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ONTOLOGY REPORT - ANNOTATIONS


Term:Kearns-Sayre syndrome
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Accession:DOID:12934 term browser browse the term
Definition:A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
Synonyms:exact_synonym: CPEO With Ragged-Red Fibers;   CPEO with Myopathy;   CPEO with myopathies;   Chronic Progressive External Ophthalmoplegia with Myopathy;   KSS;   Kearn Sayre Mitochondrial Cytopathy;   Kearn Syndrome;   Kearns Sayre Shy Daroff Syndrome;   Kearns Syndrome;   Kearns-Sayre Mitochondrial Cytopathy;   Oculocraniosomatic Syndrome;   Oculocraniosomatic Syndromes;   Ophthalmoplegia Plus Syndrome;   Ophthalmoplegia Plus Syndromes;   Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy;   progressive external ophthalmoplegia with ragged-red fibers
 primary_id: MESH:D007625
 alt_id: OMIM:530000;   RDO:0002764
 xref: GARD:6817;   ICD10CM:H49.81;   NCI:C84798
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Kearns-Sayre 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-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-atp8 mitochondrially encoded ATP synthase 8 JBrowse link MT 7,758 7,961 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd4l mitochondrially encoded NADH 4L dehydrogenase JBrowse link MT 9,870 10,166 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872
G Ppargc1a PPARG coactivator 1 alpha JBrowse link 14 63,095,291 63,190,688 RGD:7241824
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:13592920

Term paths to the root
Path 1
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  disease 15553
    syndrome 5224
      Kearns-Sayre syndrome 11
Path 2
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  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1559
              muscular disease 1002
                muscle tissue disease 695
                  myopathy 559
                    mitochondrial myopathy 79
                      chronic progressive external ophthalmoplegia 26
                        Kearns-Sayre syndrome 11
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.