MCID: KRN002
MIFTS: 52

Kearns-Sayre Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases, Metabolic diseases, Endocrine diseases, Fetal diseases, Muscle diseases, Cardiovascular diseases

Aliases & Classifications for Kearns-Sayre Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Kearns-Sayre Syndrome:

Name: Kearns-Sayre Syndrome 10 45 22 23 46 47 12 51 36 24 65
Kss 45 22 23
Mitochondrial Cytopathy 45 65
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 45
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 45
Chronic Progressive External Ophthalmoplegia with Myopathy 45
 
Kearns-Sayre Mitochondrial Cytopathy 23
Ophthalmoplegia Plus Syndrome 45
Cpeo with Ragged Red Fibers 45
Oculocraniosomatic Syndrome 45
Mitochondrial Myopathies 65
Cpeo with Myopathy 45

Characteristics:

Orphanet epidemiological data:

51
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

HPO:

61


Classifications:



External Ids:

Disease Ontology10 DOID:12934
ICD1027 H49.81
MeSH36 D007625
NCIt42 C84798
Orphanet51 480
ICD10 via Orphanet28 H49.8
MESH via Orphanet37 D007625
UMLS via Orphanet66 C0022541
UMLS65 C0022541, C0162670, C2931928

Summaries for Kearns-Sayre Syndrome

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Genetics Home Reference:23 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).

MalaCards based summary: Kearns-Sayre Syndrome, also known as kss, is related to mitochondrial disorders and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2, and has symptoms including arrhythmia, abnormality of retinal pigmentation and ophthalmoparesis. An important gene associated with Kearns-Sayre Syndrome is MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)), and among its related pathways are purine nucleotides de novo biosynthesis and tRNA Aminoacylation. Affiliated tissues include retina, eye and skeletal muscle.

NIH Rare Diseases:45 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

NINDS:46 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.

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 244)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial disorders31.0MT-ATP6, MT-ND5, MT-ND6, MT-TL1, MT-TW
2progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 211.7
3progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 311.7
4progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 411.7
5progressive external ophthalmoplegia, autosomal recessive 111.7
6progressive external ophthalmoplegia, autosomal dominant 111.7
7myopathy11.1
8pearson syndrome10.8
9chronic progressive external ophthalmoplegia10.8
10mitochondrial complex ii deficiency10.7
11melas syndrome10.7
12endotheliitis10.7
13pancreatitis10.6
14adenoma10.6
15prostate cancer10.6
16hepatitis10.6
17heart disease10.6
18prostatitis10.6
19cerebritis10.6
20neuronitis10.6
21glioma10.6
22neuroaxonal dystrophy renal tubular acidosis10.5SDHA, SDHD
23paraganglioma and gastric stromal sarcoma10.5SDHA, SDHD
24renal hypertension10.5
25parkinson disease 6, early onset10.5MT-ND5, MT-ND6
26oral hairy leukoplakia10.5SDHA, SDHD
27colorectal cancer10.5
28myocardial infarction10.5
29lung cancer10.5
30breast cancer10.5
31obesity10.5
32multiple myeloma10.5
33leukemia10.5
34lymphoma10.5
35colitis10.5
36myeloma10.5
37sensorineural hearing loss10.5
38sarcoma10.5
39ovarian cancer10.5
40acute pancreatitis10.5
41ischemia10.5
42hyperglycemia10.5
43thyroiditis10.5
44peritonitis10.5
45choanal atresia10.5
46aneurysm10.5
47carnitine palmitoyltransferase i deficiency , muscle10.5SDHA, SDHD
48acute salpingo-oophoritis10.4SDHA, SDHAF1, SDHD
49glycogen storage disease ib10.4SDHA, SDHAF1, SDHD
50senile entropion10.4SDHA, SDHAF1, SDHD

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:

 51 (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 36)
id Description Frequency HPO Source Accession
1 arrhythmia hallmark (90%) HP:0011675
2 abnormality of retinal pigmentation hallmark (90%) HP:0007703
3 ophthalmoparesis hallmark (90%) HP:0000597
4 short stature typical (50%) HP:0004322
5 emg abnormality typical (50%) HP:0003457
6 skeletal muscle atrophy typical (50%) HP:0003202
7 incoordination typical (50%) HP:0002311
8 reduced tendon reflexes typical (50%) HP:0001315
9 muscular hypotonia typical (50%) HP:0001252
10 anterior hypopituitarism typical (50%) HP:0000830
11 hearing impairment typical (50%) HP:0000365
12 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
13 delayed skeletal maturation occasional (7.5%) HP:0002750
14 primary adrenal insufficiency HP:0008207
15 short stature HP:0004322
16 ragged-red muscle fibers HP:0003200
17 lactic acidosis HP:0003128
18 increased csf protein HP:0002922
19 basal ganglia calcification HP:0002135
20 renal fanconi syndrome HP:0001994
21 renal tubular acidosis HP:0001947
22 sideroblastic anemia HP:0001924
23 third degree atrioventricular block HP:0001709
24 cardiomyopathy HP:0001638
25 muscle weakness HP:0001324
26 ataxia HP:0001251
27 seizures HP:0001250
28 hypoparathyroidism HP:0000829
29 diabetes mellitus HP:0000819
30 sensory neuropathy HP:0000763
31 dementia HP:0000726
32 progressive external ophthalmoplegia HP:0000590
33 pigmentary retinopathy HP:0000580
34 ptosis HP:0000508
35 sensorineural hearing impairment HP:0000407
36 microcephaly HP:0000252

Drugs & Therapeutics for Kearns-Sayre Syndrome

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Drugs for Kearns-Sayre Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32360-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
2EPI-743 for Mitochondrial Respiratory Chain DiseasesActive, not recruitingNCT01370447Phase 2
3A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
4Nutritional Assessment in Mitochondrial CytopathyCompletedNCT02375438
5Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial CytopathyCompletedNCT02385565
6Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
7Natural History of Pearson SyndromeEnrolling by invitationNCT02327364

Search NIH Clinical Center for Kearns-Sayre Syndrome


Cochrane evidence based reviews: 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 Syndrome22

Anatomical Context for Kearns-Sayre Syndrome

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MalaCards organs/tissues related to Kearns-Sayre Syndrome:

33
Retina, Eye, Skeletal muscle, Heart, Brain, Spinal cord, Lung

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 264)
idTitleAuthorsYear
1
Preclinical Study of Novel Gene Silencer Pyrrole-Imidazole Polyamide Targeting Human TGF-I^1 Promoter for Hypertrophic Scars in a Common Marmoset Primate Model. (25938472)
2015
2
Congenital pulmonary airway malformation and sequestration: Two standpoints for a single condition. (25883453)
2015
3
Involvement of oxidative stress, nuclear factor kappa B and the ubiquitin proteasomal pathway in dysferlinopathy. (24846833)
2014
4
Reactive oxygen species- and DNA damage response-dependent NK cell activating ligand upregulation occurs at transcriptional levels and requires the transcriptional factor E2F1. (24913980)
2014
5
Novel role of silent information regulator 1 in myocardial ischemia. (24218438)
2013
6
Current role of immunotherapy for the treatment of prostate cancer. (24344002)
2013
7
Dasatinib-induced nephrotic-range proteinuria. (23540262)
2013
8
Diabetic retinopathy risk prediction for fundus examination using sparse learning: a cross-sectional study. (24033926)
2013
9
Cognitive-behavioral therapy for body dysmorphic disorder: a review of its efficacy. (23467711)
2013
10
Acute pericarditis: Unique comorbidity of thyrotoxic crisis with Graves' disease. (24411211)
2013
11
The influence of beliefs about health and illness on foot care in ugandan persons with diabetic foot ulcers. (24039644)
2013
12
MALDI MS imaging analysis of apolipoprotein E and lysyl oxidase-like 1 in human lens capsules affected by pseudoexfoliation syndrome. (23411028)
2013
13
Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism. (21856041)
2012
14
Very short-term lenalidomide treatment associated with durable resolution of anemia in a patient with myelodysplastic syndrome with chromosome 5q deletion. (21625998)
2012
15
Association between TaqIB polymorphism of cholesteryl ester transfer protein and coronary artery disease in the Chinese population. (22556171)
2012
16
RNA interference targeting mutant p53 inhibits growth and induces apoptosis in DU145 human prostate cancer cells. (20857345)
2011
17
Duodenal somatostatinoma: a case report and review. (21437171)
2011
18
A phase I study of adoptive immunotherapy for recurrent non-small-cell lung cancer patients with autologous gammadelta T cells. (20137969)
2010
19
Foveal function in children treated for amblyopia. (19183413)
2010
20
Impact of IDH1 R132 mutations and an IDH1 single nucleotide polymorphism in cytogenetically normal acute myeloid leukemia: SNP rs11554137 is an adverse prognostic factor. (20368538)
2010
21
Differential modulation of TCF/LEF-1 activity by the soluble LRP6-ICD. (20676368)
2010
22
Growth inhibition mediated by PSP94 or CRISP-3 is prostate cancer cell line specific. (20676114)
2010
23
HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The hemochromatosis and iron overload screening study. (20031565)
2009
24
Idiopathic plasmacytic lymphadenopathy with polyclonal hypergammaglobulinemia accompanied with cutaneous involvement and renal dysfunction. (19586961)
2009
25
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. (19293842)
2009
26
Instrumented slip reduction and fusion for painful unstable isthmic spondylolisthesis in adults. (18836358)
2008
27
Glycemic and lipid responses to glucomannan in Thais with type 2 diabetes mellitus. (18041436)
2007
28
Effects of APOE and CHRNA4 genotypes on retinal nerve fibre layer thickness at the optic disc and on risk for developing exfoliation syndrome. (17488453)
2007
29
Messenger RNA levels of genes involved in dysregulation of postprandial lipoproteins in type 2 diabetes: the role of Niemann-Pick C1-like 1, ATP-binding cassette, transporters G5 and G8, and of microsomal triglyceride transfer protein. (16518588)
2006
30
Osteoporosis and diabetes]. (15643475)
2004
31
Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. (12913074)
2003
32
Downregulation of KAI1 mRNA in localised prostate cancer and its bony metastases does not correlate with p53 overexpression. (12806379)
2003
33
Bacterial DNA activates human neutrophils by a CpG-independent pathway. (14579285)
2003
34
Irinotecan in non-small-cell lung cancer: status of ongoing trials. (14659036)
2002
35
Osteoporosis: a review. (11816351)
2002
36
Is the molecular composition of K(ATP) channels more complex than originally thought? (11448141)
2001
37
Cleavage of Bcl-2 in oxidant- and cisplatin-induced apoptosis of human melanoma cells. (11494156)
2001
38
Follicle-stimulating hormone promotes the growth of human epithelial ovarian cancer cells through the protein kinase C-mediated system. (11311494)
2001
39
Recurrent respiratory papillomatosis. (10851821)
2000
40
Xanthomatous changes in atypical and anaplastic meningiomas. Light and electron microscopic investigations. (11043974)
2000
41
Apoptosis-induced by TRAIL AND TNF-alpha in human multiple myeloma cells is not blocked by BCL-2. (10623426)
1999
42
Evaluation of cytarabine-induced apoptosis in leukemic cell lines; utility of annexin V method]. (10511810)
1999
43
Involution rate of multicystic renal dysplasia. (9832601)
1998
44
d-fenfluramine-induced prolactin responses in mania: evidence for serotonergic subsensitivity. (8890681)
1996
45
Different in situ expression of insulin-like growth factor type II in hepatocellular carcinoma. An in situ hybridization and immunohistochemical study. (8162257)
1994
46
The metabolic effects of limbic leucotomy in Gilles de la Tourette syndrome. (8410025)
1993
47
Long-term treatment in infantile choriocarcinoma. (1580153)
1992
48
Macular amyloidosis, notalgia paresthetica and pruritus: three sides of the same coin? (1769418)
1991
49
Recurrence of hyperprolactinemia after selective transsphenoidal adenomectomy in women with prolactinoma. (6866052)
1983
50
Case report. Sturge Weber syndrome with cystic disease of lung and other congenital malformations. (721170)
1978

Variations for Kearns-Sayre Syndrome

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Clinvar genetic disease variations for Kearns-Sayre Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MT-TANC_012920.1: m.5631G> Asingle nucleotide variantPathogenicrs786200950GRCh37Chr MT, 5631: 5631
2MT-TANC_012920.1: m.5610G> Asingle nucleotide variantPathogenicrs786200951GRCh37Chr MT, 5610: 5610
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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GO Terms for genes affiliated with Kearns-Sayre Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial ATP synthesis coupled proton transportGO:004277610.4MT-ATP6, MT-ATP8
2ATP synthesis coupled proton transportGO:001598610.0MT-ATP6, MT-ATP8
3response to copper ionGO:00466889.5MT-CO1, MT-CYB
4hydrogen ion transmembrane transportGO:19026009.2MT-CO1, MT-CO2, MT-CYB

Sources for Kearns-Sayre Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet