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ONTOLOGY REPORT - ANNOTATIONS


Term:MELAS syndrome
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Accession:DOID:3687 term browser browse the term
Definition:A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)
Synonyms:exact_synonym: MELAS;   Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes;   Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes;   Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode;   Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
 narrow_synonym: PARKINSONISM/MELAS OVERLAP SYNDROME
 primary_id: MESH:D017241;   RDO:0001537
 alt_id: OMIM:540000
For additional species annotation, visit the Alliance of Genome Resources.


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MELAS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-co1 mitochondrially encoded cytochrome c oxidase 1 JBrowse link MT 5,323 6,867 RGD:11554173
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:11554173
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:5491184
RGD:11554173
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:11554173
RGD:8554872
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490235
RGD:11554173
RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:5491173
RGD:11554173
RGD:8554872
RGD:5507825
RGD:5491184
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
RGD:11554173
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Pus1 pseudouridine synthase 1 JBrowse link 12 51,936,721 51,945,930 RGD:7240710
RGD:8554872
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:7240710
RGD:8554872
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14314
    syndrome 4612
      MELAS syndrome 17
        MERRF/MELAS Overlap Syndrome 0
        myopathy, lactic acidosis, and sideroblastic anemia + 4
Path 2
Term Annotations click to browse term
  disease 14314
    disease of anatomical entity 13524
      nervous system disease 8575
        peripheral nervous system disease 1979
          neuropathy 1806
            neuromuscular disease 1391
              muscular disease 885
                muscle tissue disease 621
                  myopathy 515
                    mitochondrial myopathy 76
                      mitochondrial encephalomyopathy 42
                        MELAS syndrome 17
                          MERRF/MELAS Overlap Syndrome 0
                          myopathy, lactic acidosis, and sideroblastic anemia + 4
paths to the root