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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 Myopathies;   CPEO with Myopathy;   Chronic Progressive External Ophthalmoplegia with Myopathy;   Cpeo With Ragged-Red Fibers;   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;   Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
 primary_id: MESH:D007625
 alt_id: OMIM:530000;   RDO:0002764
 xref: GARD:6817
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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 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

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Path 1
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  disease 14759
    syndrome 4210
      Kearns-Sayre syndrome 4
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            neuromuscular disease 1406
              muscular disease 902
                muscle tissue disease 631
                  myopathy 521
                    mitochondrial myopathy 78
                      chronic progressive external ophthalmoplegia 22
                        Kearns-Sayre syndrome 4
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