MCID: KRN002
MIFTS: 52

Kearns-Sayre Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Metabolic diseases, Endocrine diseases, Fetal diseases, Cardiovascular diseases categories

Aliases & Classifications for Kearns-Sayre Syndrome

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Kearns-Sayre Syndrome, Aliases & Descriptions:

Name: Kearns-Sayre Syndrome 9 41 20 21 42 11 43 47 22 60
Mitochondrial Cytopathy 41 60
Kss 41 21
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 41
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 41
Chronic Progressive External Ophthalmoplegia with Myopathy 41
 
Kearns-Sayre Mitochondrial Cytopathy 21
Ophthalmoplegia Plus Syndrome 41
Cpeo with Ragged Red Fibers 41
Oculocraniosomatic Syndrome 41
Mitochondrial Myopathies 60
Cpeo with Myopathy 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
kearns-sayre syndrome:
Inheritance: Autosomal recessive,Mitochondrial inheritance,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood; Age of death: adolescent,adult,elderly,late childhood,normal life expectancy,young Adult


External Ids:

Disease Ontology9 DOID:12934
NCIt38 C84798
Orphanet47 480
MESH via Orphanet34 D007625
ICD10 via Orphanet26 H49.8
UMLS via Orphanet61 C0022541

Summaries for Kearns-Sayre Syndrome

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NINDS:42 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 based summary: Kearns-Sayre Syndrome, also known as mitochondrial cytopathy, is related to ophthalmoplegia and chronic progressive external ophthalmoplegia, and has symptoms including ophthalmoparesis, abnormal retinal pigmentation and arrhythmia. An important gene associated with Kearns-Sayre Syndrome is MT-TY (mitochondrially encoded tRNA tyrosine), and among its related pathways are purine nucleotide salvage and tRNA Aminoacylation. The compounds Ubiquinol 8 and meloxicam have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and heart.

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).

NIH Rare Diseases:41 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: 12/17/2014

Related Diseases for Kearns-Sayre Syndrome

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Diseases related to Kearns-Sayre Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1ophthalmoplegia31.8ATXN7
2chronic progressive external ophthalmoplegia31.7CPOX, COX5A
3mitochondrial encephalomyopathy31.7NPTX2
4myopathy31.2MT-CYB, CPOX, COX5A
5mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes31.0MT-ND5, MT-ND6
6lactic acidosis30.9COX5A, MT-ND5, CPOX
7mitochondrial disorders30.9MT-ATP6, MT-ND5, COX5A
8merrf syndrome30.7COX5A, MT-ND5, CPOX
9hypoparathyroidism10.8
10cerebritis10.6
11atrioventricular block10.6
12encephalomyopathy10.6
13pigmentary retinopathy10.6
14fanconi syndrome10.5
15choroiditis10.5
16neuropathy10.5
17ptosis10.5
18mitochondrial cardiomyopathy10.5
19dilated cardiomyopathy10.4
20pearson syndrome10.4
21basal ganglia calcification10.4
22hypothyroidism10.4
23long qt syndrome10.4
24open-angle glaucoma10.4
25cerebral folate deficiency10.4
26growth hormone deficiency10.4
27focal segmental glomerulosclerosis10.4
28glomerulosclerosis10.4
29visual pathway disease10.3NPTX2, MT-ATP6
30early myoclonic encephalopathy10.3MT-ND5, COX5A
31leigh syndrome10.3MT-ATP6, MT-ND5
32mitochondrial complex i deficiency10.3MT-ND6, MT-ND5
33cataract10.3
34myoclonus epilepsy10.3
35myoclonus10.3
36choroideremia10.3
37cardiac conduction defect10.3
38congestive heart failure10.3
39renal tubular acidosis10.3
40autoimmune thyroiditis10.3
41addison's disease10.3
42sensorineural hearing loss10.3
43radiculopathy10.3
44vitelliform macular dystrophy10.3
45metabolic acidosis10.3
46gout10.3
47cervicitis10.3
48corneal dystrophy10.3
49dystonia10.3
50hyperglycemia10.3

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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Symptoms:

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

HPO human phenotypes related to Kearns-Sayre Syndrome:

(show all 37)
id Description Frequency HPO Source Accession
1 ophthalmoparesis hallmark (90%) HP:0000597
2 abnormal retinal pigmentation hallmark (90%) HP:0007703
3 arrhythmia hallmark (90%) HP:0011675
4 hearing impairment typical (50%) HP:0000365
5 anterior hypopituitarism typical (50%) HP:0000830
6 muscular hypotonia typical (50%) HP:0001252
7 reduced tendon reflexes typical (50%) HP:0001315
8 incoordination typical (50%) HP:0002311
9 amyotrophy typical (50%) HP:0003202
10 emg abnormality typical (50%) HP:0003457
11 short stature typical (50%) HP:0004322
12 delayed skeletal maturation occasional (7.5%) HP:0002750
13 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
14 microcephaly HP:0000252
15 sensorineural hearing impairment HP:0000407
16 ptosis HP:0000508
17 pigmentary retinopathy HP:0000580
18 progressive external ophthalmoplegia HP:0000590
19 dementia HP:0000726
20 sensory neuropathy HP:0000763
21 diabetes mellitus HP:0000819
22 hypoparathyroidism HP:0000829
23 seizures HP:0001250
24 ataxia HP:0001251
25 muscle weakness HP:0001324
26 mitochondrial inheritance HP:0001427
27 cardiomyopathy HP:0001638
28 third degree atrioventricular block HP:0001709
29 sideroblastic anemia HP:0001924
30 renal tubular acidosis HP:0001947
31 renal fanconi syndrome HP:0001994
32 basal ganglia calcification HP:0002135
33 increased csf protein HP:0002922
34 lactic acidosis HP:0003128
35 ragged-red muscle fibers HP:0003200
36 short stature HP:0004322
37 primary adrenal insufficiency HP:0008207

Drugs & Therapeutics for Kearns-Sayre Syndrome

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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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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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MalaCards organs/tissues related to Kearns-Sayre Syndrome:

31
Retina, Eye, Heart, Skeletal muscle, Brain, Spinal cord, Bone, Testes, Endothelial, Cortex, Pancreas, Thyroid, Skin

Animal Models for Kearns-Sayre Syndrome or affiliated genes

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Publications for Kearns-Sayre Syndrome

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Articles related to Kearns-Sayre Syndrome:

(show top 50)    (show all 261)
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
Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy. (9832255)
1998
23
Cochlear implantation in a patient with mitochondrial disease--Kearns-Sayre syndrome: a case report. (9042518)
1997
24
Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study. (7561952)
1995
25
Kearns-Sayre syndrome and cardiac anesthesia. (7780078)
1995
26
Anesthetic management for a patient with Kearns-Sayre syndrome. (7762859)
1995
27
Sinus dysrhythmia in Kearns-Sayre syndrome. (7517537)
1994
28
Progressive brainstem and white matter lesions in Kearns-Sayre syndrome: a case report. (7892965)
1994
29
Excess release of hypoxanthine from exercising muscle in patients with Kearns-Sayre syndrome. (8455663)
1993
30
Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence. (7683627)
1993
31
Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. (1635816)
1992
32
Kearns-Sayre syndrome--a case report. (2086479)
1990
33
Kearns-Sayre syndrome in the elderly: mitochondrial myopathy with advanced heart block. (2382624)
1990
34
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
35
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. (2556715)
1989
36
Hyperglycemic acidosis with mortality in Kearns-Sayre syndrome. (2801649)
1989
37
Kearns-Sayre syndrome and complex II deficiency. (2710360)
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
Decreased activities in mitochondrial inner membrane electron transport system in muscle from patients with Kearns-Sayre syndrome. (4087020)
1985
47
Kearns-Sayre syndrome. (7171761)
1982
48
Kearns-Sayre syndrome. A case of the complete syndrome with encephalic leukodystrophy and calcification of basal ganglia. (7341548)
1981
49
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
50
A clinical report of Kearns-Sayre syndrome with the electrophysiological evaluation. (1232696)
1975

Variations for Kearns-Sayre Syndrome

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Clinvar genetic disease variations for Kearns-Sayre Syndrome:

6
id Gene Variation 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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Search GEO for disease gene expression data for Kearns-Sayre Syndrome.

Pathways for genes affiliated with Kearns-Sayre Syndrome

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Pathways related to Kearns-Sayre Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
guanosine nucleotides de novo biosynthesis36
guanosine ribonucleotides de novo biosynthesis36
adenosine ribonucleotides de novo biosynthesis36
purine nucleotides de novo biosynthesis36
9.6MT-ATP6, RRM2B, MT-ATP8
2
Show member pathways
9.2MT-TM, MT-TY, MT-TA, MT-TL1, MT-TW, MT-TL2
39.1COX5A, MT-CO2, MT-CYB
4
Show member pathways
Alzheimers Disease36
8.5MT-CYB, MT-CO2, MT-ATP6, MT-ATP8, COX5A
5
Show member pathways
7.8MT-ATP8, MT-ND6, MT-ND5, MT-ATP6, MT-CO2, MT-CYB
6
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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Sources:
24HMDB, 43Novoseek, 12DrugBank, 49PharmGKB, 28IUPHAR
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Compounds related to Kearns-Sayre Syndrome according to GeneCards Suite gene sharing:

(show all 23)
idCompoundScoreTop Affiliating Genes
1Ubiquinol 82410.1MT-ND6, MT-ND5
2meloxicam43 1210.9COX5A, CPOX
3rrna439.8MT-CYB, MT-ATP8
4naproxen43 24 1211.7CPOX, COX5A
5didanosine43 49 1211.7MT-CO2, COX5A
6(+-)-pgf2-alpha439.6CPOX, COX5A
7txb2439.6COX5A, CPOX
8rofecoxib43 49 28 1212.5CPOX, MT-CO2, COX5A
9haem439.5COX5A, MT-CYB, CPOX
10succinate439.5MT-CYB, CPOX, COX5A
11citrate439.4MT-CO2, COX5A, CPOX
12cholic acid43 28 24 1212.4MT-CO2, MT-CYB, COX5A
13prostaglandin439.3CPOX, COX5A, MT-CO2
14heme28 24 1211.3MT-CYB, COX5A, CPOX
15hydrogen43 2410.3MT-ATP6, CPOX, MT-CYB, MT-CO2
16pgd2439.3COX5A, CPOX
17copper43 2410.1MT-CYB, COX5A, CPOX, MT-CO2
18iron43 249.9RRM2B, CPOX, MT-ND6, MT-CYB, COX5A
19alanine438.9MT-CYB, MT-ND6, CPOX, MAG, MT-ND5
20ascorbic acid43 249.8MAG, MT-CYB, COX5A
21atp43 289.4MT-ND5, MT-ATP6, COX5A, MT-CO2, MT-CYB, CPOX
22oxygen43 249.2COX5A, MT-CO2, MT-ND6, CPOX, RRM2B, MT-CYB
23nadh43 24 129.9MT-CYB, MT-ND6, COX5A, MT-ATP8, MT-ND5, MT-ATP6

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet