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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 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969 		JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390 		JBrowse link
G mt-Nd3 NADH dehydrogenase 3, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,459...9,806
Ensembl chr MT:9,459...9,806 		JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544 		JBrowse link
G mt-Nd4l NADH dehydrogenase 4L, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,877...10,173
Ensembl chr MT:9,877...10,173 		JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565 		JBrowse link
G mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458 		JBrowse link
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:25741868 PMID:31965079 NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764 		JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:11448301 PMID:20550934 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		JBrowse link
G mt-Tl2 tRNA leucine 2, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,671...11,741
Ensembl chr MT:11,671...11,741 		JBrowse link
G mt-Tr tRNA arginine, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,808...9,875
Ensembl chr MT:9,808...9,875 		JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671 		JBrowse link
G mt-Ty tRNA tyrosine, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:11594340 PMID:11756614 NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha IMP RGD PMID:23406886 RGD:7241824 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Tfam transcription factor A, mitochondrial IAGP OMIM:530000 MouseDO NCBI chr10:71,061,298...71,074,157
Ensembl chr10:71,061,294...71,074,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      Kearns-Sayre syndrome 19
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        peripheral nervous system disease 4114
          neuropathy 3914
            neuromuscular disease 3076
              muscular disease 2168
                muscle tissue disease 1314
                  myopathy 1030
                    mitochondrial myopathy 145
                      chronic progressive external ophthalmoplegia 39
                        Kearns-Sayre syndrome 19
paths to the root