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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 1129 | |
Name: | Familial amyloid cardiomyopathy | |
Associated with: | 1 target |
Synonyms |
Transthyretin amyloid cardiopathy | Transthyretin amyloidosis | Transthyretin-related familial amyloid cardiomyopathy | TTR-related cardiac amyloidosis |
Description |
Familial amyloid cardiomyopathy (FAP) is a degenerative disease caused by the formation of transthyretin (TTR) amyloidogenic fibrils in the heart. |
Database Links |
Disease Ontology:
DOID:0050638 OMIM: 105210 Orphanet: ORPHA85451 |
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.
✖transthyretin | |
Drugs: | Tafamidis |
References: | 2 |
Mutations: | transthyretin is associated with 2 mutation. Click here for details |
Click ligand name to view ligand summary page
Click the arrow in the final column to expand comments
More information can be found in the help pages.
✖No ligand related data available for Familial amyloid cardiomyopathy
1. Benson MD. (1991) Inherited amyloidosis. J Med Genet, 28 (2): 73-8. [PMID:1848299]
2. Bulawa CE, Connelly S, Devit M, Wang L, Weigel C, Fleming JA, Packman J, Powers ET, Wiseman RL, Foss TR et al.. (2012) Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proc Natl Acad Sci USA, 109 (24): 9629-34. [PMID:22645360]
3. Penchala SC, Connelly S, Wang Y, Park MS, Zhao L, Baranczak A, Rappley I, Vogel H, Liedtke M, Witteles RM et al.. (2013) AG10 inhibits amyloidogenesis and cellular toxicity of the familial amyloid cardiomyopathy-associated V122I transthyretin. Proc Natl Acad Sci USA, 110 (24): 9992-7. [PMID:23716704]