- Concept UI
- M0011934
- Scope Note
- 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)
- Terms
-
Kearns-Sayre Syndrome
Preferred Term
Term UI
T753183
Date06/22/2009
LexicalTag
EPO
ThesaurusID
-
Ophthalmoplegia Plus Syndrome
Term UI
T751603
Date05/21/2009
LexicalTag
NON
ThesaurusID
-
Kearns' Syndrome
Term UI
T022907
Date05/19/1989
LexicalTag
EPO
ThesaurusID
NLM (1990)
-
Chronic Progressive External Ophthalmoplegia with Myopathy
Term UI
T781855
Date12/09/2010
LexicalTag
NON
ThesaurusID
-
CPEO with Myopathy
Term UI
T781856
Date12/09/2010
LexicalTag
ABX
ThesaurusID
-
CPEO with Ragged Red Fibers
Term UI
T781857
Date12/09/2010
LexicalTag
ABX
ThesaurusID
-
Cpeo With Ragged-Red Fibers
Term UI
T811675
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Kearn-Sayre Mitochondrial Cytopathy
Term UI
T370645
Date11/03/1999
LexicalTag
EPO
ThesaurusID
NLM (2000)
-
Kearns Sayre Syndrome
Term UI
T751601
Date05/21/2009
LexicalTag
EPO
ThesaurusID
-
Kearns Syndrome
Term UI
T022908
Date01/01/1999
LexicalTag
EPO
ThesaurusID
NLM (1983)
-
Kearns-Sayre-Shy-Daroff Syndrome
Term UI
T022909
Date04/26/1982
LexicalTag
EPO
ThesaurusID
UNK (19XX)
-
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy
Term UI
T751604
Date05/21/2009
LexicalTag
NON
ThesaurusID
-
Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
Term UI
T811674
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Ophthalmoplegia-Plus Syndrome
Term UI
T811676
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Oculocraniosomatic Syndrome
Term UI
T751602
Date05/21/2009
LexicalTag
NON
ThesaurusID
-
Kearns-Sayre Mitochondrial Cytopathy
Term UI
T841821
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)