Bleeding disorder, platelet-type, 13, susceptibility to

Preferred Label : Bleeding disorder, platelet-type, 13, susceptibility to;

Symbol : BDPLT13;

CISMeF acronym : BDPLT13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bleeding disorder, susceptibility to, due to defective platelet thromboxane a2 receptor;

Description : Susceptibility to platelet-type bleeding disorder-13 is due to a defective thromboxane A2 receptor on platelets. The susceptibility is inherited in an autosomal dominant pattern, but clinical features, including mild mucocutaneous bleeding, occur only in the presence of a 'second hit' affecting platelet function; this second hit may be either in the TBXA2R gene or in another gene affecting the coagulation cascade (summary by Mumford et al., 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the platelet thromboxane A2 receptor gene (TBXA2R, 188070.0001);

Prefixed ID : #614009;

Details

Origin ID

614009;

UMLS CUI

C3279614;

Currated CISMeF NLP mapping
- Bleeding diathesis due to thromboxane synthesis deficiency [ORDO Disease]
- Bleeding diathesis due to thromboxane synthesis deficiency [ICD-11 Subcategory]
- Bleeding diathesis due to thromboxane synthesis deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Thromboxane a2 receptor, platelet [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Ecchymosis [HPO term]
- Epistaxis [HPO term]
- Impaired thromboxane A2 agonist-induced platelet aggregation [HPO term]
Not associated HPO term(s)
- Abnormal platelet count [HPO term]
ORDO concept(s)
- Bleeding diathesis due to thromboxane synthesis deficiency [ORDO Disease]
See also inter- (CISMeF)
- TBXA2R wt Allele [NCIt concept]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Bleeding diathesis due to thromboxane synthesis deficiency [ORDO Disease]

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