO term]
- Ischemic stroke [HPO term]
- Somatic mutation [HPO term]
- Thrombocytosis [HPO term]
ORDO concept(s)
- Essential thrombocythemia [ORDO Disease]
- Familial thrombocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Essential thrombocythemia [ORDO Disease]

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