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

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Subtype of: Mitochondrial dna depletion syndrome
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
MONDO_0014175
SLC25A4 Causal
12112115 16155110 22187496 25655951 25732997 27693233 30013777
ClinGen, Open Targets
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive.
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Severe early-onset mitochondrial disease and loss of mitochondrial dna copy number 1 shared geneSLC25A4 Related via 1 shared gene including SLC25A4. Progressive external ophthalmoplegia with mitochondrial dna deletions 3 1 shared geneSLC25A4 Related via 1 shared gene including SLC25A4. Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2 1 shared geneSLC25A4 Related via 1 shared gene including SLC25A4. Fontaine progeroid syndrome 1 shared geneSLC25A4 Related via 1 shared gene including SLC25A4. Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome 1 shared geneSLC25A4 Related via 1 shared gene including SLC25A4.