KSS
MCID: KRN002
MIFTS: 63

Kearns-Sayre Syndrome (KSS)

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

Aliases & Classifications for Kearns-Sayre Syndrome

MalaCards integrated aliases for Kearns-Sayre Syndrome:

Name: Kearns-Sayre Syndrome 58 12 77 54 26 55 60 38 56 45 15 41 74
Mitochondrial Cytopathy 58 54 6 74
Ophthalmoplegia 12 30 45 15
Kss 58 54 26
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 58 54
Chronic Progressive External Ophthalmoplegia with Myopathy 58 54
Oculocraniosomatic Syndrome 58 54
Total Ophthalmoplegia 12 74
Kearns Sayre Syndrome 30 6
Cpeo with Myopathy 58 54
Ophthalmoplegia, Progressive External, with Ragged-Red Fibers 58
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 54
Kearns-Sayre Mitochondrial Cytopathy 26
Ophthalmoplegia-Plus Syndrome 58
Ophthalmoplegia Plus Syndrome 54
Cpeo with Ragged-Red Fibers 58
Cpeo with Ragged Red Fibers 54
Mitochondrial Myopathies 74
Oculomotor Paralysis 12

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
kearns-sayre syndrome:
Inheritance mitochondrial inheritance


Classifications:



Summaries for Kearns-Sayre Syndrome

Genetics Home Reference : 26 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 autosomal dominant progressive external ophthalmoplegia and chronic progressive external ophthalmoplegia, and has symptoms including seizures, muscle weakness and myalgia. An important gene associated with Kearns-Sayre Syndrome is MT-TL1 (Mitochondrially Encoded TRNA-Leu (UUA/G) 1), 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 abnormality of retinal pigmentation and progressive external ophthalmoplegia

NIH Rare Diseases : 54 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 : 55 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 : 77 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 520)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant progressive external ophthalmoplegia 33.7 POLG RRM2B SLC25A4 TFAM
2 chronic progressive external ophthalmoplegia 33.2 COX5A POLG RRM2B SLC25A4 TYMP
3 mitochondrial dna depletion syndrome 1 33.1 MT-ATP6 MT-ATP8 MT-CO2 POLG TYMP
4 pearson marrow-pancreas syndrome 33.1 MT-CO2 PUS1
5 mitochondrial neurogastrointestinal encephalopathy disease 32.4 POLG TYMP
6 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.2 MT-ATP6 MT-CO1 MT-CO2 MT-ND6 MT-TL1 POLG
7 myasthenic syndrome, congenital, 10 32.0 MT-CO1 MT-CO2 MT-CYB
8 fibrosis of extraocular muscles, congenital, 2 31.8 KIF21A PHOX2A
9 mitochondrial complex iv deficiency 31.2 COX5A MT-CO1 MT-CO2 MT-TL1
10 sideroblastic anemia 30.9 MT-ATP6 MT-CO1 PUS1
11 ptosis 30.9 KIF21A PHOX2A POLG RRM2B TYMP
12 mitochondrial encephalomyopathy 30.8 COX5A CPOX MT-ATP6 MT-CO1 MT-CO2 MT-CYB
13 peripheral nervous system disease 30.7 KIF21A MAG MT-ND6 POLG
14 lactic acidosis 30.6 MT-ATP6 MT-CO1 MT-CYB MT-ND6 POLG PUS1
15 exotropia 30.4 KIF21A PHOX2A
16 polyneuropathy 30.4 MAG MT-ATP6 POLG
17 aceruloplasminemia 30.3 ATXN7 MT-ATP6 POLG
18 myoclonic epilepsy associated with ragged-red fibers 30.2 COX5A CPOX MT-TL1 POLG TFAM
19 ataxia and polyneuropathy, adult-onset 30.1 MT-ATP6 MT-ATP8
20 mitochondrial myopathy 30.0 COX5A MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CYB
21 mitochondrial neurogastrointestinal encephalomyopathy 30.0 POLG RRM2B TYMP
22 mitochondrial disorders 29.9 COX5A MT-ATP6 SLC25A4 TFAM
23 mitochondrial metabolism disease 29.0 COX5A MT-ATP6 MT-CO2 MT-ND6 MT-TL1 POLG
24 minicore myopathy with external ophthalmoplegia 12.5
25 internuclear ophthalmoplegia 12.5
26 myopathy, proximal, and ophthalmoplegia 12.4
27 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 12.4
28 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 12.3
29 spinal atrophy ophthalmoplegia pyramidal syndrome 12.3
30 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 12.3
31 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 12.3
32 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 12.3
33 ophthalmoplegia, external, with rib and vertebral anomalies 12.3
34 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 12.3
35 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 12.3
36 mitochondrial dna-related progressive external ophthalmoplegia 12.2
37 visceral myopathy, familial, with external ophthalmoplegia 12.2
38 ophthalmoplegia totalis with ptosis and miosis 12.2
39 exophthalmic ophthalmoplegia 12.1
40 motor neuron disease with dementia and ophthalmoplegia 12.0
41 ophthalmoplegia, external, and myopia 12.0
42 ophthalmoplegia, familial static 12.0
43 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency 12.0
44 total internal ophthalmoplegia 12.0
45 gaucher disease - ophthalmoplegia - cardiovascular calcification 12.0
46 fibrosis of extraocular muscles, congenital, 1 11.9
47 tolosa-hunt syndrome 11.9
48 ophthalmoplegia, familial total, with iris transillumination 11.9
49 macrostomia-preauricular tags-external ophthalmoplegia syndrome 11.9
50 mitochondrial dna depletion syndrome 7 11.8

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



Diseases related to Kearns-Sayre Syndrome

Symptoms & Phenotypes for Kearns-Sayre Syndrome

Human phenotypes related to Kearns-Sayre Syndrome:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703
2 progressive external ophthalmoplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000590
3 third degree atrioventricular block 60 33 hallmark (90%) Very frequent (99-80%) HP:0001709
4 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
5 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
6 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
7 emg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0003457
8 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
9 reduced tendon reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001315
10 anterior hypopituitarism 60 33 frequent (33%) Frequent (79-30%) HP:0000830
11 ragged-red muscle fibers 60 33 frequent (33%) Frequent (79-30%) HP:0003200
12 progressive intervertebral space narrowing 60 33 frequent (33%) Frequent (79-30%) HP:0004622
13 delayed skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002750
14 hemiplegia/hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004374
15 ptosis 33 HP:0000508
16 diabetes mellitus 33 HP:0000819
17 seizures 33 HP:0001250
18 muscle weakness 33 HP:0001324
19 microcephaly 33 HP:0000252
20 sensorineural hearing impairment 33 HP:0000407
21 short stature 33 HP:0004322
22 arrhythmia 33 HP:0011675
23 sensory neuropathy 33 HP:0000763
24 cardiomyopathy 33 HP:0001638
25 hypoparathyroidism 33 HP:0000829
26 lactic acidosis 33 HP:0003128
27 primary adrenal insufficiency 33 HP:0008207
28 dementia 33 HP:0000726
29 increased csf protein 33 HP:0002922
30 pigmentary retinopathy 33 HP:0000580
31 renal tubular acidosis 33 HP:0001947
32 renal fanconi syndrome 33 HP:0001994
33 basal ganglia calcification 33 HP:0002135
34 sideroblastic anemia 33 HP:0001924

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Kearns-Sayre Syndrome:


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

MGI Mouse Phenotypes related to Kearns-Sayre Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 CPOX MAG MT-CO1 MT-ND6 PHOX2A POLG
2 muscle MP:0005369 9.23 ATXN7 MT-CO1 MT-ND6 POLG PUS1 RRM2B

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 A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease Recruiting NCT03888716 Phase 1 KL1333;Placebo Oral Tablet
4 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565 Not Applicable
5 Nutritional Assessment in Mitochondrial Cytopathy Completed NCT02375438
6 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
7 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
8 Natural History of Pearson Syndrome Enrolling by invitation NCT02327364
9 Executive Function Disorders and Anxio-depressive Symptomatology in Children and Adolescents With Mitochondrial Pathologies Not yet recruiting NCT03832218 Not Applicable

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 30
2 Ophthalmoplegia 30

Anatomical Context for Kearns-Sayre Syndrome

MalaCards organs/tissues related to Kearns-Sayre Syndrome:

42
Eye, Retina, Heart, Skeletal Muscle, Brain, Spinal Cord, Skin

Publications for Kearns-Sayre Syndrome

Articles related to Kearns-Sayre Syndrome:

(show top 50) (show all 356)
# Title Authors Year
1
Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants. ( 30528267 )
2019
2
Amyotrophic lateral sclerosis diagnostic index: Toward a personalized diagnosis of ALS. ( 30635486 )
2019
3
The necessity of implantable cardioverter defibrillators in patients with Kearns-Sayre syndrome - systematic review of the articles. ( 30642644 )
2019
4
Kearns-Sayre syndrome is genetically and phenotypically heterogeneous. ( 29871478 )
2018
5
Kearns Sayre Syndrome ( 29493966 )
2018
6
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
7
Combination of microdissection and single cell quantitative real-time PCR revealed intercellular mitochondrial DNA heterogeneities in fibroblasts of Kearns-Sayre syndrome patients. ( 30092295 )
2018
8
The Genetic Cause of Kearns-Sayre Syndrome Determines Counselling and Outcome of These Patients. ( 30170685 )
2018
9
Pigmentary retinopathy in Kearns-Sayre syndrome. ( 30279266 )
2018
10
Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome. ( 30326976 )
2018
11
Mitochondrial Disorder: Kearns-Sayre Syndrome. ( 30578503 )
2018
12
Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy? ( 29502391 )
2017
13
Kearns-Sayre syndrome: Absence of clinical response to treatment with oral folinic acid. ( 28318733 )
2017
14
Kearns-Sayre syndrome in the absence of a mtDNA deletion? ( 29124809 )
2017
15
Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns-Sayre syndrome. ( 28702261 )
2017
16
Kearns Sayre Syndrome: Looking beyond A-V conduction. ( 29073001 )
2017
17
Folinic acid is ineffective for treating kearns-sayre syndrome. ( 28712837 )
2017
18
Ultrastructural examination of skin biopsies may assist in diagnosing mitochondrial cytopathy when muscle biopsies yield negative results. ( 28807341 )
2017
19
Reprint of: Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. ( 27038137 )
2016
20
Corneal Involvement in Kearns-Sayre Syndrome Responsive to Coenzyme-Q? ( 27741019 )
2016
21
Dilated cardiomyopathy with cardiogenic shock in a child with Kearns-Sayre syndrome. ( 26884075 )
2016
22
Peripheral Nerve Block is Safely Administered in a Patient with Kearns-Sayre Syndrome. ( 27174339 )
2016
23
A rare case of Kearns-Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation. ( 26949540 )
2016
24
Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome. ( 27270536 )
2016
25
Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation. ( 27625108 )
2016
26
Diagnosis of Kearns-Sayre Syndrome Requires Comprehensive Work-up. ( 27748353 )
2016
27
Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience. ( 27718492 )
2016
28
Histopathological comparison of Kearns-Sayre syndrome and PGC-1I+-deficient mice suggests a novel concept for vacuole formation in mitochondrial encephalopathy. ( 27179217 )
2016
29
Diagnose Kearns-Sayre syndrome genetically and investigate the phenotype comprehensively. ( 29497555 )
2016
30
Diagnosis and Management of Kearns-Sayre Syndrome Rely on Comprehensive Clinical Evaluation. ( 27748354 )
2016
31
Classical triad of Kearns-Sayre syndrome. ( 27389730 )
2016
32
NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME. ( 28296806 )
2016
33
Kearns-Sayre Syndrome Is a Rare Cause of Diabetes. ( 26680557 )
2016
34
A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review. ( 27709644 )
2016
35
Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension. ( 25798394 )
2015
36
Bilateral lid/brow elevation procedure for severe ptosis in Kearns-Sayre syndrome, a mitochondrial cytopathy. ( 25565765 )
2015
37
Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. ( 25540845 )
2015
38
DEVELOPMENT OF CHRONIC SUBRETINAL FLUID IN KEARNS-SAYRE SYNDROME. ( 26536013 )
2015
39
Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. ( 25732757 )
2015
40
Diabetes in pediatric patients with Kearns-Sayre syndrome: clinical presentation of 2 cases and a review of pathophysiology. ( 25092642 )
2014
41
Descemet membrane endothelial keratoplasty in a child with corneal endothelial dysfunction in kearns-sayre syndrome. ( 25211357 )
2014
42
Obstetric anesthesia considerations in Kearns-Sayre syndrome: a case report. ( 25368789 )
2014
43
A Case Report of Complete Heart Block in an Uncommon Disease Entity: Kearns Sayre Syndrome. ( 26281482 )
2014
44
Kearns-Sayre syndrome: a case series of 35 adults and children. ( 25061332 )
2014
45
New gout test: enhanced ex vivo cytokine production from PBMCS in common gout patients and a gout patient with Kearns-Sayre syndrome. ( 24760192 )
2014
46
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. ( 25539952 )
2014
47
Pathological similarities between low birth weight-related nephropathy and nephropathy associated with mitochondrial cytopathy. ( 25350944 )
2014
48
Kearns-Sayre syndrome presenting as isolated growth failure. ( 23420719 )
2013
49
Retraction note to: kearns sayre syndrome - case report with review of literature. ( 23853060 )
2013
50
Natural history of conduction abnormalities in a patient with Kearns-Sayre syndrome. ( 22614904 )
2013

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.5888delT deletion Pathogenic rs118203892 GRCh38 Chromosome MT, 5888: 5888
3 MT-TY m.5877C> T single nucleotide variant Pathogenic rs118203893 GRCh37 Chromosome MT, 5877: 5877
4 MT-TY m.5877C> T single nucleotide variant Pathogenic rs118203893 GRCh38 Chromosome MT, 5877: 5877
5 MT-TL1 m.3249G> A single nucleotide variant Pathogenic rs199474667 GRCh37 Chromosome MT, 3249: 3249
6 MT-TL1 m.3249G> A single nucleotide variant Pathogenic rs199474667 GRCh38 Chromosome MT, 3249: 3249
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:

38
# 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 9.7 COX5A CPOX MT-ATP8 MT-CO1 MT-CO2 MT-CYB
2 respiratory chain GO:0070469 9.46 MT-CO1 MT-CO2 MT-CYB MT-ND6
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 complex IV GO:0045277 9.32 MT-CO1 MT-CO2
8 mitochondrial inner membrane GO:0005743 9.23 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 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.73 CPOX MT-CO1 MT-CO2 MT-CYB MT-ND6 RRM2B
2 proton transmembrane transport GO:1902600 9.65 COX5A MT-CO1 MT-CO2
3 electron transport chain GO:0022900 9.58 COX5A MT-CO1 MT-CO2
4 ATP biosynthetic process GO:0006754 9.51 MT-ATP6 MT-ATP8
5 ATP synthesis coupled proton transport GO:0015986 9.49 MT-ATP6 MT-ATP8
6 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.46 MT-ATP6 MT-ATP8
7 response to copper ion GO:0046688 9.43 MT-CO1 MT-CYB
8 mitochondrial genome maintenance GO:0000002 9.37 SLC25A4 TYMP
9 mitochondrial DNA replication GO:0006264 9.32 POLG RRM2B
10 electron transport coupled proton transport GO:0015990 9.16 MT-CO1 MT-CYB
11 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.13 COX5A MT-CO1 MT-CO2
12 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 CPOX MT-CO1 MT-CO2 MT-CYB MT-ND6 RRM2B
2 transmembrane transporter activity GO:0022857 9.33 MT-ATP6 MT-ATP8 SLC25A4
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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