Familial amyloid cardiomyopathy

Disease ID:1129
Name:Familial amyloid cardiomyopathy
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
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

Targets

transthyretin
Drugs:  Tafamidis
References:  2
Mutations:  transthyretin is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Familial amyloid cardiomyopathy

References

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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. U.S.A., 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. U.S.A., 110 (24): 9992-7. [PMID:23716704]