MCID: KRN002
MIFTS: 59

Kearns-Sayre Syndrome

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

Aliases & Classifications for Kearns-Sayre Syndrome

MalaCards integrated aliases for Kearns-Sayre Syndrome:

Name: Kearns-Sayre Syndrome 53 12 49 24 50 55 36 51 41 14 69
Ophthalmoplegia 12 28 41 14
Mitochondrial Cytopathy 53 49 69
Kss 53 49 24
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 53 49
Chronic Progressive External Ophthalmoplegia with Myopathy 53 49
Oculocraniosomatic Syndrome 53 49
Total Ophthalmoplegia 12 69
Cpeo with Myopathy 53 49
Ophthalmoplegia, Progressive External, with Ragged-Red Fibers 53
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 49
Kearns-Sayre Mitochondrial Cytopathy 24
Ophthalmoplegia-Plus Syndrome 53
Ophthalmoplegia Plus Syndrome 49
Cpeo with Ragged-Red Fibers 53
Cpeo with Ragged Red Fibers 49
Mitochondrial Myopathies 69
Kearns Sayre Syndrome 28
Oculomotor Paralysis 12

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
kearns-sayre syndrome:
Inheritance mitochondrial inheritance


Classifications:



Summaries for Kearns-Sayre Syndrome

Genetics Home Reference : 24 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 ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and myopathy, and has symptoms including ataxia, muscular hypotonia and hearing impairment. 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 retina, eye and heart.

NIH Rare Diseases : 49 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 : 50 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.

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 129)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 32.1 COX5A MT-TK POLG SLC25A4 TWNK TYMP
2 myopathy 32.1 MT-ATP6 MT-CYB MT-ND5 POLG SLC25A4 TWNK
3 mitochondrial myopathy 31.7 COX5A MT-ATP6 MT-CYB MT-ND4 MT-ND5 MT-TL1
4 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 31.1 MT-ATP6 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1
5 encephalomyopathy 30.8 MT-ND4 MT-ND5 MT-ND6 TYMP
6 ptosis 30.5 KIF21A PHOX2A TUBB3 TYMP
7 neuropathy 30.2 MT-ATP6 MT-CYB MT-ND4 MT-ND5 MT-ND6 POLG
8 mitochondrial encephalomyopathy 30.2 COX5A MT-CYB MT-ND4 MT-ND5 MT-ND6 MT-TK
9 mitochondrial metabolism disease 28.6 MT-ATP6 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1
10 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.6
11 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.6
12 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.6
13 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.6
14 pearson marrow-pancreas syndrome 11.4
15 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.3
16 mitochondrial complex ii deficiency 11.3
17 cerebral atrophy 11.3
18 ophthalmoplegia totalis with ptosis and miosis 10.9
19 lesch-nyhan syndrome 10.9
20 periodic paralysis with later-onset distal motor neuropathy 10.6 MT-ATP6 MT-ATP8
21 parkinson disease 6, autosomal recessive early-onset 10.6 MT-ND5 MT-ND6
22 cardiomyopathy, infantile hypertrophic 10.5 MT-ATP6 MT-ATP8
23 hypoparathyroidism 10.5
24 isolated atp synthase deficiency 10.5 MT-ATP6 MT-ATP8
25 diabetes and deafness, maternally inherited 10.5 MT-TK MT-TL1
26 atrial standstill 1 10.5
27 mitochondrial neurogastrointestinal encephalopathy disease 10.4 POLG TYMP
28 myopathy, lactic acidosis, and sideroblastic anemia 10.4 MT-ATP6 MT-TK
29 diphyllobothriasis 10.4 MT-ATP8 MT-ND5 MT-TL1
30 leber optic atrophy and dystonia 10.4 MT-ND4 MT-ND6
31 diabetes mellitus 10.4
32 early myoclonic encephalopathy 10.4 COX5A MT-ND5 MT-TK
33 mitochondrial complex v deficiency 10.4 MT-ATP6 MT-ATP8
34 atrioventricular block 10.4
35 cerebritis 10.4
36 sparganosis 10.3 MT-CYB MT-ND4
37 intestinal pseudo-obstruction 10.3 ATXN7 MT-TL1 TYMP
38 mitochondrial complex iv deficiency 10.3
39 paralytic ileus 10.3 MT-TK TYMP
40 fibrosis of extraocular muscles, congenital, 2 10.3 KIF21A PHOX2A
41 mitochondrial dna depletion syndrome 1 10.3 MT-TK POLG TYMP
42 optic nerve disease 10.3 MT-ND4 MT-ND5 MT-ND6
43 cortical blindness 10.3 MT-ND4 MT-ND6 POLG
44 dilated cardiomyopathy 10.2
45 fanconi syndrome 10.2
46 choroiditis 10.2
47 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.2 POLG TWNK
48 polyneuropathy 10.2 MAG MT-ATP6 POLG TUBB3
49 exotropia 10.2 KIF21A PHOX2A TUBB3
50 facial nerve disease 10.2 KIF21A PHOX2A TUBB3

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:

53
Neurologic Central Nervous System:
seizures
cerebellar ataxia
sensory neuropathy
dementia
basal ganglia calcifications
more
Head And Neck Eyes:
ptosis
progressive external ophthalmoplegia
pigmentary retinopathy

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

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

Endocrine Features:
diabetes mellitus
hypoparathyroidism
addison disease

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:

55 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
3 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
4 delayed skeletal maturation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002750
5 abnormality of retinal pigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007703
6 emg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0003457
7 skeletal muscle atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003202
8 hemiplegia/hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004374
9 reduced tendon reflexes 55 31 frequent (33%) Frequent (79-30%) HP:0001315
10 anterior hypopituitarism 55 31 frequent (33%) Frequent (79-30%) HP:0000830
11 ragged-red muscle fibers 55 31 frequent (33%) Frequent (79-30%) HP:0003200
12 progressive external ophthalmoplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000590
13 third degree atrioventricular block 55 31 hallmark (90%) Very frequent (99-80%) HP:0001709
14 progressive intervertebral space narrowing 55 31 frequent (33%) Frequent (79-30%) HP:0004622
15 seizures 31 HP:0001250
16 muscle weakness 31 HP:0001324
17 ptosis 31 HP:0000508
18 diabetes mellitus 31 HP:0000819
19 microcephaly 31 HP:0000252
20 sensorineural hearing impairment 31 HP:0000407
21 short stature 31 HP:0004322
22 sensory neuropathy 31 HP:0000763
23 cardiomyopathy 31 HP:0001638
24 hypoparathyroidism 31 HP:0000829
25 lactic acidosis 31 HP:0003128
26 primary adrenal insufficiency 31 HP:0008207
27 dementia 31 HP:0000726
28 increased csf protein 31 HP:0002922
29 pigmentary retinopathy 31 HP:0000580
30 renal tubular acidosis 31 HP:0001947
31 renal fanconi syndrome 31 HP:0001994
32 basal ganglia calcification 31 HP:0002135
33 sideroblastic anemia 31 HP:0001924

UMLS symptoms related to Kearns-Sayre Syndrome:


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

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 Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial Disease Completed NCT02473445 Phase 2 Cysteamine Bitartrate Delayed-release Capsules
3 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
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: kearns-sayre syndrome

Genetic Tests for Kearns-Sayre Syndrome

Genetic tests related to Kearns-Sayre Syndrome:

# Genetic test Affiliating Genes
1 Kearns Sayre Syndrome 28
2 Ophthalmoplegia 28

Anatomical Context for Kearns-Sayre Syndrome

MalaCards organs/tissues related to Kearns-Sayre Syndrome:

38
Retina, Eye, Heart, Skeletal Muscle, Brain, Spinal Cord, Testes

Publications for Kearns-Sayre Syndrome

Articles related to Kearns-Sayre Syndrome:

(show top 50) (show all 285)
# Title Authors Year
1
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
2
Kearns Sayre Syndrome: Looking beyond A-V conduction. ( 29073001 )
2017
3
Kearns-Sayre syndrome in the absence of a mtDNA deletion? ( 29124809 )
2017
4
Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns-Sayre syndrome. ( 28702261 )
2017
5
Kearns-Sayre syndrome: Absence of clinical response to treatment with oral folinic acid. ( 28318733 )
2017
6
Folinic acid is ineffective for treating kearns-sayre syndrome. ( 28712837 )
2017
7
Diagnosis and Management of Kearns-Sayre Syndrome Rely on Comprehensive Clinical Evaluation. ( 27748354 )
2016
8
Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience. ( 27718492 )
2016
9
Histopathological comparison of Kearns-Sayre syndrome and PGC-1I+-deficient mice suggests a novel concept for vacuole formation in mitochondrial encephalopathy. ( 27179217 )
2016
10
Diagnosis of Kearns-Sayre Syndrome Requires Comprehensive Work-up. ( 27748353 )
2016
11
A rare case of Kearns-Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation. ( 26949540 )
2016
12
Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation. ( 27625108 )
2016
13
Peripheral Nerve Block is Safely Administered in a Patient with Kearns-Sayre Syndrome. ( 27174339 )
2016
14
Dilated cardiomyopathy with cardiogenic shock in a child with Kearns-Sayre syndrome. ( 26884075 )
2016
15
Corneal Involvement in Kearns-Sayre Syndrome Responsive to Coenzyme-Q? ( 27741019 )
2016
16
Reprint of: Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. ( 27038137 )
2016
17
A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review. ( 27709644 )
2016
18
Classical triad of Kearns-Sayre syndrome. ( 27389730 )
2016
19
Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome. ( 27270536 )
2016
20
Kearns-Sayre Syndrome Is a Rare Cause of Diabetes. ( 26680557 )
2016
21
NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME. ( 28296806 )
2016
22
DEVELOPMENT OF CHRONIC SUBRETINAL FLUID IN KEARNS-SAYRE SYNDROME. ( 26536013 )
2015
23
Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension. ( 25798394 )
2015
24
Bilateral lid/brow elevation procedure for severe ptosis in Kearns-Sayre syndrome, a mitochondrial cytopathy. ( 25565765 )
2015
25
Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. ( 25540845 )
2015
26
Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. ( 25732757 )
2015
27
New gout test: enhanced ex vivo cytokine production from PBMCS in common gout patients and a gout patient with Kearns-Sayre syndrome. ( 24760192 )
2014
28
Descemet membrane endothelial keratoplasty in a child with corneal endothelial dysfunction in kearns-sayre syndrome. ( 25211357 )
2014
29
Obstetric anesthesia considerations in Kearns-Sayre syndrome: a case report. ( 25368789 )
2014
30
Diabetes in pediatric patients with Kearns-Sayre syndrome: clinical presentation of 2 cases and a review of pathophysiology. ( 25092642 )
2014
31
Kearns-Sayre syndrome: a case series of 35 adults and children. ( 25061332 )
2014
32
A Case Report of Complete Heart Block in an Uncommon Disease Entity: Kearns Sayre Syndrome. ( 26281482 )
2014
33
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. ( 25539952 )
2014
34
Hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report. ( 24665319 )
2013
35
Phylogenetic analysis of mitochondrial DNA in a patient with Kearns- Sayre syndrome containing a novel 7629-bp deletion. ( 23391298 )
2013
36
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
37
Kearns-Sayre syndrome presenting as isolated growth failure. ( 23420719 )
2013
38
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
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
Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. ( 23947115 )
2013
42
Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome. ( 23087375 )
2013
43
Cardiac arrest in kearns-sayre syndrome. ( 23430846 )
2012
44
Loss of myelin-associated glycoprotein in kearns-sayre syndrome. ( 22491194 )
2012
45
Progression of normal tension glaucoma in Kearns-Sayre syndrome over 10 years. ( 22004289 )
2012
46
Symptomatic complete heart block leading to a diagnosis of Kearns-Sayre syndrome. ( 23102393 )
2012
47
Torsade de pointes in Kearns-Sayre syndrome. ( 22661355 )
2012
48
Kearns-Sayre syndrome: An unusual ophthalmic presentation. ( 22993469 )
2012
49
Kearns Sayre Syndrome--case report with review of literature. ( 22231766 )
2012
50
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. ( 21378381 )
2011

Variations for Kearns-Sayre Syndrome

ClinVar genetic disease variations for Kearns-Sayre Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TY m.5888delT deletion Pathogenic rs118203892 GRCh37 Chromosome MT, 5888: 5888
2 MT-TY m.5877C> T single nucleotide variant Pathogenic rs118203893 GRCh37 Chromosome MT, 5877: 5877
3 MT-TL1 m.3249G> A single nucleotide variant Pathogenic rs199474667 GRCh37 Chromosome MT, 3249: 3249

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:

36
# 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 9.65 COX5A MT-ATP8 MT-CYB MT-ND4 MT-ND5 MT-ND6
2 mitochondrial membrane GO:0031966 9.54 MT-ATP8 MT-ND4 MT-ND6
3 respiratory chain GO:0070469 9.46 MT-CYB MT-ND4 MT-ND5 MT-ND6
4 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.32 MT-ATP6 MT-ATP8
5 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.26 MT-ATP6 MT-ATP8
6 mitochondrial inner membrane GO:0005743 9.23 COX5A MT-ATP6 MT-ATP8 MT-CYB MT-ND4 MT-ND5

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

# Name GO ID Score Top Affiliating Genes
1 proton transport GO:0015992 9.58 MT-ATP6 MT-ATP8 MT-CYB
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.5 MT-ND4 MT-ND5 MT-ND6
3 ATP synthesis coupled proton transport GO:0015986 9.46 MT-ATP6 MT-ATP8
4 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.43 MT-ATP6 MT-ATP8
5 mitochondrial genome maintenance GO:0000002 9.37 SLC25A4 TYMP
6 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.33 MT-ND4 MT-ND5 MT-ND6
7 ATP synthesis coupled electron transport GO:0042773 9.26 MT-ND4 MT-ND5
8 response to hyperoxia GO:0055093 9.13 MT-ATP6 MT-CYB POLG
9 mitochondrial DNA replication GO:0006264 8.8 POLG RRM2B TWNK

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 9.55 MT-CYB MT-ND4 MT-ND5 MT-ND6 RRM2B
2 transmembrane transporter activity GO:0022857 9.13 MT-ATP6 MT-ATP8 SLC25A4
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND4 MT-ND5 MT-ND6

Sources for Kearns-Sayre Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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