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cardiomyopathy-hypotonia-lactic acidosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiomyopathy-hypotonia-lactic acidosis syndrome

MONDO:0012557

Also known as:hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndromeMpcdmitochondrial phosphate carrier deficiency

Overview

Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.

GeneticsAutosomal recessive · SLC25A3 (chr 12)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Thickened heart muscle (hypertrophic cardiomyopathy), Low muscle tone (hypotonia), Metabolic acidosis, and Lactic acidosis and others; and common findings: Cyanosis, Failure to thrive, Myopathy, and Low-output congestive heart failure. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Thickened heart muscle (hypertrophic cardiomyopathy), Low-output congestive heart failure

Genetic Landscape

SLC25A3 function has not been fully characterized.

Cardiomyopathy-hypotonia-lactic acidosis syndrome is associated with mutations in the SLC25A3 gene on chromosome 12.

Diagnosis

Genetic testing for SLC25A3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cardiomyopathy-hypotonia-lactic acidosis syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 very common features, 4 common features.

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 cardiomyopathy-hypotonia-lactic acidosis syndrome.

205 publications have been identified in PubMed for cardiomyopathy-hypotonia-lactic acidosis syndrome. Research spans Case Report / Case Series (39%), Review / Meta-Analysis (32%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Patient case studies	66	39%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610773

Orphanet

European rare disease database

Orphanet:91130

GARD

Genetic and Rare Diseases Info Center

GARD:16795

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

cardiomyopathy-hypotonia-lactic acidosis syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cardiomyopathy-hypotonia-lactic acidosis syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications