Bleeding Disorder, Platelet-Type, 15 (BDPLT15)

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Disease Ontology 12 DOID:0111053 OMIM 58 615193 MeSH 45 D001791 D006470

MedGen 43 C3554663 CN169278 SNOMED-CT via HPO 70 12441001 165475005 249366005 263681008 302215000 415116008 57241006 more UMLS 74 C3554663

OMIM : ⁵⁸ Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by Kunishima et al., 2013). (615193)

MalaCards based summary : Bleeding Disorder, Platelet-Type, 15, is also known as platelet-type bleeding disorder 15. An important gene associated with Bleeding Disorder, Platelet-Type, 15 is ACTN1 (Actinin Alpha 1). Related phenotypes are epistaxis and thrombocytopenia

Disease Ontology : ¹² An inherited blood coagulation disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has material basis in heterozygous mutation in the ACTN1 gene on chromosome 14q.

UniProtKB/Swiss-Prot : ⁷⁶ Bleeding disorder, platelet-type 15: An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities.

Clinical features from OMIM:

615193

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 15

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 15.