KSS
MCID: KRN002
MIFTS: 53

Kearns-Sayre Syndrome (KSS) malady

Neuronal, Eye, Ear, Metabolic, Endocrine, Fetal categories

Summaries for Kearns-Sayre Syndrome

Sources:
43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 47OMIM, 33MalaCards
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NINDS:44 Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20 years. It is the result of 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. The mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body. KSS is characterized by progressive limitation of eye movements until there is complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS.

MalaCards: Kearns-Sayre Syndrome, also known as kearns sayre syndrome, is related to melas syndrome and leber hereditary optic neuropathy, and has symptoms including ataxia/incoordination/trouble of the equilibrium, hemiplegia/diplegia/hemiparesia/limb palsy and hypotonia. An important gene associated with Kearns-Sayre Syndrome is MT-TL1 (mitochondrially encoded tRNA leucine 1 (UUA/G)), and among its related pathways are adenosine ribonucleotides de novo biosynthesis and Cardiac muscle contraction. The compounds meloxicam and naproxen have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and brain.

NIH Rare Diseases:43 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. last updated: 1/13/2009

Genetics Home Reference:21 Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis). Affected individuals also have an eye condition called pigmentary retinopathy, which results from breakdown (degeneration) of the light-sensing tissue at the back of the eye (the retina) that gives it a speckled and streaked appearance. The retinopathy may cause loss of vision. In addition, people with Kearns-Sayre syndrome have at least one of the following signs or symptoms: abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects), problems with coordination and balance that cause unsteadiness while walking (ataxia), or abnormally high levels of protein in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF).

Description from OMIM:47 530000

Aliases & Classifications for Kearns-Sayre Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Ear, Metabolic, Endocrine


Characteristics (Orphanet epidemiological data):

49
kearns-sayre syndrome:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Young adult


Aliases & Descriptions:

kearns-sayre syndrome 8 21 44 10 45 49 47 61
kearns sayre syndrome 43 20 22
kss 43 21
chronic progressive external ophthalmoplegia with myopathy 43
chronic progressive external ophthalmoplegia 61
kearns-sayre mitochondrial cytopathy 21
cpeo with ragged red fibers 43
mitochondrial myopathies 61
mitochondrial cytopathy 43
cpeo with myopathy 43


External Ids:

Disease Ontology8 DOID:12934
OMIM47 530000
NCIt40 C84798
MESH via Orphanet36 D007625
ICD10 via Orphanet26 H49.8
SNOMED-CT via Orphanet58 25792000, 51464001, 77835008
UMLS via Orphanet62 C0022541

Related Diseases for Kearns-Sayre Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Kearns-Sayre Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1melas syndrome30.6MT-ND5, MT-ND6
2leber hereditary optic neuropathy30.6MT-ND6, MT-CYB, MT-ND5
3mitochondrial disorders30.6MT-ND5, MT-ATP6, COX5A
4merrf syndrome30.4COX5A, MT-ND5, CPOX
5mitochondrial complex i deficiency30.2MT-ND5, MT-ND6
6say syndrome11.5
7n syndrome10.9
8hypoparathyroidism10.7
9atrioventricular block10.6
10mitochondrial cardiomyopathy10.6
11encephalomyopathy10.6
12pigmentary retinopathy10.6
13pearson syndrome10.5
14fanconi syndrome10.5
15micro syndrome10.5
16char syndrome10.5
17strabismus10.5
18autosomal dominant progressive external ophthalmoplegia10.5
19maternally-inherited progressive external ophthalmoplegia10.5
20adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.5
21sideroblastic anemia and mitochondrial myopathy10.4
22primary open angle glaucoma10.4
23adult syndrome10.4
24addison's disease10.4
25toni-fanconi syndrome10.4
26growth hormone deficiency10.4
27focal segmental glomerulosclerosis10.4
28focal glomerulosclerosis10.4
29mitochondrial myopathy with diabetes10.3
30mitochondrial myopathy and sideroblastic anemia 110.3
31mitochondrial myopathy - lactic acidosis - deafness10.3
32cataract, zonular10.3
33mitral valve prolapse10.3
34autoimmune thyroiditis10.3
35sensorineural hearing loss10.3
36radiculopathy10.3
37conduct disorder10.3
38cochlear disease10.3
39vitelliform macular dystrophy10.3
40renal tubular acidosis10.3
41arc syndrome10.3
42metabolic acidosis10.3
43spinocerebellar ataxia10.3
44thyroiditis10.3
45adult-onset vitelliform macular dystrophy10.3
46young syndrome10.3
47cerebral folate deficiency10.3
48rud syndrome10.3
49image syndrome10.3
50ataxia10.3

Graphical network of the top 20 diseases related to Kearns-Sayre Syndrome:



Diseases related to kearns-sayre syndrome

Clinical Features for Kearns-Sayre Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

530000

Clinical synopsis from OMIM:

530000

Symptoms:

49 (show all 14)
  • ataxia/incoordination/trouble of the equilibrium
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • hypotonia
  • hearing loss/hypoacusia/deafness
  • delayed bone age
  • retinitis pigmentosa/retinal pigmentary changes
  • short stature/dwarfism/nanism
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • areflexia/hyporeflexia
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism

Drugs & Therapeutics for Kearns-Sayre Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Kearns-Sayre Syndrome

Drug clinical trials:

Search ClinicalTrials for Kearns-Sayre Syndrome

Search NIH Clinical Center for Kearns-Sayre Syndrome

Search CenterWatch for Kearns-Sayre Syndrome

Genetic Tests for Kearns-Sayre Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Kearns-Sayre Syndrome:

id Genetic test Affiliating Genes
1 Kearns-sayre Syndrome20
2 Kearns Sayre Syndrome22

Anatomical Context for Kearns-Sayre Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Kearns-Sayre Syndrome:

33
Skin, Spinal cord, Brain, Cortex, Retina, Heart, Skeletal muscle, Pancreas, Thyroid, B cells

Animal Models for Kearns-Sayre Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Kearns-Sayre Syndrome

Sources:
51PubMed
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Articles related to Kearns-Sayre Syndrome:

(show top 50)    (show all 252)
idTitleAuthorsYear
1
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. (23421922)
2013
2
Natural history of conduction abnormalities in a patient with Kearns-Sayre syndrome. (22614904)
2013
3
Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. (23947115)
2013
4
Progression of normal tension glaucoma in Kearns-Sayre syndrome over 10 years. (22004289)
2012
5
Symptomatic complete heart block leading to a diagnosis of Kearns-Sayre syndrome. (23102393)
2012
6
Kearns Sayre Syndrome (KSS) - A Rare Cause For Cardiac Pacing. (21346823)
2011
7
Kearns-Sayre syndrome presenting as somatomedin C deficiency and complete heart block. (21248459)
2010
8
A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles. (20388556)
2010
9
Blepharoptosis due to Kearns-Sayre syndrome. (18243832)
2008
10
Craniofacial abnormalities in a patient with cytochrome-c-oxidase deficiency subsequently developing Kearns-Sayre syndrome. (17625486)
2007
11
A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea. (15031771)
2004
12
Kearns-Sayre syndrome associated with de Toni-DebrAc-Fanconi syndrome due to cytochrome-c-oxidase (COX) deficiency. (11579332)
2001
13
Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome. (11359024)
2001
14
A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. (11448301)
2001
15
Atrioventricular block in Kearns-Sayre syndrome: a case report. (11559973)
2001
16
Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia. (10683696)
1999
17
Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome. (10465502)
1999
18
Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy. (9832255)
1998
19
Cerebral infarction associated with Kearns-Sayre syndrome. (9222217)
1997
20
Elevated levels of the Kearns-Sayre syndrome mitochondrial DNA deletion in temporal cortex of Alzheimer's patients. (9357554)
1997
21
Exercise intolerance in Kearns-Sayre syndrome. (18638908)
1996
22
Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome. (8907347)
1996
23
Cerebral infarction associated with Kearns-Sayre syndrome-related cardiomyopathy. (8618693)
1996
24
Excess release of hypoxanthine from exercising muscle in patients with Kearns-Sayre syndrome. (8455663)
1993
25
Progression of myopathology in Kearns-Sayre syndrome: a morphological follow-up study. (8393264)
1993
26
Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion. (8186712)
1993
27
Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child. (1734716)
1992
28
Deletion of mitochondrial DNA in the endomyocardial biopsy sample from a patient with Kearns-Sayre syndrome. (1289103)
1992
29
Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia. (1646110)
1991
30
Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome. (1894466)
1991
31
Leber's hereditary optic neuropathy and Kearns-Sayre syndrome: mitochondrial DNA mutations. (1755871)
1991
32
Kearns-Sayre syndrome presenting as renal tubular acidosis. (2234434)
1990
33
Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR. (1973036)
1990
34
Kearns-Sayre syndrome and dilated cardiomyopathy. (2314603)
1990
35
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
36
Kearns-Sayre syndrome and complex II deficiency. (2710360)
1989
37
Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus. (2709060)
1989
38
Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome. (2541710)
1989
39
Diabetes mellitus in Kearns-Sayre syndrome. (3284750)
1988
40
Treatment of Kearns-Sayre syndrome with coenzyme Q10. (3941783)
1986
41
Conduction disturbances in the Kearns-Sayre syndrome. (3769490)
1986
42
Hypersomnia, bithalamic lesions, and altered sleep architecture in Kearns-Sayre syndrome. (3982647)
1985
43
Retinal pathology in the Kearns-Sayre syndrome. (3965031)
1985
44
Kearns-Sayre syndrome: primarily a mitochondriopathy? (7095238)
1982
45
Abrupt neurological deterioration in children with Kearns-Sayre syndrome. (7213149)
1981
46
'Ophthalmoplegia plus' or Kearns-Sayre syndrome? (7362499)
1980
47
Kearns-Sayre syndrome with hypoparathyroidism. (677816)
1978
48
Diabetes Mellitus in Kearns-Sayre syndrome. (629253)
1978
49
Kearns-Sayre syndrome or ophthalmoplegia-plus? To lump or to split? (1028217)
1976
50
A clinical report of Kearns-Sayre syndrome with the electrophysiological evaluation. (1232696)
1975

Genetic Variations for Kearns-Sayre Syndrome

Expression for genes affiliated with Kearns-Sayre Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Kearns-Sayre Syndrome

Search GEO for disease gene expression data for Kearns-Sayre Syndrome.

Pathways for genes affiliated with Kearns-Sayre Syndrome

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG
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Compounds for genes affiliated with Kearns-Sayre Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR
See all sources

Compounds related to Kearns-Sayre Syndrome according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1meloxicam45 1111.0CPOX, COX5A
2naproxen45 11 2411.9CPOX, COX5A
3didanosine45 1110.9COX5A, MT-CO2
4iron-sulfur459.7SDHA, MT-CYB
5N-Formylmethionine119.7MT-CO2, COX5A
6rofecoxib45 50 29 1112.7COX5A, MT-CO2, CPOX
7(+-)-pgf2-alpha459.7COX5A, CPOX
8haem459.7CPOX, MT-CYB, COX5A
9citrate459.6CPOX, MT-CO2, COX5A
10cholic acid45 29 11 2412.6COX5A, MT-CO2, MT-CYB
11hydrogen45 2410.4CPOX, MT-CYB, MT-ATP6, MT-CO2
12copper45 2410.4CPOX, MT-CYB, MT-CO2, COX5A
13prostaglandin459.3CPOX, MT-CO2, COX5A
14succinate459.3SDHA, CPOX, MT-CYB, COX5A
15heme29 11 2411.1CPOX, MT-CYB, COX5A
16alanine459.0MT-ND6, MT-CYB, MT-ND5, MAG, CPOX
17iron45 249.8COX5A, MT-ND6, MT-CYB, RRM2B, CPOX, SDHA
18atp45 299.8COX5A, MT-CO2, MT-ATP6, MT-CYB, MT-ND5, CPOX
19oxygen45 249.3COX5A, MT-ND6, MT-CO2, MT-ATP6, MT-CYB, RRM2B
20nadh45 11 2410.0SDHA, COX5A, MT-ND6, MT-CO2, MT-ATP6, MT-CYB

GO Terms for genes affiliated with Kearns-Sayre Syndrome

Products for genes affiliated with Kearns-Sayre Syndrome

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Sources for Kearns-Sayre Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet