Details of Disease

General Information of Disease (ID: DISNE5DD)

Disease Name Platelet-type bleeding disorder 20
Synonyms
bleeding disorder, platelet-type, 20; BDPLT20; inherited bleeding disorder, platelet-type caused by mutation in SLFN14; SLFN14 inherited bleeding disorder, platelet-type; autosomal dominant thrombocytopenia with platelet secretion defect
Definition Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.
Disease Hierarchy
DISIUNXT: Inherited bleeding disorder, platelet-type
DISNE5DD: Platelet-type bleeding disorder 20
Disease Identifiers
MONDO ID
MONDO_0014830
UMLS CUI
C4310797
OMIM ID
616913
MedGen ID
934764
Orphanet ID
466806

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLFN14 OTMB4Y3R Strong Autosomal dominant [1]
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References

1 SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. J Clin Invest. 2015 Sep;125(9):3600-5. doi: 10.1172/JCI80347. Epub 2015 Aug 17.