Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

MONDO:0014175

An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.

Also known as: MTDPS12B, mitochondrial DNA depletion syndrome 12, mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR, mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, MTDPS12, mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), mitochondrial DNA depletion syndrome type 12

40 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn mitochondrial metabolism disorder (57) Inborn errors of metabolism (42) Mitochondrial disease (39) Human disease (14) Developmental defect during embryogenesis (7) Mitochondrial DNA depletion syndrome (3) Mitochondrial oxidative phosphorylation disorder (3)

Trials to join now! 19 Not yet recruiting 4 Not yet finished but already full! 7 Completed 9 Terminated 1

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

Broader categories

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