Details of Disease | DrugMAP

General Information of Disease (ID: DISMMCRF)

Disease Name	Platelet-type bleeding disorder 8
Synonyms	bleeding disorder, platelet-type 8; bleeding disorder due to P2Ry12 defect; BDPLT8; bleeding disorder, platelet-type, 8; bleeding disorder due to P2Rx1 defect, somatic; platelet-type bleeding disorder 8; P2Y12 defect; ADP platelet receptor P2Y12 defect
Definition	P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.
Disease Hierarchy	DIS1DL2M: Inherited blood coagulation disorder DISIUNXT: Inherited bleeding disorder, platelet-type DISMMCRF: Platelet-type bleeding disorder 8
Disease Identifiers	MONDO ID MONDO_0012354 MESH ID C565220 UMLS CUI C1853278 OMIM ID 609821 MedGen ID 344008 Orphanet ID 36355

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
P2RY12	TTZ1DT0	Limited	Genetic Variation	[1]
P2RY12	TTZ1DT0	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
P2RY12	OTX2W0WD	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis.Blood. 2015 Feb 5;125(6):1006-13. doi: 10.1182/blood-2013-07-517896. Epub 2014 Nov 26.
2	Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1978-83. doi: 10.1073/pnas.0437879100. Epub 2003 Feb 10.