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hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

MONDO:0017933

Also known as:hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation

Overview

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.

ResearchLimited published research (2 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation.

2 publications have been identified in PubMed for hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Adorisio R (2025). [PMID: 40678571](https://pubmed.ncbi.nlm.nih.gov/40678571/). *Front Cardiovasc Med*. [Review / Meta-Analysis]
Bayrak H (2024). [PMID: 39634248](https://pubmed.ncbi.nlm.nih.gov/39634248/). *Mol Syndromol*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 9:24 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:324525

GARD

Genetic and Rare Diseases Info Center

GARD:21442

Questions for Your Care Team

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hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team