Mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy)

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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 8A (encephalomyopathic type with renal tubulopathy)
MONDO_0012792
RRM2B Unknown
27604308 19667227 17486094 23107649 19138848 21378381 19664747 21646632 25929793 28482374 29241262 25655951
Open Targets
All1 Causal0 Unknown1
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Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction 1 shared geneRRM2B Related via 1 shared gene including RRM2B. Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 1 shared geneRRM2B Related via 1 shared gene including RRM2B. Progressive external ophthalmoplegia with mitochondrial dna deletions (autosomal dominant) 1 shared geneRRM2B Related via 1 shared gene including RRM2B. Chronic progressive external ophthalmoplegia 1 shared geneRRM2B Related via 1 shared gene including RRM2B. Camptocormia 1 shared geneRRM2B Related via 1 shared gene including RRM2B.