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Bleeding disorder, platelet-type, 8; BDPLT8

Disease ID:760
Name:Bleeding disorder, platelet-type, 8; BDPLT8
Associated with:1 target
Synonyms
P2Y12 defect
Database Links
OMIM: 609821
Orphanet: ORPHA36355

Targets

P2Y12 receptor
Comments:  In a patient with congenital bleeding, heterozygosity for 2 mutations in the P2Y12 gene was found. Analysis of the patient's P2Y12 gene revealed a G-to-A transition in one allele, changing the codon for Arg-256 in the sixth transmembrane domain to Gln, and a C-to-T transition in the other allele, changing the codon for Arg-265 in the third extracellular loop to Trp. These patients generally have normal shape change responses to ADP but have impaired abilities to inhibit adenylate cyclase activity.
References:  1-2
Mutations:  P2Y12 receptor is associated with 6 mutation. Click here for details

Ligands

No ligand related data available for Bleeding disorder, platelet-type, 8; BDPLT8

References

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1. Cattaneo M, Lecchi A, Randi AM, McGregor JL, Mannucci PM. (1992) Identification of a new congenital defect of platelet function characterized by severe impairment of platelet responses to adenosine diphosphate. Blood, 80 (11): 2787-96. [PMID:1333302]

2. Cattaneo M, Zighetti ML, Lombardi R, Martinez C, Lecchi A, Conley PB, Ware J, Ruggeri ZM. (2003) Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. Proc Natl Acad Sci U S A, 100: 1978-1983. [PMID:12578987]

3. Cunningham MR, Nisar SP, Cooke AE, Emery ED, Mundell SJ. (2013) Differential endosomal sorting of a novel P2Y12 purinoreceptor mutant. Traffic, 14 (5): 585-98. [PMID:23387322]

4. Daly ME, Dawood BB, Lester WA, Peake IR, Rodeghiero F, Goodeve AC, Makris M, Wilde JT, Mumford AD, Watson SP et al.. (2009) Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study. Blood, 113 (17): 4110-3. [PMID:19237732]

5. Patel YM, Lordkipanidz√© M, Lowe GC, Nisar SP, Garner K, Stockley J, Daly ME, Mitchell M, Watson SP, Austin SK et al.. (2014) A novel mutation in the P2Y12 receptor and a function-reducing polymorphism in protease-activated receptor 1 in a patient with chronic bleeding. J. Thromb. Haemost., 12 (5): 716-25. [PMID:24612435]

6. Shiraga M, Miyata S, Kato H, Kashiwagi H, Honda S, Kurata Y, Tomiyama Y, Kanakura Y. (2005) Impaired platelet function in a patient with P2Y12 deficiency caused by a mutation in the translation initiation codon. J. Thromb. Haemost., 3 (10): 2315-23. [PMID:16194207]