Bleeding disorder, platelet-type, 24(BDPLT24)

MedGen UID:: 1785711
•Concept ID:: C5543280
•: Disease or Syndrome

Synonym:	GLANZMANN THROMBASTHENIA-LIKE WITH MACROTHROMBOCYTOPENIA 2

Gene (location): Gene(s) directly associated with this condition or phenotype.	ITGB3 (17q21.32)

Monarch Initiative:	MONDO:0030996
OMIM®:	619271

Definition

Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). For a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see 187800. [from OMIM]

Clinical features

From HPO

Menorrhagia

MedGen UID:: 44358
•Concept ID:: C0025323
•: Pathologic Function

Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.

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Thrombocytopenia

MedGen UID:: 52737
•Concept ID:: C0040034
•: Disease or Syndrome

A reduction in the number of circulating thrombocytes.

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Increased mean platelet volume

MedGen UID:: 853131
•Concept ID:: C1096367
•: Finding

Average platelet volume above the upper limit of the normal reference interval.

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Abnormal bleeding

MedGen UID:: 264316
•Concept ID:: C1458140
•: Pathologic Function

An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.

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Platelet anisocytosis

MedGen UID:: 810926
•Concept ID:: C1739105
•: Pathologic Function

Abnormally increased variability in the size of platelets.

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Impaired ristocetin-induced platelet aggregation

MedGen UID:: 868749
•Concept ID:: C4023154
•: Pathologic Function

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

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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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Impaired collagen-induced platelet aggregation

MedGen UID:: 870264
•Concept ID:: C4024703
•: Finding

Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.

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Impaired epinephrine-induced platelet aggregation