Details of Disease | DrugMAP

General Information of Disease (ID: DISZU4YT)

Disease Name	Platelet-type bleeding disorder 11
Synonyms	bleeding disorder, platelet-type, 11; GP 6 deficiency; bleeding diathesis due to glycoprotein VI deficiency; platelet-type bleeding disorder-11; glycoprotein 6 deficiency; BDPLT11; glycoprotein VI deficiency; platelet-type bleeding disorder 11; GP VI deficiency; inherited bleeding disorder, platelet-type caused by mutation in GP6; GP6 inherited bleeding disorder, platelet-type
Definition	Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.
Disease Hierarchy	DISIUNXT: Inherited bleeding disorder, platelet-type DISZU4YT: Platelet-type bleeding disorder 11
Disease Identifiers	MONDO ID MONDO_0013623 UMLS CUI C3280120 OMIM ID 614201 MedGen ID 481750 Orphanet ID 98885 SNOMED CT ID 765977002

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
GP6	TTTJUVZ	Definitive	Autosomal recessive	[1]
GP6	TTTJUVZ	Definitive	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GP6	OT4IE8DV	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families.J Thromb Haemost. 2013 Sep;11(9):1751-9. doi: 10.1111/jth.12334.