KEGG   DISEASE: Kearns-Sayre syndromeHelp
Entry
H01355                      Disease                                

Name
Kearns-Sayre syndrome
  Supergrp
Mitochondrial disease [DS:H01427]
Description
Kearns-Sayre Syndrome is a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia. This disease is caused by various large-scale deletions of mitochondrial DNA.
Category
Nervous system disease; Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H01355  Kearns-Sayre syndrome
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Strabismus or ocular motility
   9C82  Disorders of extraocular muscles
    H01355  Kearns-Sayre syndrome
BRITE hierarchy
Pathway
hsa00190  Oxidative phosphorylation
hsa04260  Cardiac muscle contraction
Gene
MT-ATP6 [HSA:4508] [KO:K02126]
MT-ATP8 [HSA:4509] [KO:K02125]
MT-CO3 [HSA:4514] [KO:K02262]
MT-CYB [HSA:4519] [KO:K00412]
MT-ND3 [HSA:4537] [KO:K03880]
MT-ND4 [HSA:4538] [KO:K03881]
MT-ND4L [HSA:4539] [KO:K03882]
MT-ND5 [HSA:4540] [KO:K03883]
MT-ND6 [HSA:4541] [KO:K03884]
Comment
Mitochondrial disease
Other DBs
ICD-11: 9C82.0
ICD-10: H49.8
MeSH: D007625
OMIM: 530000
Reference
  Authors
Obara-Moszynska M, Maceluch J, Bobkowski W, Baszko A, Jaremba O, Krawczynski MR, Niedziela M
  Title
A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.
  Journal
BMC Pediatr 13:27 (2013)
DOI:10.1186/1471-2431-13-27
Reference
PMID:9727847
  Authors
Boles RG, Roe T, Senadheera D, Mahnovski V, Wong LJ
  Title
Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease.
  Journal
Eur J Pediatr 157:643-7 (1998)
DOI:10.1007/s004310050902

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