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

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export 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: Kearns-Sayre Syndrome, also known as kearns sayre syndrome, is related to ophthalmoplegia and lactic acidosis, and has symptoms including hypothalamic-hypophyseal axis functional anomalies/hypopituitarism, ophthalmoplegia/ophthalmoparesis/oculomotor palsy and hemiplegia/diplegia/hemiparesia/limb 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.

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

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

530000

Clinical synopsis from OMIM:

530000

Symptoms:

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

Drugs & Therapeutics for Kearns-Sayre Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Kearns-Sayre Syndrome:

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

Animal Models for Kearns-Sayre Syndrome or affiliated genes

About this section

Publications for Kearns-Sayre Syndrome

About this section
Sources:
50PubMed
See all sources

Articles related to Kearns-Sayre Syndrome:

(show top 50)    (show all 252)
idTitleAuthorsYear
1
Retraction note to: kearns sayre syndrome - case report with review of literature. (23853060)
2013
2
A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome. (22875312)
2013
3
Progression of normal tension glaucoma in Kearns-Sayre syndrome over 10 years. (22004289)
2012
4
Kearns-Sayre syndrome: An unusual ophthalmic presentation. (22993469)
2012
5
Torsade de pointes in Kearns-Sayre syndrome. (22661355)
2012
6
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. (21378381)
2011
7
A novel mitochondrial DNA deletion in a Chinese girl with Kearns-Sayre syndrome. (19801695)
2009
8
Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report. (18205082)
2008
9
Three cases of Kearns-Sayre syndrome with cardiac blocks. (17468735)
2007
10
Facial anomalies in a patient with cytochrome-oxidase deficiency and subsequent Kearns-Sayre syndrome with growth hormone deficiency. (17372585)
2007
11
The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy. (17342029)
2006
12
MRI findings in an atypical case of Kearns-Sayre syndrome: a case report. (15789203)
2005
13
Deterioration of Kearns-Sayre syndrome following articaine administration for local anesthesia. (15965317)
2005
14
Kearns-Sayre syndrome: a case report and review of cardiovascular complications. (15869681)
2005
15
A case of Kearns-Sayre syndrome with the 4,977-bp common deletion associated with a novel 7,704-bp deletion. (12522683)
2002
16
Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium. (11018246)
2000
17
Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion. (10333230)
1999
18
Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. (10072053)
1999
19
Kearns Sayre syndrome initially presenting as hypomelanosis of Ito. (10532933)
1999
20
Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome. (9701704)
1998
21
Mitochondrial encephalomyopathy (Kearns-Sayre syndrome) with complete atrioventricular block: a case report. (9741743)
1998
22
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. (9619647)
1998
23
Patient with Kearns-Sayre syndrome exhibiting abnormal magnetic resonance image of the brain. (9858014)
1998
24
Kearns-Sayre syndrome and cardiac anesthesia. (7780078)
1995
25
3.1-kb deletion of mitochondrial DNA in a patient with Kearns-Sayre syndrome. (7484086)
1995
26
Mitochondrial genome analysis in Kearns-Sayre syndrome. (8629098)
1995
27
Evidence for cardioembolic stroke in a case of Kearns-Sayre syndrome. (7570754)
1995
28
Progressive brainstem and white matter lesions in Kearns-Sayre syndrome: a case report. (7892965)
1994
29
Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? (7951243)
1994
30
Excess release of hypoxanthine from exercising muscle in patients with Kearns-Sayre syndrome. (8455663)
1993
31
Endocrine dysfunction in Kearns-Sayre syndrome. (1424198)
1992
32
Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome. (2296377)
1990
33
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. (2556715)
1989
34
Hyperglycemic acidosis with mortality in Kearns-Sayre syndrome. (2801649)
1989
35
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome. (2813058)
1989
36
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. (2541333)
1989
37
Ultrastructural findings in endomyocardial biopsy of patients with Kearns-Sayre syndrome. (3192850)
1988
38
Mitochondrial function in Kearns-Sayre syndrome. (3368088)
1988
39
Deletions of mitochondrial DNA in Kearns-Sayre syndrome. (3412580)
1988
40
Mitochondrial studies in Kearns-Sayre syndrome: normal respiratory chain function with absence of a mitochondrial translation product. (3627452)
1987
41
Congestive heart failure due to mitochondrial cardiomyopathy in Kearns-Sayre syndrome. (3599796)
1987
42
Morphological changes in the skeletal muscles in a case of Kearns-Sayre syndrome. (3451087)
1987
43
Fatal metabolic acidosis, hyperglycemia, and coma after steroid therapy for Kearns-Sayre syndrome. (3703301)
1986
44
Kearns-Sayre syndrome, hypoparathyroidism, and basal ganglia calcification. (3794742)
1986
45
Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome. (3832524)
1985
46
Asymmetric septal hypertrophy in Kearns-Sayre syndrome. (6541986)
1984
47
Autosomal dominant Kearns-Sayre syndrome. (7383548)
1980
48
Familial Kearns-Sayre syndrome. (572507)
1979
49
Histopathologic features of the inner ear associated with Kearns-Sayre syndrome. (803072)
1976
50
Chronic progressive external ophthalmoplegia, pigmentary retinopathy, and heart block (Kearns-Sayre syndrome). Report of a case. (1242281)
1975

Genetic Variations for Kearns-Sayre Syndrome

About this section

Expression for genes affiliated with Kearns-Sayre Syndrome

About this section
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

About this section
Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG
See all sources

Compounds for genes affiliated with Kearns-Sayre Syndrome

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR
See all sources

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

About this section

Products for genes affiliated with Kearns-Sayre Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet