Bleeding disorder, platelet-type, 8; BDPLT8
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 760 | |
| Name: | Bleeding disorder, platelet-type, 8; BDPLT8 | |
| Associated with: | 1 target | |
Targets
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| 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
GtoPdb Disease Summaries - Ligands
Click ligand name to view ligand summary page
- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Bleeding disorder, platelet-type, 8; BDPLT8
References
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 USA, 100 (4): 1978-83. [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, Lordkipanidzé 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]
