MCID: KRN002
MIFTS: 53

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, heart and eye.

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 99)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial disorders30.4MT-ATP6, MT-ND5, MT-ND6, MT-TL1, MT-TW
2progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 211.3
3progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 311.3
4progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 411.3
5progressive external ophthalmoplegia, autosomal recessive 111.3
6progressive external ophthalmoplegia, autosomal dominant 111.3
7chronic progressive external ophthalmoplegia11.1
8myopathy11.0
9neuroaxonal dystrophy renal tubular acidosis10.8SDHA, SDHD
10paraganglioma and gastric stromal sarcoma10.8SDHA, SDHD
11parkinson disease 6, early onset10.7MT-ND5, MT-ND6
12oral hairy leukoplakia10.7SDHA, SDHD
13carnitine palmitoyltransferase i deficiency , muscle10.7SDHA, SDHD
14ophthalmoplegia10.7
15acute salpingo-oophoritis10.7SDHA, SDHAF1, SDHD
16glycogen storage disease ib10.7SDHA, SDHAF1, SDHD
17senile entropion10.7SDHA, SDHAF1, SDHD
18visual epilepsy10.6MT-ND5, MT-ND6
19malignant mixed epithelial mesenchymal tumor of ovary10.6MT-TL1, MT-TL2
20hypoparathyroidism10.6
21gemistocytic astrocytoma10.6MT-ATP6, MT-ND5, MT-ND6
22progressive myoclonus epilepsy10.6MT-CYB, MT-ND5, MT-ND6
23cardiomyopathy10.6
24intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome10.5MT-ATP6, MT-ATP8
25heritable pulmonary arterial hypertension10.5SDHA, SDHD
26olfactory nerve neoplasm10.5MT-ATP6, MT-ND5, MT-ND6
27lepre1-related osteogenesis imperfecta10.5MT-ATP6, MT-ATP8
28pearson syndrome10.4
29cardiomyopathy, hypertrophic 610.4MT-CYB, MT-ND5
30atrioventricular block10.4
31cerebritis10.4
32mitochondrial encephalomyopathy10.4
33encephalomyopathy10.4
34mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia10.4MT-ATP6, MT-ATP8
35ptosis10.4
36cheek mucosa cancer10.3MT-ATP6, MT-CYB, MT-ND5, MT-ND6
37dilated cardiomyopathy10.3
38fanconi syndrome10.3
39choroiditis10.3
40neuropathy10.3
41mitochondrial cardiomyopathy10.3
42mitochondrial complex ii deficiency10.3
43melas syndrome10.3
44basal ganglia calcification10.2
45open-angle glaucoma10.2
46hypothyroidism10.2
47long qt syndrome10.2
48cerebral folate deficiency10.2
49growth hormone deficiency10.2
50encephalopathy10.2

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

UMLS symptoms related to Kearns-Sayre Syndrome:


myalgia, muscle weakness, muscle spasticity, muscle rigidity, muscle cramp, congenital visual acuity reduced, blurred vision, metamorphopsia, sudden visual loss, photopsia, seizures, ophthalmoplegia, cerebellar ataxia

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, Heart, Eye, Brain, Skeletal muscle, Spinal cord, Thyroid

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 270)
idTitleAuthorsYear
1
Dilated cardiomyopathy with cardiogenic shock in a child with Kearns-Sayre syndrome. (26884075)
2016
2
Retraction note to: kearns sayre syndrome - case report with review of literature. (23853060)
2013
3
Progression of normal tension glaucoma in Kearns-Sayre syndrome over 10 years. (22004289)
2012
4
Kearns Sayre Syndrome (KSS) - A Rare Cause For Cardiac Pacing. (21346823)
2011
5
Choroid plexus failure in the Kearns-Sayre syndrome. (20731822)
2010
6
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. (20388557)
2010
7
Anesthetic considerations in a teenager with advanced symptoms of Kearns-Sayre syndrome. (19645998)
2009
8
De Toni-DebrAc-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report. (19946579)
2009
9
Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report. (18205082)
2008
10
Cochlear implantation results in patients with Kearns-Sayre syndrome. (18382375)
2008
11
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. (17720198)
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:

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