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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   Ophthalmoplegia Plus Syndrome;   Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy;   oculocraniosomatic syndromes;   ophthalmoplegia plus syndromes;   progressive external ophthalmoplegia with ragged-red fibers
 primary_id: MESH:D007625
 alt_id: OMIM:530000
 xref: GARD:6817;   ICD10CM:H49.81;   NCI:C84798
For additional species annotation, visit the Alliance of Genome Resources.


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Kearns-Sayre syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,964...8,644
Ensembl chr MT:7,964...8,644 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,803...8,006
Ensembl chr MT:7,803...8,006 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,644...9,427
Ensembl chr MT:8,644...9,427 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,496...9,841
Ensembl chr MT:9,496...9,842 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598 		JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,911...10,207
Ensembl chr MT:9,911...10,207 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		JBrowse link
G TFAM transcription factor A, mitochondrial ISO OMIM:530000 MouseDO NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 10115
      Kearns-Sayre syndrome 11
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15182
      nervous system disease 13239
        peripheral nervous system disease 4053
          neuropathy 3856
            neuromuscular disease 3025
              muscular disease 2135
                muscle tissue disease 1291
                  myopathy 1003
                    mitochondrial myopathy 123
                      chronic progressive external ophthalmoplegia 30
                        Kearns-Sayre syndrome 11
paths to the root