KSS
MCID: KRN002
MIFTS: 59

Kearns-Sayre Syndrome (KSS) malady

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

Summaries for Kearns-Sayre Syndrome

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42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 46OMIM, 32MalaCards
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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: Kearns-Sayre Syndrome, also known as kearns sayre syndrome, is related to ophthalmoplegia and lactic acidosis, and has symptoms including delayed bone age, hemiplegia/diplegia/hemiparesia/limb palsy and ophthalmoplegia/ophthalmoparesis/oculomotor palsy. 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 eye, retina and heart.

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

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:46 530000

Aliases & Classifications for Kearns-Sayre Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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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


Aliases & Descriptions:

kearns-sayre syndrome 8 21 43 10 44 48 46 60
kearns sayre syndrome 42 20 22
kss 42 21
chronic progressive external ophthalmoplegia with myopathy 42
chronic progressive external ophthalmoplegia 60
kearns-sayre mitochondrial cytopathy 21
cpeo with ragged red fibers 42
mitochondrial myopathies 60
mitochondrial cytopathy 42
cpeo with myopathy 42


External Ids:

Disease Ontology8 DOID:12934
OMIM46 530000
NCIt39 C84798
MESH via Orphanet35 D007625
ICD10 via Orphanet26 H49.8
SNOMED-CT via Orphanet57 25792000, 51464001, 77835008
UMLS via Orphanet61 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 149)
idRelated DiseaseScoreTop Affiliating Genes
1ophthalmoplegia31.2ATXN7
2lactic acidosis31.1CPOX, MT-ND5, COX5A
3chronic progressive external ophthalmoplegia31.0RRM2B
4myopathy31.0CPOX, MT-CYB, COX5A
5neuropathy30.7MAG, NPTX2
6melas syndrome30.5MT-ND5, MT-ND6
7mitochondrial disorders30.5MT-ND5, MT-ATP6, COX5A
8optic neuritis30.3MAG
9merrf syndrome30.3COX5A, MT-ND5, CPOX
10multiple sclerosis30.3MAG, COX5A
11mitochondrial complex ii deficiency29.9SDHAF1
12mitochondrial complex i deficiency29.9MT-ND5, MT-ND6
13mitochondrial dna deletion syndromes11.0
14hypoparathyroidism10.7
15diabetes mellitus10.6
16atrioventricular block10.6
17mitochondrial encephalomyopathy10.6
18cerebritis10.5
19glaucoma10.5
20choroiditis10.5
21fanconi syndrome10.5
22image syndrome10.5
23strabismus10.5
24adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.5
25sideroblastic anemia and mitochondrial myopathy10.4
26pearson syndrome10.4
27primary open angle glaucoma10.4
28adult syndrome10.4
29dilated cardiomyopathy10.4
30hypothyroidism10.4
31long qt syndrome10.4
32open-angle glaucoma10.4
33maternally-inherited progressive external ophthalmoplegia10.4
34focal segmental glomerulosclerosis10.3
35focal glomerulosclerosis10.3
36mitochondrial myopathy with diabetes10.3
37melas, mt-th-related10.3
38mitochondrial myopathy and sideroblastic anemia 110.3
39mitochondrial myopathy - lactic acidosis - deafness10.3
40lethal infantile mitochondrial myopathy10.3
41mitral valve prolapse10.2
42autoimmune thyroiditis10.2
43sensorineural hearing loss10.2
44radiculopathy10.2
45conduct disorder10.2
46cochlear disease10.2
47vitelliform macular dystrophy10.2
48renal tubular acidosis10.2
49metabolic acidosis10.2
50addison's disease10.2

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



Diseases related to kearns-sayre syndrome

Clinical Features for Kearns-Sayre Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

530000

Clinical synopsis from OMIM:

530000

Symptoms:

48 (show all 14)
  • delayed bone age
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • 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
  • retinitis pigmentosa/retinal pigmentary changes

Drugs & Therapeutics for Kearns-Sayre Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Kearns-Sayre Syndrome

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Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Kearns-Sayre Syndrome:

32
Eye, Retina, Heart, Skeletal muscle, Brain, Spinal cord, Bone, Cortex, Testes, 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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50PubMed
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Articles related to Kearns-Sayre Syndrome:

(show top 50)    (show all 252)
idTitleAuthorsYear
1
Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome. (23087375)
2013
2
Choroid plexus failure in the Kearns-Sayre syndrome. (20731822)
2010
3
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. (20388557)
2010
4
Anesthetic considerations in a teenager with advanced symptoms of Kearns-Sayre syndrome. (19645998)
2009
5
Progression of conduction system disease in a paced patient with Kearns-Sayre syndrome. (19306361)
2009
6
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. (17720198)
2008
7
Kearns Sayre syndrome: an unusual form of mitochondrial diabetes. (16735969)
2006
8
Kearns-Sayre syndrome, compensated hypothyroidism and complete atrio-ventricular block. (17215799)
2006
9
Kearns-Sayre syndrome -3 case reports and review of clinical feature. (15344217)
2004
10
Anesthetic management for cardioverter-defibrillator implantation in a patient with Kearns-Sayre syndrome. (15590260)
2004
11
Bilateral spontaneous corneal perforation associated with complete external ophthalmoplegia in mitochondrial myopathy (kearns-sayre syndrome). (12658098)
2003
12
Kearns-Sayre syndrome: association with long QT syndrome? (11900295)
2002
13
Aplastic anaemia in association with Kearns-Sayre syndrome. (10070624)
1999
14
Unusual presentation of Kearns-Sayre syndrome in early childhood. (10593676)
1999
15
MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review. (10552027)
1999
16
Kearns-Sayre syndrome. A case report. (9677732)
1998
17
A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up. (9667787)
1998
18
A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples. (9168163)
1997
19
Zidovudine and dideoxynucleosides deplete wild-type mitochondrial DNA levels and increase deleted mitochondrial DNA levels in cultured Kearns-Sayre syndrome fibroblasts. (8634344)
1996
20
Duplications of mitochondrial DNA in Kearns-Sayre syndrome. (7603518)
1995
21
Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome. (7556992)
1995
22
MRI in a case of Kearns-Sayre syndrome confirmed by molecular analysis. (8107995)
1994
23
Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder. (8151637)
1994
24
Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence. (7683627)
1993
25
A case of Kearns-Sayre syndrome with metaphyseal dysplasia. (8516029)
1993
26
Manometric characteristics of cervical dysphagia in a patient with the Kearns-Sayre syndrome. (1397892)
1992
27
Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations. (1407387)
1992
28
Mitochondrial DNA deletion diagnosed by analysis of an endomyocardial biopsy specimen from a patient with Kearns-Sayre syndrome and complete heart block. (1449926)
1992
29
Detection of deletions in platelet mitochondrial DNA in Kearns-Sayre syndrome using polymerase chain reaction]. (1950835)
1991
30
Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy. (2011107)
1991
31
Kearns-Sayre syndrome--a case report. (2086479)
1990
32
Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome. (2161456)
1990
33
Kearns-sayre syndrome. Two clinico-pathological cases. (2359483)
1990
34
Neuropathology in Kearns-Sayre syndrome. (2251912)
1990
35
Kearns-Sayre syndrome. (1688324)
1990
36
Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues. (2376752)
1990
37
Kearns-Sayre syndrome and primary open-angle glaucoma. (2774047)
1989
38
Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscle. (2556504)
1989
39
Kearns-Sayre syndrome. (2534699)
1989
40
Reversible ischemic neurologic deficit in a patient with the Kearns-Sayre syndrome. (3363584)
1988
41
Myocardial ultrastructure in Kearns-Sayre syndrome. (3813120)
1987
42
Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues. (3037990)
1987
43
Cardiac involvement in the Kearns-Sayre syndrome. (3618501)
1987
44
Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome. (3974895)
1985
45
Kearns-Sayre syndrome. (7171761)
1982
46
The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study. (7162786)
1982
47
Correction of increased plasma pyruvate and plasma lactate levels using large doses of thiamine in patients with Kearns-Sayre syndrome. (7247778)
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
Radiculoneuropathy as a component of the Kearns-Sayre syndrome. (757053)
1978
50
Kearns-Sayre syndrome and hypoparathyroidism. (727727)
1978

Genetic Variations for Kearns-Sayre Syndrome

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Expression for genes affiliated with Kearns-Sayre Syndrome

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

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Pathways for genes affiliated with Kearns-Sayre Syndrome

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37NCBI BioSystems Database, 53Reactome, 29KEGG
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Compounds for genes affiliated with Kearns-Sayre Syndrome

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR
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Compounds related to Kearns-Sayre Syndrome according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1meloxicam44 1111.0CPOX, COX5A
2naproxen44 11 2411.9CPOX, COX5A
3didanosine44 1110.9COX5A, MT-CO2
4iron-sulfur449.7SDHA, MT-CYB
5N-Formylmethionine119.7MT-CO2, COX5A
6rofecoxib44 49 28 1112.7COX5A, MT-CO2, CPOX
7(+-)-pgf2-alpha449.7COX5A, CPOX
8haem449.7CPOX, MT-CYB, COX5A
9citrate449.6CPOX, MT-CO2, COX5A
10cholic acid44 28 11 2412.6COX5A, MT-CO2, MT-CYB
11hydrogen44 2410.4CPOX, MT-CYB, MT-ATP6, MT-CO2
12copper44 2410.4CPOX, MT-CYB, MT-CO2, COX5A
13prostaglandin449.3CPOX, MT-CO2, COX5A
14succinate449.3SDHA, CPOX, MT-CYB, COX5A
15heme28 11 2411.1CPOX, MT-CYB, COX5A
16alanine449.0MT-ND6, MT-CYB, MT-ND5, MAG, CPOX
17iron44 249.8COX5A, MT-ND6, MT-CYB, RRM2B, CPOX, SDHA
18atp44 289.8COX5A, MT-CO2, MT-ATP6, MT-CYB, MT-ND5, CPOX
19oxygen44 249.3COX5A, MT-ND6, MT-CO2, MT-ATP6, MT-CYB, RRM2B
20nadh44 11 2410.0SDHA, COX5A, MT-ND6, MT-CO2, MT-ATP6, MT-CYB

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet