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Kearns-Sayre syndrome (CUI C0022541) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0022541

NCI Thesaurus Code: C84798  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare mitochondrial myopathy characterized by a progressive limitation of eye movements, leading to immobility and eye drop. It may be associated with muscle weakness, heart block, hearing loss, ataxia and short stature.

GARD Definition: Kearns-Sayre syndrome (KSS) is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy (a "salt-and-pepper" pigmentation in the retina that can affect vision, but often leaves it intact), and progressive external ophthalmoplegia (PEO). In addition, affected individuals have at least one of the following: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dL, or cerebellar ataxia. Kearns-Sayre syndrome is a mitochondrial DNA (mtDNA) deletion syndrome.  It results from abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. This and other mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body, resulting in multisystem effects. Treatment for this slowly progressive disorder is generally symptomatic and supportive.



- this information is from GARD/ORDR/NCATS.

NICHD Definition: A genetically heterogenous condition caused by various deletions of mitochondrial DNA. The condition is characterized by myopathy, with "ragged red" fibers on histopathology of muscle biopsy, progressive external ophthalmoplegia, pigmentary retinopathy, cardiac conduction defects, ataxia, cognitive impairment, and diabetes mellitus.

MSH 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 & Abbreviations: (see Synonym Details)
Chronic progressive external ophthalmoplegia with myopathy
CPEO with Myopathies
CPEO with myopathy
CPEO with ragged red fibers
Cpeo With Ragged-Red Fibers
Cytopathy, Kearn-Sayre Mitochondrial
Kearn Sayre Mitochondrial Cytopathy
Kearn Syndrome
Kearn-Sayre Mitochondrial Cytopathy
Kearns Sayre Shy Daroff Syndrome
Kearns Sayre Syndrome
Kearns Syndrome
Kearns' Syndrome
Kearns-Sayre Mitochondrial Cytopathy
Kearns-Sayre syndrome (disorder)
Kearns-Sayre Syndrome [Disease/Finding]
Kearns-Sayre syndrome
Kearns-Sayre-Shy-Daroff Syndrome
KSS - Kearns-Sayre syndrome
KSS
Mitochondrial Cytopathy, Kearn-Sayre
Mitochondrial cytopathy
Mitochondrial ocular myopathy
Myopathies, CPEO with
Myopathy, CPEO with
OCS syndrome
Oculocraniosomatic dystrophy
Oculocraniosomatic syndrome (disorder)
Oculocraniosomatic Syndromes
Oculocraniosomatic syndrome
Ophthalmoplegia plus syndrome (disorder)
Ophthalmoplegia Plus Syndromes
Ophthalmoplegia plus syndrome
Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy
Ophthalmoplegia, progressive external, with ragged red fibers
Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
Ophthalmoplegia-Plus Syndrome
Sayre Syndrome, Kearns
Syndrome, Kearns Sayre
Syndrome, Kearns'
Syndrome, Kearns-Sayre-Shy-Daroff
Syndrome, Kearns-Sayre
Syndrome, Kearns
Syndrome, Oculocraniosomatic
Syndrome, Ophthalmoplegia Plus

External Source Codes: 
NCI Thesaurus Code C84798 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID X00fb SNOMEDCT_US
CTV3ID XUFbe SNOMEDCT_US
CTV3ID XUKoG SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 4226 GARD
DISEASE_IDENTIFIER_ID 4227 GARD
DISEASE_IDENTIFIER_ID 4228 GARD
DISEASE_IDENTIFIER_ID 4229 GARD
DISEASE_IDENTIFIER_ID 4230 GARD
DISEASE_IDENTIFIER_ID 4231 GARD
DISEASE_IDENTIFIER_ID 4232 GARD
DISEASE_IDENTIFIER_ID 4233 GARD
DISEASE_IDENTIFIER_ID 4234 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HAS_GARD_PAGE true GARD
HN 2010 (1983) MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2007-01-09T00:00:00 GARD
MDA 19820426 MSH
MESH_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) NDFRT
MESH_DUI D007625 NDFRT
MESH_NAME Kearns-Sayre Syndrome NDFRT
MESH_UI M0011934 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150622 MSH
MN C05.651.460.700.500 MSH
MN C10.292.562.750.250.500 MSH
MN C10.597.622.447.511.500 MSH
MN C10.668.491.500.700.500 MSH
MN C11.590.472.250.500 MSH
MN C11.768.585.658.500.627 MSH
MN C14.280.238.510 MSH
MN C18.452.660.410 MSH
MN C18.452.660.560.700.500 MSH
MN C23.888.592.636.447.511.500 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Kearns-Sayre Syndrome NCI
NUI N0000001732 NDFRT
ORDER_NO 09420 ICD10CM
PM 2010; see KEARNS-SAYER SYNDROME 2000-2009, see KEARNS SYNDROME 1991-2004, see OPHTHALMOPLEGIA 1983-1990 MSH
PRIMARY_PATH 10048804$10052637$10052635$10010331$Kearns-Sayre syndrome$Genetic mitochondrial abnormalities NEC$Cytoplasmic disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6817/kearns-sayre-syndrome/resources/1 GARD
RXAUI 3184322 RXNORM
RXAUI 3184325 RXNORM
RXAUI 3184326 RXNORM
RXAUI 3184329 RXNORM
RXAUI 3287668 RXNORM
RXAUI 3287669 RXNORM
RXAUI 3287670 RXNORM
RXAUI 3288232 RXNORM
RXAUI 3288239 RXNORM
RXAUI 3288240 RXNORM
RXAUI 4222417 RXNORM
RXAUI 4222418 RXNORM
RXAUI 4222531 RXNORM
RXAUI 5039112 RXNORM
RXAUI 5039742 RXNORM
RXAUI 5039743 RXNORM
RXAUI 5931296 RXNORM
RXCUI 1026839 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 11.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_STATUS I MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 25792000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS H49.4 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS H49.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~H49.4 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~H49.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS H49.40 | CONSIDER LATERALITY SPECIFICATION SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS H49.819 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | CONSIDER LATERALITY SPECIFICATION SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~H49.40 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~H49.819 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X00fb SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUFbe SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUKoG SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T022907 MSH
TERMUI T022908 MSH
TERMUI T022909 MSH
TERMUI T370645 MSH
TERMUI T751601 MSH
TERMUI T751602 MSH
TERMUI T751603 MSH
TERMUI T751604 MSH
TERMUI T753183 MSH
TERMUI T781855 MSH
TERMUI T781856 MSH
TERMUI T781857 MSH
TERMUI T811674 MSH
TERMUI T811675 MSH
TERMUI T811676 MSH
TERMUI T841821 MSH
TH GHR (2014) MSH
TH NLM (1983) MSH
TH NLM (1990) MSH
TH NLM (2000) MSH
TH NLM (2010) MSH
TH NLM (2012) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US
USE_ADDITIONAL code for other manifestation, such as: ICD10CM
USE_ADDITIONAL heart block (I45.9) ICD10CM

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0022541

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