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cardiomyopathy and deafness due to tRNA lysine gene mutation
Disease Summary
Associated Targets ()
Mondo Description A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms.
Mondo Term and Equivalent IDs
MONDO:0022648: cardiomyopathy and deafness due to tRNA lysine gene mutation
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0001108
UMLS:CN036924
MONDO:0022648
High level summary of knowledge for a disease, including descriptions and datasource references.