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Metadata
DOID DOID:0060691
Name platelet-type bleeding disorder 16
Definition An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
https://www.ncbi.nlm.nih.gov/pubmed/18065693, https://www.ncbi.nlm.nih.gov/pubmed/21454453, https://www.ncbi.nlm.nih.gov/pubmed/9834222
Synonyms

autosomal dominant Glanzmann thrombasthenia [EXACT]

autosomal dominant thrombasthenia of Glanzmann and Naegeli [EXACT]

Xrefs

ICD10CM:D69.4

OMIM:187800

ORDO:140957

Relationships

is_a inherited blood coagulation disease

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