Platelet-type bleeding disorder 19(BDPLT19)

MedGen UID:: 863842
•Concept ID:: C4015405
•: Disease or Syndrome

Synonym:	BDPLT19
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	PRKACG (9q21.11)

Monarch Initiative:	MONDO:0014518
OMIM®:	616176
Orphanet:	ORPHA438207

Definition

A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia. [from ORDO]

Clinical features

From HPO

Anemia

MedGen UID:: 1526
•Concept ID:: C0002871
•: Disease or Syndrome

A reduction in erythrocytes volume or hemoglobin concentration.

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Epistaxis

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

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

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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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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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Macrothrombocytopenia