cardiomyopathy-hypotonia-lactic acidosis syndrome
Findings
No curated finding names cardiomyopathy-hypotonia-lactic acidosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0012557), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Abnormality of the mitochondrionHPOHP:0012103
- Very frequent (80% to 99% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Very frequent (80% to 99% of cases)
- Lactic acidosisHPOHP:0003128
- Neonatal onset
- Very frequent (80% to 99% of cases)
- Metabolic acidosisHPOHP:0001942
- Neonatal onset
- Very frequent (80% to 99% of cases)
Show the remaining 1
- Respiratory insufficiencyHPOHP:0002093
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.
- SLC25A3HGNC:10989
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: cardiomyopathy-hypotonia-lactic acidosis syndrome
- Also called
- hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome