Thrombocytopenia 2

Preferred Label : Thrombocytopenia 2;

Symbol : THC2;

CISMeF acronym : THC2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytopenia, autosomal dominant, 2;

Description : Thrombocytopenia-2 is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by Pippucci et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ankyrin repeat domain-containing protein 26 gene (ANKRD26, 610855.0001); Caused by mutation in the microtubule-associated serine/threonine kinase-like gene (MASTL, 608221.0001);

Prefixed ID : #188000;

Details

Origin ID

188000;

UMLS CUI

C1861185;

Automatic exact mappings (from CISMeF team)
- ANKRD26 wt Allele [NCIt concept]
- Autosomal thrombocytopenia with normal platelets [ORDO Disease]
- microtubule associated serine/threonine kinase like [ORDO Gene]
- microtubule associated serine/threonine kinase like [HGNC gene]
- symbol withdrawn THC2 [HGNC gene]
Currated CISMeF NLP mapping
- Thrombocytopenia 2 [NCIt concept]
- Thrombocytopenia chromosome breakage [MeSH concept]
- thrombocytopenia chromosome breakage [MeSH Supplementary Concept]
DO Cross reference
- thrombocytopenia [DO Concept]
Genes related to phenotype
- Ankyrin repeat domain-containing protein 26 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Increased megakaryocyte colony forming unit count [HPO term]
- Leukocytosis [HPO term]
- Mild-moderate bruisability [HPO term]
- Thrombocytopenia [HPO term]
Not associated HPO term(s)
- Abnormal platelet shape [HPO term]
- Abnormal platelet volume [HPO term]
ORDO concept(s)
- Autosomal thrombocytopenia with normal platelets [ORDO Disease]
- Hereditary thrombocytopenia with normal platelets [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thrombocytopenia 2 [NCIt concept]
- Thrombocytopenia chromosome breakage [MeSH concept]
- thrombocytopenia chromosome breakage [MeSH Supplementary Concept]

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