Bleeding disorder, platelet-type, 13, susceptibility to(BDPLT13)

MedGen UID:: 481244
•Concept ID:: C3279614
•: Finding

Synonyms:	BDPLT13; BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR

Gene (location): Gene(s) directly associated with this condition or phenotype.	TBXA2R (19p13.3)

Monarch Initiative:	MONDO:0800447
OMIM®:	614009
Orphanet:	ORPHA220443

Definition

Susceptibility to platelet-type bleeding disorder-13 (BDPLT13) 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). [from OMIM]

Clinical features

From HPO

Epistaxis

MedGen UID:: 4996
•Concept ID:: C0014591
•: Pathologic Function

Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.

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Abnormal platelet count

MedGen UID:: 488925
•Concept ID:: C0580317
•: Finding

Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.

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Impaired thromboxane A2 agonist-induced platelet aggregation

MedGen UID:: 868736
•Concept ID:: C4023141
•: Finding

Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.

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Impaired arachidonic acid-induced platelet aggregation

MedGen UID:: 868750
•Concept ID:: C4023155
•: Pathologic Function

Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.

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Ecchymosis

MedGen UID:: 8524
•Concept ID:: C0013491
•: Finding

A purpuric lesion that is larger than 1 cm in diameter.

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Bruising susceptibility

MedGen UID:: 140849
•Concept ID:: C0423798
•: Finding

An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

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