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ONTOLOGY REPORT - ANNOTATIONS


Term:Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy
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Accession:DOID:9009081 term browser browse the term
Definition:An autosomal recessive neuromuscular disorder characterized mainly by childhood onset of progressive muscle weakness and exercise intolerance. Patients have episodic exacerbation, which may be associated with increased serum creatine kinase or lactic acid. Additional more variable features may include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. The disorder results from impaired formation of Fe-S clusters, which are essential cofactors for proper mitochondrial function. MEOAL is caused by homozygous mutation in the FDX2 gene on chromosome 19p13. (OMIM)
Synonyms:exact_synonym: MEOAL
 primary_id: OMIM:251900
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Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdx2 ferredoxin 2 JBrowse link 8 22,086,534 22,091,450 RGD:7240710
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:8554872
G Slc25a42 solute carrier family 25, member 42 JBrowse link 16 20,962,144 21,000,191 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    sensory system disease 4970
      eye disease 2388
        optic nerve disease 211
          optic atrophy 112
            Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 3
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        peripheral nervous system disease 2360
          neuropathy 2175
            neuromuscular disease 1707
              muscular disease 1121
                muscle tissue disease 759
                  myopathy 614
                    mitochondrial myopathy 86
                      Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.