KSS
MCID: KRN002
MIFTS: 63

Kearns-Sayre Syndrome (KSS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Metabolic diseases, Endocrine diseases, Fetal diseases, Muscle diseases, Cardiovascular diseases categories
Download this MalaCard

Summaries for Kearns-Sayre Syndrome

About this section


Fully expand this MalaCard
NINDS:43 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 kearns sayre syndrome, is related to chronic progressive external ophthalmoplegia and myopathy, and has symptoms including retinitis pigmentosa/retinal pigmentary changes, ophthalmoplegia/ophthalmoparesis/oculomotor palsy and cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block. 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:42 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

Description from OMIM:46 530000

Aliases & Classifications for Kearns-Sayre Syndrome

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 34MeSH, 39NCIt, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Kearns-Sayre Syndrome, Aliases & Descriptions:

Name: Kearns-Sayre Syndrome 8 21 43 10 44 48 46 62
Kearns Sayre Syndrome 42 20 22
Chronic Progressive External Ophthalmoplegia with Myopathy 42 62
Kearns-Sayre Mitochondrial Cytopathy 21 62
Oculocraniosomatic Syndrome 42 62
Kss 42 21
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 42
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 42
 
Chronic Progressive External Ophthalmoplegia 62
Ophthalmoplegia Plus Syndrome 42
Ophthalmoplegia-Plus Syndrome 62
Cpeo with Ragged Red Fibers 42
Mitochondrial Myopathies 62
Mitochondrial Cytopathy 42
Cpeo with Myopathy 42
Ophthalmoplegia 10


Classifications:



Characteristics (Orphanet epidemiological data):

48
kearns-sayre syndrome:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Young adult


External Ids:

Disease Ontology8 DOID:12934
NCIt39 C84798
OMIM46 530000
MESH via Orphanet35 D007625
ICD10 via Orphanet26 H49.8
UMLS via Orphanet63 C0022541

Related Diseases for Kearns-Sayre Syndrome

About this section

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

(show top 50)    (show all 363)
idRelated DiseaseScoreTop Affiliating Genes
1chronic progressive external ophthalmoplegia31.7COX5A, CPOX
2myopathy31.3CPOX, MT-CYB, COX5A
3melas syndrome31.0MT-ND5, MT-ND6
4lactic acidosis30.9CPOX, MT-ND5, COX5A
5mitochondrial disorders30.8COX5A, MT-ND5, MT-ATP6
6merrf syndrome30.7COX5A, MT-ND5, CPOX
7parkinson's disease30.5COX5A, MT-ND5, MT-CYB
8internuclear ophthalmoplegia11.0
9ophthalmoplegia10.9
10hypoparathyroidism10.8
11diabetes mellitus10.7
12atrioventricular block10.6
13mitochondrial encephalomyopathy10.6
14encephalomyopathy10.6
15pigmentary retinopathy10.6
16autosomal dominant progressive external ophthalmoplegia10.5
17tolosa-hunt syndrome10.5
18exophthalmic ophthalmoplegia10.5
19fanconi syndrome10.5
20choroiditis10.5
21cerebritis10.5
22neuropathy10.5
23mitochondrial cardiomyopathy10.5
24dilated cardiomyopathy10.4
25pearson syndrome10.4
26primary open angle glaucoma10.4
27hypothyroidism10.4
28long qt syndrome10.4
29open-angle glaucoma10.4
30growth hormone deficiency10.4
31herpes zoster10.4
32familial visceral myopathy with external ophthalmoplegia10.4
33focal segmental glomerulosclerosis10.4
34glomerulosclerosis10.4
35herpes zoster ophthalmicus10.4
36minicore myopathy with external ophthalmoplegia10.4
37progressive supranuclear palsy10.3
38miller fisher syndrome10.3
39autosomal recessive progressive external ophthalmoplegia10.3
40visual pathway disease10.3MT-ATP6, NPTX2
41leigh disease10.3MT-ND5, MT-ATP6
42early myoclonic encephalopathy10.3MT-ND5, COX5A
43multiple sclerosis10.3
44cataract10.3
45myoclonus epilepsy10.3
46myoclonus10.3
47mitochondrial complex i deficiency10.3MT-ND5, MT-ND6
48leber hereditary optic neuropathy10.3MT-ND5, MT-CYB, MT-ND6
49meningitis10.3
50congestive heart failure10.3

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



Diseases related to kearns-sayre syndrome

Symptoms for Kearns-Sayre Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

530000

Clinical features from OMIM:

530000

Symptoms:

48 (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

About this section

Drug clinical trials:

Search ClinicalTrials for Kearns-Sayre Syndrome

Search NIH Clinical Center for Kearns-Sayre Syndrome

Genetic Tests for Kearns-Sayre Syndrome

About this section

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

About this section

MalaCards organs/tissues related to Kearns-Sayre Syndrome:

32
Retina, Eye, Heart, Skeletal muscle, Brain, Spinal cord, Bone, Testes, Endothelial, Cortex, Pancreas, Thyroid, Skin

Animal Models for Kearns-Sayre Syndrome or affiliated genes

About this section

Publications for Kearns-Sayre Syndrome

About this section

Articles related to Kearns-Sayre Syndrome:

(show top 50)    (show all 256)
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

About this section

Clinvar genetic disease variations for Kearns-Sayre Syndrome:

6
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

About this section
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

About this section

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 biosynthesis37
guanosine ribonucleotides de novo biosynthesis37
adenosine ribonucleotides de novo biosynthesis37
purine nucleotides de novo biosynthesis37
9.6RRM2B, MT-ATP6, MT-ATP8
2
Show member pathways
9.2MT-TY, MT-TL2, MT-TA, MT-TL1, MT-TW, MT-TM
39.1COX5A, MT-CO2, MT-CYB
4
Show member pathways
Alzheimers Disease37
8.5MT-CYB, MT-CO2, MT-ATP6, MT-ATP8, COX5A
5
Show member pathways
7.8MT-ND6, MT-CYB, MT-CO2, MT-ATP6, MT-ND5, MT-ATP8
6
Show member pathways
7.3RRM2B, CPOX, MT-ND6, MT-CYB, MT-CO2, MT-ATP6

Compounds for genes affiliated with Kearns-Sayre Syndrome

About this section
Sources:
24HMDB, 44Novoseek, 11DrugBank, 50PharmGKB, 28IUPHAR
See all sources

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

(show all 23)
idCompoundScoreTop Affiliating Genes
1Ubiquinol 82410.1MT-ND5, MT-ND6
2meloxicam44 1110.9COX5A, CPOX
3rrna449.8MT-CYB, MT-ATP8
4naproxen44 24 1111.7CPOX, COX5A
5didanosine44 50 1111.7COX5A, MT-CO2
6(+-)-pgf2-alpha449.6COX5A, CPOX
7txb2449.6COX5A, CPOX
8rofecoxib44 50 28 1112.5COX5A, MT-CO2, CPOX
9haem449.5CPOX, MT-CYB, COX5A
10succinate449.5CPOX, MT-CYB, COX5A
11citrate449.4COX5A, MT-CO2, CPOX
12cholic acid44 28 24 1112.4MT-CYB, MT-CO2, COX5A
13prostaglandin449.3CPOX, MT-CO2, COX5A
14heme28 24 1111.3CPOX, MT-CYB, COX5A
15hydrogen44 2410.3CPOX, MT-CYB, MT-CO2, MT-ATP6
16pgd2449.3COX5A, CPOX
17copper44 2410.1COX5A, MT-CO2, MT-CYB, CPOX
18iron44 249.9RRM2B, CPOX, MT-ND6, MT-CYB, COX5A
19alanine448.9CPOX, MT-ND6, MT-CYB, MT-ND5, MAG
20ascorbic acid44 249.8MAG, COX5A, MT-CYB
21atp44 289.4COX5A, MT-ND5, MT-ATP6, MT-CO2, MT-CYB, CPOX
22oxygen44 249.2RRM2B, CPOX, MT-ND6, MT-CYB, MT-CO2, MT-ATP6
23nadh44 24 119.9COX5A, CPOX, MT-ND6, MT-CYB, MT-CO2, MT-ATP6

GO Terms for genes affiliated with Kearns-Sayre Syndrome

About this section

Products for genes affiliated with Kearns-Sayre Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Kearns-Sayre Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet