mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Findings
No curated finding names mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.
Definition from the Mondo Disease Ontology (MONDO:0014175), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive
HPO, annotations 2026-09-02
Features
26 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.
- Achilles tendon contractureHPOHP:0001771
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- DyspneaHPOHP:0002094
- 1 of 1 reported patient
- Easy fatigabilityHPOHP:0003388
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPO
Show the remaining 14
- HyperalaninemiaHPOHP:0003348
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 2 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- Left ventricular hypertrophyHPOHP:0001712
- 2 of 2 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
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.
- SLC25A4HGNC:10990
- Definitive · ClinGen · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
- Also called
- mitochondrial DNA depletion syndrome 12mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) ARmitochondrial DNA depletion syndrome 12B (cardiomyopathic type), ARMTDPS12B