General Information of Disease (ID: DISUF258)

Disease Name Bleeding disorder, platelet-type, 24
Synonyms bleeding disorder, platelet-type, 24; Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2; BDPLT24; bleeding disorder, platelet-type, 24, autosomal dominant
Disease Hierarchy
DISIUNXT: Inherited bleeding disorder, platelet-type
DISUF258: Bleeding disorder, platelet-type, 24
Disease Identifiers
MONDO ID
MONDO_0030996
UMLS CUI
C5543280
OMIM ID
619271
MedGen ID
1785711

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ITGB3 TTJA1ZO Strong Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ITGB3 OTWCK1K6 Strong Autosomal dominant [1]
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References

1 Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. Haematologica. 2009 May;94(5):663-9. doi: 10.3324/haematol.2008.002246. Epub 2009 Mar 31.