Thrombocythemia 1

Preferred Label : Thrombocythemia 1;

Symbol : THCYT1;

CISMeF acronym : THCYT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytosis 1;

Description : Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998). - Genetic Heterogeneity of Thrombocythemia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the thrombopoietin gene (THPO, 600044.0001);

Laboratory abnormalities : Increased serum thrombopoietin may occur;

Prefixed ID : #187950;

Details

Origin ID

187950;

UMLS CUI

C3277671;

Automatic exact mappings (from CISMeF team)
- Familial thrombocytosis [ORDO Disease]
- THPO wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Acquired thrombocytosis [ICD-11 Subcategory]
- Essential Thrombocythemia [NCIt concept]
- Essential thrombocythaemia [MedDRA Preferred Term]
- Essential thrombocythemia [PASCAL descriptor]
- Essential thrombocythemia [ICD-O code]
- Essential thrombocythemia [ICD-11 Extension code]
- Essential thrombocythemia [ICD-9 code]
- Essential thrombocythemia [MedDRA LLT]
- Essential thrombocythemia [ORDO Disease]
- Essential thrombocythemia (disorder) [SNOMED CT concept]
- Essential thrombocythemia (morphologic abnormality) [SNOMED CT concept]
- Essential thrombocytosis [ICD-10 Sub-category (who)]
- Essential thrombocytosis [MedDRA LLT]
- essential thrombocythemia [DO Concept]
- essential thrombocytosis [Disease (Nov.)]
- thrombocythemia, essential [MeSH Descriptor]
- thrombocythemia, essential [MeSH concept]
DO Cross reference
- essential thrombocythemia [DO Concept]
Genes related to phenotype
- Calreticulin [OMIM gene]
- Sh2b adaptor protein 3 [OMIM gene]
- Thrombopoietin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Impaired ADP-induced platelet aggregation [HPO term]
- Impaired collagen-induced platelet aggregation [HPO term]
- Impaired epinephrine-induced platelet aggregation [HPO term]
- Mild splenomegaly [HPO term]
- Splenomegaly [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]

Keyword's position in hierarchy(ies) :

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