hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Findings
No curated finding names hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.
Definition from the Mondo Disease Ontology (MONDO:0017933), read 2026-09-29. CC BY 4.0.
Features
20 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.
- CardiomyopathyHPOHP:0001638
- Frequent (30% to 79% of cases)
- Cerebral atrophyHPOHP:0002059
- Frequent (30% to 79% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- Decreased activity of mitochondrial complex IHPOHP:0011923
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancy
Show the remaining 8
- 3-Methylglutaconic aciduriaHPOHP:0003535
- Occasional (5% to 29% of cases)
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- Occasional (5% to 29% of cases)
- HyperalaninemiaHPOHP:0003348
- Occasional (5% to 29% of cases)
- HypsarrhythmiaHPOHP:0002521
- Occasional (5% to 29% of cases)
- Increased CSF lactateHPOHP:0002490
- Occasional (5% to 29% of cases)
- Renal tubular acidosisHPOHP:0001947
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
- Also called
- hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation