KSS
MCID: KRN002
MIFTS: 61

Kearns-Sayre Syndrome (KSS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases, Muscle diseases, Cardiovascular diseases categories
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Summaries for Kearns-Sayre Syndrome

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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 chronic progressive external ophthalmoplegia and myopathy, and has symptoms including hypothalamic-hypophyseal axis functional anomalies/hypopituitarism, ophthalmoplegia/ophthalmoparesis/oculomotor palsy and areflexia/hyporeflexia. An important gene associated with Kearns-Sayre Syndrome is RRM2B (ribonucleotide reductase M2 B (TP53 inducible)), and among its related pathways are purine nucleotide salvage and Cardiac muscle contraction. The compounds Ubiquinol 8 and rrna have been mentioned in the context of this disorder. Affiliated tissues include retina, heart and eye.

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

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8Disease Ontology, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 35MeSH, 58SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



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 62
kearns sayre syndrome 43 20 22
kss 43 21
ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy 43
ophthalmoplegia, progressive external, with ragged red fibers 43
chronic progressive external ophthalmoplegia with myopathy 43
chronic progressive external ophthalmoplegia 62
kearns-sayre mitochondrial cytopathy 21
ophthalmoplegia plus syndrome 43
cpeo with ragged red fibers 43
oculocraniosomatic syndrome 43
mitochondrial myopathies 62
mitochondrial cytopathy 43
cpeo with myopathy 43
ophthalmoplegia 10


External Ids:

Disease Ontology8 DOID:12934
OMIM47 530000
NCIt40 C84798
MESH via Orphanet36 D007625
ICD10 via Orphanet26 H49.8
SNOMED-CT via Orphanet59 25792000, 51464001, 77835008
UMLS via Orphanet63 C0022541

Related Diseases for Kearns-Sayre Syndrome

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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 361)
idRelated DiseaseScoreTop Affiliating Genes
1chronic progressive external ophthalmoplegia31.2RRM2B
2myopathy31.0COX5A, CPOX, MT-CYB
3melas syndrome30.5MT-ND5, MT-ND6
4mitochondrial disorders30.5COX5A, MT-ND5, MT-ATP6
5merrf syndrome30.3COX5A, MT-ND5, CPOX
6parkinson's disease30.2COX5A, MT-ND5, MT-CYB
7lactic acidosis29.8COX5A, CPOX, MT-ND5
8internuclear ophthalmoplegia11.0
9ophthalmoplegia10.9
10hypoparathyroidism10.7
11diabetes mellitus10.7
12atrioventricular block10.6
13mitochondrial encephalomyopathy10.6
14encephalomyopathy10.6
15cerebritis10.6
16glaucoma10.6
17pigmentary retinopathy10.6
18autosomal dominant progressive external ophthalmoplegia10.5
19exophthalmic ophthalmoplegia10.5
20fanconi syndrome10.5
21choroiditis10.5
22neuropathy10.5
23mitochondrial cardiomyopathy10.5
24tolosa-hunt syndrome10.5
25pearson syndrome10.4
26primary open angle glaucoma10.4
27dilated cardiomyopathy10.4
28hypothyroidism10.4
29long qt syndrome10.4
30open-angle glaucoma10.4
31growth hormone deficiency10.4
32herpes zoster10.4
33familial visceral myopathy with external ophthalmoplegia10.4
34herpes zoster ophthalmicus10.4
35minicore myopathy with external ophthalmoplegia10.3
36progressive supranuclear palsy10.3
37miller fisher syndrome10.3
38autosomal recessive progressive external ophthalmoplegia10.3
39focal segmental glomerulosclerosis10.3
40glomerulosclerosis10.3
41myoclonus epilepsy10.3
42meningitis10.3
43multiple sclerosis10.3
44autoimmune thyroiditis10.3
45mitral valve prolapse10.3
46addison's disease10.3
47sensorineural hearing loss10.3
48radiculopathy10.3
49vitelliform macular dystrophy10.3
50metabolic acidosis10.3

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



Diseases related to kearns-sayre syndrome

Symptoms for Kearns-Sayre Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

530000

Clinical features from OMIM:

530000

Symptoms:

49 (show all 14)
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • areflexia/hyporeflexia
  • 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
  • ataxia/incoordination/trouble of the equilibrium

Drugs & Therapeutics for Kearns-Sayre Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Kearns-Sayre Syndrome

Search NIH Clinical Center for Kearns-Sayre Syndrome

Genetic Tests for Kearns-Sayre Syndrome

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20GeneTests, 22GTR
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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

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

33
Retina, Heart, Eye, Skeletal muscle, Bone, Brain, Cortex, Skin, Testes, Thyroid, Pancreas

Animal Models for Kearns-Sayre Syndrome or affiliated genes

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Publications for Kearns-Sayre Syndrome

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52PubMed
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Articles related to Kearns-Sayre Syndrome:

(show top 50)    (show all 248)
idTitleAuthorsYear
1
Retraction note to: kearns sayre syndrome - case report with review of literature. (23853060)
2013
2
Progression of normal tension glaucoma in Kearns-Sayre syndrome over 10 years. (22004289)
2012
3
Kearns Sayre Syndrome (KSS) - A Rare Cause For Cardiac Pacing. (21346823)
2011
4
Choroid plexus failure in the Kearns-Sayre syndrome. (20731822)
2010
5
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. (20388557)
2010
6
Anesthetic considerations in a teenager with advanced symptoms of Kearns-Sayre syndrome. (19645998)
2009
7
De Toni-DebrAc-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report. (19946579)
2009
8
Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report. (18205082)
2008
9
Cochlear implantation results in patients with Kearns-Sayre syndrome. (18382375)
2008
10
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. (17720198)
2008
11
Kearns-Sayre syndrome presenting as complete heart block. (17763890)
2008
12
Three cases of Kearns-Sayre syndrome with cardiac blocks. (17468735)
2007
13
Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes. (16773512)
2006
14
Kearns Sayre syndrome: an unusual form of mitochondrial diabetes. (16735969)
2006
15
A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea. (15031771)
2004
16
A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. (12868503)
2003
17
Bilateral spontaneous corneal perforation associated with complete external ophthalmoplegia in mitochondrial myopathy (kearns-sayre syndrome). (12658098)
2003
18
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son. (14627683)
2003
19
Kearns-Sayre syndrome, abnormal corneal endothelium and normal tension glaucoma. (14510810)
2003
20
Sustained polymorphic ventricular tachycardia unassociated with QT prolongation or bradycardia in the Kearns-Sayre syndrome. (12930512)
2003
21
Kearns-Sayre syndrome: association with long QT syndrome? (11900295)
2002
22
Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia. (10683696)
1999
23
Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy. (9832255)
1998
24
Cochlear implantation in a patient with mitochondrial disease--Kearns-Sayre syndrome: a case report. (9042518)
1997
25
Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study. (7561952)
1995
26
Kearns-Sayre syndrome and cardiac anesthesia. (7780078)
1995
27
Anesthetic management for a patient with Kearns-Sayre syndrome. (7762859)
1995
28
Sinus dysrhythmia in Kearns-Sayre syndrome. (7517537)
1994
29
Progressive brainstem and white matter lesions in Kearns-Sayre syndrome: a case report. (7892965)
1994
30
Excess release of hypoxanthine from exercising muscle in patients with Kearns-Sayre syndrome. (8455663)
1993
31
Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence. (7683627)
1993
32
Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. (1635816)
1992
33
Kearns-Sayre syndrome--a case report. (2086479)
1990
34
Kearns-Sayre syndrome in the elderly: mitochondrial myopathy with advanced heart block. (2382624)
1990
35
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
36
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. (2556715)
1989
37
Hyperglycemic acidosis with mortality in Kearns-Sayre syndrome. (2801649)
1989
38
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. (2895391)
1988
39
Diabetes mellitus in Kearns-Sayre syndrome. (3284750)
1988
40
Reversible ischemic neurologic deficit in a patient with the Kearns-Sayre syndrome. (3363584)
1988
41
Mitochondrial studies in Kearns-Sayre syndrome: normal respiratory chain function with absence of a mitochondrial translation product. (3627452)
1987
42
Congestive heart failure due to mitochondrial cardiomyopathy in Kearns-Sayre syndrome. (3599796)
1987
43
Treatment of Kearns-Sayre syndrome with coenzyme Q10. (3941783)
1986
44
Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome. (3703509)
1986
45
Hypersomnia, bithalamic lesions, and altered sleep architecture in Kearns-Sayre syndrome. (3982647)
1985
46
Kearns-Sayre syndrome. (7171761)
1982
47
Kearns-Sayre syndrome. A case of the complete syndrome with encephalic leukodystrophy and calcification of basal ganglia. (7341548)
1981
48
Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy). Report of 2 cases and review of 17 published cases. (506943)
1979
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

Variations for Kearns-Sayre Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Kearns-Sayre Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1MT-TYm.5888delTdeletionPathogenicrs118203892GRCh37Chr MT, 5885: 5885
2MT-TYm.5877C> Tsingle nucleotide variantPathogenicrs118203893GRCh37Chr MT, 5877: 5877
3MT-TWm.5521G> Asingle nucleotide variantPathogenicrs199474673GRCh37Chr MT, 5521: 5521
4MT-TMm.4409T> Csingle nucleotide variantPathogenicrs118203884GRCh37Chr MT, 4409: 4409
5MT-TL2m.12320A> Gsingle nucleotide variantPathogenicrs121434463GRCh37Chr MT, 12320: 12320
6MT-TL1m.3249G> Asingle nucleotide variantPathogenicrs199474667GRCh37Chr MT, 3249: 3249
7MT-TAm.5591G> Asingle nucleotide variantPathogenicrs121434458GRCh37Chr MT, 5591: 5591

Expression for genes affiliated with Kearns-Sayre Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome
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Pathways related to Kearns-Sayre Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
guanosine nucleotides de novo biosynthesis38
guanosine ribonucleotides de novo biosynthesis38
adenosine ribonucleotides de novo biosynthesis38
purine nucleotides de novo biosynthesis38
9.6RRM2B, MT-ATP6, MT-ATP8
29.1MT-CYB, MT-CO2, COX5A
3
Show member pathways
Alzheimers Disease38
8.5COX5A, MT-ATP8, MT-ATP6, MT-CO2, MT-CYB
4
Show member pathways
7.8MT-ND6, COX5A, MT-ATP8, MT-ND5, MT-ATP6, MT-CO2
5
Show member pathways
7.3RRM2B, CPOX, MT-ND6, MT-CYB, MT-CO2, MT-ATP6

Compounds for genes affiliated with Kearns-Sayre Syndrome

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24HMDB, 45Novoseek, 11DrugBank, 51PharmGKB, 29IUPHAR
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Compounds related to Kearns-Sayre Syndrome according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1Ubiquinol 82410.2MT-ND5, MT-ND6
2rrna4510.0MT-ATP8, MT-CYB
3meloxicam45 1110.9COX5A, CPOX
4naproxen45 24 1111.9COX5A, CPOX
5Ubiquinone Q1249.9MT-ND6, MT-ND5
6(+-)-pgf2-alpha459.8CPOX, COX5A
7didanosine45 51 1111.8MT-CO2, COX5A
8pgd2459.8CPOX, COX5A
9txb2459.7CPOX, COX5A
10diclofenac45 29 51 1112.6CPOX, COX5A
11rofecoxib45 51 29 1112.6COX5A, CPOX, MT-CO2
12Water249.6MT-ATP8, MT-CO2, CPOX, RRM2B
13salicylic acid45 2910.6COX5A, CPOX
14haem459.5CPOX, MT-CYB, COX5A
15citrate459.5COX5A, MT-CO2, CPOX
16succinate459.5COX5A, CPOX, MT-CYB
17prostaglandin459.5COX5A, CPOX, MT-CO2
18thromboxane45 2410.5CPOX, COX5A
19heme29 24 1111.5CPOX, MT-CYB, COX5A
20cholic acid45 29 24 1112.4MT-CO2, COX5A, MT-CYB
21hydrogen45 2410.4MT-CYB, MT-CO2, MT-ATP6, CPOX
22ibuprofen45 29 51 24 1113.3CPOX, COX5A
23ascorbic acid45 2410.2MAG, COX5A, MT-CYB
24copper45 2410.2COX5A, MT-CO2, CPOX, MT-CYB
25iron45 2410.0RRM2B, CPOX, MT-ND6, MT-CYB, COX5A
26alanine459.0MT-ND5, MT-ND6, CPOX, MT-CYB, MAG
27glutamate458.5NPTX2, COX5A, MT-CYB, CPOX
28atp45 299.5COX5A, MT-ND5, MT-ATP6, CPOX, MT-CO2, MT-CYB
29serine458.4MT-CYB, MT-ND6, MT-ND5, COX5A, MAG
30oxygen45 249.3MT-CYB, RRM2B, CPOX, MT-ND6, MT-CO2, MT-ATP6
31nadh45 24 1110.0MT-CO2, CPOX, MT-ND6, MT-CYB, MT-ATP6, MT-ND5

GO Terms for genes affiliated with Kearns-Sayre Syndrome

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Products for genes affiliated with Kearns-Sayre Syndrome

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Sources for Kearns-Sayre Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet