maternally-inherited cardiomyopathy and hearing loss
Findings
No curated finding names maternally-inherited cardiomyopathy and hearing loss yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.
Definition from the Mondo Disease Ontology (MONDO:0015283), read 2026-09-29. CC BY 4.0.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- Very frequent (80% to 99% of cases)
- Mild global developmental delayHPOHP:0011342
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
Show the remaining 18
- EncephalopathyHPOHP:0001298
- Frequent (30% to 79% of cases)
- Exercise intoleranceHPOHP:0003546
- Frequent (30% to 79% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Frequent (30% to 79% of cases)
- Increased circulating pyruvate concentrationHPOHP:0003542
- Frequent (30% to 79% of cases)
- Lower limb painHPOHP:0012514
- Frequent (30% to 79% of cases)
- Mental deteriorationHPOHP:0001268
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:7489HGNC:7489
- Supportive · Orphanet · Mitochondrial · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: maternally-inherited cardiomyopathy and hearing loss
- Also called
- maternally-inherited cardiomyopathy and deafnesstRNA-LYS-related cardiomyopathy-hearing loss syndrome