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platelet-type bleeding disorder 19

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.
Uniprot Description A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia.
Disease Ontology Description An inherited blood coagulation disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has material basis in homozygous mutation in the PRKACG gene on chromosome 9q21.
Mondo Term and Equivalent IDs
MONDO:0014518:  platelet-type bleeding disorder 19
Orphanet:438207: 
UMLS:C4015405: