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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 chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
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:9,120...9,800
Ensembl chr MT:9,120...9,800
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:8,959...9,162
Ensembl chr MT:8,959...9,162
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:9,800...10,583
Ensembl chr MT:9,800...10,583
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:10,653...10,998
Ensembl chr MT:10,653...10,998
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:11,359...12,736
Ensembl chr MT:11,359...12,736
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:12,935...14,755
Ensembl chr MT:12,935...14,755
JBrowse link
G ND4L NADH dehydrogenase subunit 4L ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
JBrowse link
G TFAM transcription factor A, mitochondrial ISO OMIM:530000 MouseDO NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    syndrome 9845
      Kearns-Sayre syndrome 11
Path 2
Term Annotations click to browse term
  disease 17416
    disease of anatomical entity 14866
      nervous system disease 12941
        peripheral nervous system disease 3975
          neuropathy 3784
            neuromuscular disease 2970
              muscular disease 2079
                muscle tissue disease 1255
                  myopathy 969
                    mitochondrial myopathy 121
                      chronic progressive external ophthalmoplegia 30
                        Kearns-Sayre syndrome 11
paths to the root