MCID: KRN002
MIFTS: 60

Kearns-Sayre Syndrome

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

Aliases & Classifications for Kearns-Sayre Syndrome

MalaCards integrated aliases for Kearns-Sayre Syndrome:

Name: Kearns-Sayre Syndrome 57 12 53 25 54 59 37 55 44 15 40 73
Mitochondrial Cytopathy 57 53 6 73
Ophthalmoplegia 12 29 44 15
Kss 57 53 25
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 57 53
Chronic Progressive External Ophthalmoplegia with Myopathy 57 53
Oculocraniosomatic Syndrome 57 53
Total Ophthalmoplegia 12 73
Kearns Sayre Syndrome 29 6
Cpeo with Myopathy 57 53
Ophthalmoplegia, Progressive External, with Ragged-Red Fibers 57
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 53
Kearns-Sayre Mitochondrial Cytopathy 25
Ophthalmoplegia-Plus Syndrome 57
Ophthalmoplegia Plus Syndrome 53
Cpeo with Ragged-Red Fibers 57
Cpeo with Ragged Red Fibers 53
Mitochondrial Myopathies 73
Oculomotor Paralysis 12

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Miscellaneous:
most cases are sporadic
onset before age 20
single mitochondrial dna deletions are found in sporadic kss patients
some pedigrees are consistent with autosomal dominant inheritance
multiple mitochondrial dna deletions are found in autosomal dominant pedigrees

Inheritance:
mitochondrial


HPO:

32
kearns-sayre syndrome:
Inheritance mitochondrial inheritance


Classifications:



Summaries for Kearns-Sayre Syndrome

Genetics Home Reference : 25 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 mitochondrial cytopathy, is related to pearson marrow-pancreas syndrome and chronic progressive external ophthalmoplegia, and has symptoms including cerebellar ataxia, seizures and muscle weakness. An important gene associated with Kearns-Sayre Syndrome is MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)), and among its related pathways/superpathways are Oxidative phosphorylation and Cardiac muscle contraction. The drugs Cysteamine and Ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and heart, and related phenotypes are ataxia and muscular hypotonia

NIH Rare Diseases : 53 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.

NINDS : 54 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.

Wikipedia : 76 Kearns–Sayre syndrome (KSS) is a mitochondrial myopathy with a typical onset before 20 years of age. KSS... more...

Description from OMIM: 530000

Related Diseases for Kearns-Sayre Syndrome

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

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 pearson marrow-pancreas syndrome 33.3 MT-CO2 MT-TK
2 chronic progressive external ophthalmoplegia 32.4 COX5A MT-TK POLG SLC25A4 TYMP
3 myopathy 31.8 MT-ATP6 MT-CO1 MT-CO2 MT-CYB MT-ND5 MT-ND6
4 encephalomyopathy 31.4 MT-CYB MT-ND5 MT-ND6 TYMP
5 mitochondrial complex iv deficiency 31.4 COX5A MT-CO1 MT-CO2 MT-TL1
6 mitochondrial metabolism disease 30.9 MT-ATP6 MT-ND5 MT-ND6 MT-TK
7 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.8 MT-ATP6 MT-CO1 MT-CO2 MT-ND5 MT-ND6 MT-TK
8 mitochondrial myopathy 30.7 COX5A MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CYB
9 mitochondrial encephalomyopathy 30.6 MT-CO1 MT-CO2 MT-CYB MT-ND5 MT-ND6 MT-TK
10 peripheral nervous system disease 30.0 KIF21A MAG MT-ND6 POLG TUBB3
11 ptosis 29.9 KIF21A PHOX2A POLG TUBB3 TYMP
12 mitochondrial disorders 27.5 COX5A MT-ATP6 MT-CO2 MT-ND5 MT-ND6 MT-TK
13 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.6
14 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.6
15 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.6
16 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.6
17 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.3
18 mitochondrial complex ii deficiency 11.3
19 cerebral atrophy 11.3
20 mitochondrial myopathy, infantile, transient 11.0 MT-CYB MT-ND6
21 parkinson disease, mitochondrial 10.9 MT-CYB MT-ND6
22 myiasis 10.9 MT-CO1 MT-ND5
23 sparganosis 10.9 MT-CO1 MT-CYB
24 periodic paralysis with later-onset distal motor neuropathy 10.9 MT-ATP6 MT-ATP8
25 ophthalmoplegia totalis with ptosis and miosis 10.9
26 lesch-nyhan syndrome 10.9
27 acquired idiopathic sideroblastic anemia 10.9 COX5A MT-CO1
28 parkinson disease 6, autosomal recessive early-onset 10.9 MT-CYB MT-ND5 MT-ND6
29 myoglobinuria, recurrent 10.9 COX5A MT-CO1 MT-CO2
30 parasitic protozoa infectious disease 10.9 MT-CO1 MT-CO2 MT-CYB
31 isolated atp synthase deficiency 10.8 MT-ATP6 MT-ATP8
32 amelogenesis imperfecta, type iv 10.8 MT-CO1 MT-CYB
33 camptocormism 10.8 POLG RRM2B
34 diabetes and deafness, maternally inherited 10.8 MT-TK MT-TL1
35 cardiomyopathy, infantile hypertrophic 10.8 MT-ATP6 MT-ATP8 MT-CO2
36 maternally-inherited progressive external ophthalmoplegia 10.8 MT-TL1 POLG
37 striatonigral degeneration, infantile, mitochondrial 10.8 MT-ATP6 MT-ATP8
38 myopathy, lactic acidosis, and sideroblastic anemia 3 10.7 MT-ATP6 MT-ATP8
39 mitochondrial complex v deficiency 10.7 MT-ATP6 MT-ATP8
40 mitochondrial neurogastrointestinal encephalopathy disease 10.7 POLG TYMP
41 striatonigral degeneration, infantile 10.7 MT-ATP6 MT-ATP8
42 early myoclonic encephalopathy 10.6 COX5A MT-ND5 MT-TK
43 sideroblastic anemia acquired 10.6 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2
44 myopathy, lactic acidosis, and sideroblastic anemia 10.6 MT-ATP6 MT-ATP8 MT-TK
45 ataxia and polyneuropathy, adult-onset 10.6 MT-ATP6 MT-ATP8
46 paralytic ileus 10.6 MT-TK TYMP
47 diphyllobothriasis 10.6 MT-ATP8 MT-CO1 MT-ND5 MT-TL1
48 intestinal pseudo-obstruction 10.5 ATXN7 MT-TL1 TYMP
49 polyneuropathy 10.5 MAG MT-ATP6 TUBB3
50 hypoparathyroidism 10.5

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



Diseases related to Kearns-Sayre Syndrome

Symptoms & Phenotypes for Kearns-Sayre Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
progressive external ophthalmoplegia
pigmentary retinopathy

Neurologic Central Nervous System:
seizures
sensory neuropathy
dementia
cerebellar ataxia
basal ganglia calcifications
more
Head And Neck Head:
microcephaly

Cardiovascular Heart:
cardiomyopathy
cardiac conduction defects
complete heart block

Laboratory Abnormalities:
lactic acidosis
increased cerebrospinal fluid (csf) protein (>100mg/dl)
decreased cerebrospinal fluid folic acid
decreased serum and muscle coenzyme q
mitochondrial dna deletions

Head And Neck Ears:
sensorineural hearing loss

Endocrine Features:
diabetes mellitus
hypoparathyroidism
addison disease

Muscle Soft Tissue:
muscle weakness
ragged-red fibers seen on muscle biopsy

Growth Height:
short stature

Metabolic Features:
lactic acidosis

Genitourinary Kidneys:
renal tubular acidosis
fanconi syndrome

Hematology:
sideroblastic anemia


Clinical features from OMIM:

530000

Human phenotypes related to Kearns-Sayre Syndrome:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
2 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
3 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
4 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
5 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
6 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
7 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
8 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
9 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
10 anterior hypopituitarism 59 32 frequent (33%) Frequent (79-30%) HP:0000830
11 ragged-red muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003200
12 progressive external ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000590
13 third degree atrioventricular block 59 32 hallmark (90%) Very frequent (99-80%) HP:0001709
14 progressive intervertebral space narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004622
15 ptosis 32 HP:0000508
16 diabetes mellitus 32 HP:0000819
17 seizures 32 HP:0001250
18 muscle weakness 32 HP:0001324
19 microcephaly 32 HP:0000252
20 sensorineural hearing impairment 32 HP:0000407
21 short stature 32 HP:0004322
22 sensory neuropathy 32 HP:0000763
23 cardiomyopathy 32 HP:0001638
24 hypoparathyroidism 32 HP:0000829
25 lactic acidosis 32 HP:0003128
26 primary adrenal insufficiency 32 HP:0008207
27 dementia 32 HP:0000726
28 increased csf protein 32 HP:0002922
29 pigmentary retinopathy 32 HP:0000580
30 renal tubular acidosis 32 HP:0001947
31 renal fanconi syndrome 32 HP:0001994
32 basal ganglia calcification 32 HP:0002135
33 sideroblastic anemia 32 HP:0001924

UMLS symptoms related to Kearns-Sayre Syndrome:


cerebellar ataxia, seizures, muscle weakness, ophthalmoplegia, muscle cramp, muscle rigidity, muscle spasticity, myalgia

Drugs & Therapeutics for Kearns-Sayre Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
2 Ubiquinone

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
2 A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
3 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565 Not Applicable
4 Nutritional Assessment in Mitochondrial Cytopathy Completed NCT02375438
5 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
6 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
7 Natural History of Pearson Syndrome Enrolling by invitation NCT02327364

Search NIH Clinical Center for Kearns-Sayre Syndrome

Cochrane evidence based reviews: ophthalmoplegia

Genetic Tests for Kearns-Sayre Syndrome

Genetic tests related to Kearns-Sayre Syndrome:

# Genetic test Affiliating Genes
1 Kearns Sayre Syndrome 29
2 Ophthalmoplegia 29

Anatomical Context for Kearns-Sayre Syndrome

MalaCards organs/tissues related to Kearns-Sayre Syndrome:

41
Eye, Retina, Heart, Skeletal Muscle, Brain, Spinal Cord, Testes

Publications for Kearns-Sayre Syndrome

Articles related to Kearns-Sayre Syndrome:

(show top 50) (show all 298)
# Title Authors Year
1
Kearns-Sayre syndrome is genetically and phenotypically heterogeneous. ( 29871478 )
2018
2
Kearns Sayre Syndrome ( 29493966 )
2018
3
Anesthetic management of a parturient with Kearns-Sayre syndrome, dual-chamber and VVI implantable defibrillator pacemaker/defibrillator, and preeclampsia for cesarean delivery: A case report and review of the literature. ( 29416473 )
2018
4
Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy? ( 29502391 )
2017
5
Kearns-Sayre syndrome: Absence of clinical response to treatment with oral folinic acid. ( 28318733 )
2017
6
Kearns-Sayre syndrome in the absence of a mtDNA deletion? ( 29124809 )
2017
7
Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns-Sayre syndrome. ( 28702261 )
2017
8
Kearns Sayre Syndrome: Looking beyond A-V conduction. ( 29073001 )
2017
9
Folinic acid is ineffective for treating kearns-sayre syndrome. ( 28712837 )
2017
10
Reprint of: Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. ( 27038137 )
2016
11
Corneal Involvement in Kearns-Sayre Syndrome Responsive to Coenzyme-Q? ( 27741019 )
2016
12
Dilated cardiomyopathy with cardiogenic shock in a child with Kearns-Sayre syndrome. ( 26884075 )
2016
13
Peripheral Nerve Block is Safely Administered in a Patient with Kearns-Sayre Syndrome. ( 27174339 )
2016
14
A rare case of Kearns-Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation. ( 26949540 )
2016
15
Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome. ( 27270536 )
2016
16
Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation. ( 27625108 )
2016
17
Diagnosis of Kearns-Sayre Syndrome Requires Comprehensive Work-up. ( 27748353 )
2016
18
Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience. ( 27718492 )
2016
19
Histopathological comparison of Kearns-Sayre syndrome and PGC-1I+-deficient mice suggests a novel concept for vacuole formation in mitochondrial encephalopathy. ( 27179217 )
2016
20
Diagnose Kearns-Sayre syndrome genetically and investigate the phenotype comprehensively. ( 29497555 )
2016
21
Diagnosis and Management of Kearns-Sayre Syndrome Rely on Comprehensive Clinical Evaluation. ( 27748354 )
2016
22
Classical triad of Kearns-Sayre syndrome. ( 27389730 )
2016
23
NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME. ( 28296806 )
2016
24
Kearns-Sayre Syndrome Is a Rare Cause of Diabetes. ( 26680557 )
2016
25
A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review. ( 27709644 )
2016
26
Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension. ( 25798394 )
2015
27
Bilateral lid/brow elevation procedure for severe ptosis in Kearns-Sayre syndrome, a mitochondrial cytopathy. ( 25565765 )
2015
28
Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. ( 25540845 )
2015
29
DEVELOPMENT OF CHRONIC SUBRETINAL FLUID IN KEARNS-SAYRE SYNDROME. ( 26536013 )
2015
30
Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. ( 25732757 )
2015
31
Diabetes in pediatric patients with Kearns-Sayre syndrome: clinical presentation of 2 cases and a review of pathophysiology. ( 25092642 )
2014
32
Descemet membrane endothelial keratoplasty in a child with corneal endothelial dysfunction in kearns-sayre syndrome. ( 25211357 )
2014
33
Obstetric anesthesia considerations in Kearns-Sayre syndrome: a case report. ( 25368789 )
2014
34
A Case Report of Complete Heart Block in an Uncommon Disease Entity: Kearns Sayre Syndrome. ( 26281482 )
2014
35
Kearns-Sayre syndrome: a case series of 35 adults and children. ( 25061332 )
2014
36
New gout test: enhanced ex vivo cytokine production from PBMCS in common gout patients and a gout patient with Kearns-Sayre syndrome. ( 24760192 )
2014
37
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. ( 25539952 )
2014
38
Kearns-Sayre syndrome presenting as isolated growth failure. ( 23420719 )
2013
39
Retraction note to: kearns sayre syndrome - case report with review of literature. ( 23853060 )
2013
40
Natural history of conduction abnormalities in a patient with Kearns-Sayre syndrome. ( 22614904 )
2013
41
Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome. ( 23087375 )
2013
42
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
43
Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. ( 23947115 )
2013
44
Phylogenetic analysis of mitochondrial DNA in a patient with Kearns- Sayre syndrome containing a novel 7629-bp deletion. ( 23391298 )
2013
45
A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment. ( 23421922 )
2013
46
Hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report. ( 24665319 )
2013
47
Torsade de pointes in Kearns-Sayre syndrome. ( 22661355 )
2012
48
Loss of myelin-associated glycoprotein in kearns-sayre syndrome. ( 22491194 )
2012
49
Symptomatic complete heart block leading to a diagnosis of Kearns-Sayre syndrome. ( 23102393 )
2012
50
Kearns Sayre Syndrome--case report with review of literature. ( 22231766 )
2012

Variations for Kearns-Sayre Syndrome

ClinVar genetic disease variations for Kearns-Sayre Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TL1 m.3249G> A single nucleotide variant Pathogenic rs199474667 GRCh37 Chromosome MT, 3249: 3249
2 MT-TL1 m.3249G> A single nucleotide variant Pathogenic rs199474667 GRCh38 Chromosome MT, 3249: 3249
3 MT-TY m.5888delT deletion Pathogenic rs118203892 GRCh37 Chromosome MT, 5888: 5888
4 MT-TY m.5888delT deletion Pathogenic rs118203892 GRCh38 Chromosome MT, 5888: 5888
5 MT-TY m.5877C> T single nucleotide variant Pathogenic rs118203893 GRCh37 Chromosome MT, 5877: 5877
6 MT-TY m.5877C> T single nucleotide variant Pathogenic rs118203893 GRCh38 Chromosome MT, 5877: 5877
7 MT-ND6 NC_012920.1: m.14563C> T single nucleotide variant Uncertain significance rs1057516069 GRCh37 Chromosome MT, 14563: 14563
8 MT-ND6 NC_012920.1: m.14563C> T single nucleotide variant Uncertain significance rs1057516069 GRCh38 Chromosome MT, 14563: 14563
9 MT-CYB NC_012920.1: m.14854C> T single nucleotide variant Uncertain significance rs1057516071 GRCh37 Chromosome MT, 14854: 14854
10 MT-CYB NC_012920.1: m.14854C> T single nucleotide variant Uncertain significance rs1057516071 GRCh38 Chromosome MT, 14854: 14854

Expression for Kearns-Sayre Syndrome

Search GEO for disease gene expression data for Kearns-Sayre Syndrome.

Pathways for Kearns-Sayre Syndrome

Pathways related to Kearns-Sayre Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190
2 Cardiac muscle contraction hsa04260

GO Terms for Kearns-Sayre Syndrome

Cellular components related to Kearns-Sayre Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.85 COX5A MT-ATP8 MT-CO1 MT-CO2 MT-CYB MT-ND5
2 myelin sheath GO:0043209 9.63 COX5A MAG SLC25A4
3 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.43 MT-ATP6 MT-ATP8
4 mitochondrial respiratory chain complex IV GO:0005751 9.43 COX5A MT-CO1 MT-CO2
5 mitochondrial respiratory chain complex III GO:0005750 9.4 MT-CO1 MT-CYB
6 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP6 MT-ATP8
7 respiratory chain GO:0070469 9.35 MT-CO1 MT-CO2 MT-CYB MT-ND5 MT-ND6
8 respiratory chain complex IV GO:0045277 9.32 MT-CO1 MT-CO2
9 mitochondrial inner membrane GO:0005743 9.28 COX5A MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CYB

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 MT-CO1 MT-CO2 MT-CYB MT-ND5 MT-ND6 RRM2B
2 proton transmembrane transport GO:1902600 9.63 COX5A MT-CO1 MT-CO2
3 electron transport chain GO:0022900 9.61 COX5A MT-CO1 MT-CO2
4 ATP synthesis coupled proton transport GO:0015986 9.52 MT-ATP6 MT-ATP8
5 respiratory electron transport chain GO:0022904 9.51 MT-CO1 MT-CYB
6 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.49 MT-ATP6 MT-ATP8
7 response to copper ion GO:0046688 9.48 MT-CO1 MT-CYB
8 mitochondrial genome maintenance GO:0000002 9.4 SLC25A4 TYMP
9 mitochondrial DNA replication GO:0006264 9.37 POLG RRM2B
10 ATP synthesis coupled electron transport GO:0042773 9.26 MT-CO2 MT-ND5
11 electron transport coupled proton transport GO:0015990 9.16 MT-CO1 MT-CYB
12 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.13 COX5A MT-CO1 MT-CO2
13 response to hyperoxia GO:0055093 8.8 MT-ATP6 MT-CYB POLG

Molecular functions related to Kearns-Sayre Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 MT-CO1 MT-CO2 MT-CYB MT-ND5 MT-ND6 RRM2B
2 electron transfer activity GO:0009055 9.33 COX5A MT-CO1 MT-CYB
3 cytochrome-c oxidase activity GO:0004129 8.8 COX5A MT-CO1 MT-CO2

Sources for Kearns-Sayre Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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