Details of Disease

General Information of Disease (ID: DISFGCJT)

Disease Name Platelet-type bleeding disorder 9
Synonyms
bleeding diathesis due to integrin alpha2-beta1 deficiency; bleeding disorder, platelet-type, 9; collagen platelet receptor deficiency; ITGA2 inherited bleeding disorder, platelet-type; BDPLT9; GP Ia deficiency; inherited bleeding disorder, platelet-type caused by mutation in ITGA2; glycoprotein Ia deficiency
Definition Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.
Disease Hierarchy
DISIUNXT: Inherited bleeding disorder, platelet-type
DISFGCJT: Platelet-type bleeding disorder 9
Disease Identifiers
MONDO ID
MONDO_0013622
MESH ID
C566000
UMLS CUI
C3280114
OMIM ID
614200
MedGen ID
481744
Orphanet ID
98886

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ITGA2 TTSJ542 Limited Biomarker [1]
ITGA2 TTSJ542 Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ITGA2 OTPFL017 Strong Autosomal dominant [2]
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References

1 A point mutation Thr(799)Met on the alpha(2) integrin leads to the formation of new human platelet alloantigen Sit(a) and affects collagen-induced aggregation.Blood. 1999 Dec 15;94(12):4103-11.
2 The new platelet alloantigen Cab a: a single point mutation Gln 716 His on the alpha 2 integrin. Transfusion. 2009 Oct;49(10):2076-83. doi: 10.1111/j.1537-2995.2009.02240.x. Epub 2009 Jun 4.