MCID: KRN002
MIFTS: 57

Kearns-Sayre Syndrome

Categories: Rare diseases, Eye diseases, Genetic diseases, Neuronal 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 54 12 50 24 25 51 56 52 42 14 69
Ophthalmoplegia 12 29 42 14
Kss 50 24 25
Mitochondrial Cytopathy 50 69
Total Ophthalmoplegia 12 69
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 50
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 50
Chronic Progressive External Ophthalmoplegia with Myopathy 50
Kearns-Sayre Mitochondrial Cytopathy 25
Ophthalmoplegia Plus Syndrome 50
Cpeo with Ragged Red Fibers 50
Oculocraniosomatic Syndrome 50
Mitochondrial Myopathies 69
Kearns Sayre Syndrome 29
Oculomotor Paralysis 12
Cpeo with Myopathy 50

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
mitochondrial

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


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 ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and myopathy, and has symptoms including ataxia, muscular hypotonia and delayed skeletal maturation. 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 Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Cysteamine and Ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and heart.

NIH Rare Diseases : 50 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 : 51 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 : 72 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 120)
id Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 11.6
2 myopathy 11.5
3 pearson marrow-pancreas syndrome 11.3
4 cerebral atrophy 11.1
5 mitochondrial complex ii deficiency 11.1
6 mitochondrial disorders 11.1
7 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 11.1
8 parkinson disease 6, early onset 10.9 MT-ND5 MT-ND6
9 deep dermatophytosis 10.9 MT-ATP6 MT-ATP8
10 osteoporotic fracture 10.9 MT-ATP6 MT-ATP8
11 diffuse leptomeningeal melanocytosis 10.8 MT-ATP6 MT-ATP8
12 distal hereditary motor neuropathy type v 10.8 MT-TK MT-TL1
13 lesch-nyhan syndrome 10.8
14 moved to {607459} 10.8 MT-TK MT-TL1
15 congenital fiber-type disproportion 10.7 MT-ATP6 MT-TK
16 lethal restrictive dermopathy, zmpste24-related 10.7 MT-ATP6 MT-ATP8
17 mhs3-related malignant hyperthermia susceptibility 10.7 MT-TK MT-TL1
18 multiple epiphyseal dysplasia, recessive 10.7 POLG TYMP
19 megalencephalic leukoencephalopathy with subcortical cysts 10.7 MT-TK TYMP
20 sparganosis 10.7 MT-ATP8 MT-ND5 MT-TL1
21 mitral atresia 10.7 MT-ATP6 MT-ATP8
22 mitochondrial dna depletion syndrome, mgme1-related 10.7 MT-ATP6 MT-TL1
23 gastric leiomyoma 10.7 MT-CYB MT-ND4
24 11q22.2q22.3 microdeletion syndrome 10.7 POLG RRM2B TYMP
25 deafness, autosomal dominant 30 10.6 POLG TWNK
26 leiner disease 10.6 MT-ND4 MT-ND6
27 white piedra 10.6 MAG MT-ATP6 TUBB3
28 intussusception 10.6 MT-TK TYMP
29 autism susceptibility 17 10.6 KIF21A PHOX2A
30 penis sarcoma 10.6 MT-ND6 POLG
31 allergic contact dermatitis of eyelid 10.6 MT-ND4 MT-ND5 MT-ND6
32 bacterial meningitis 10.5 MT-ND4 TUBB3
33 endometriosis of ovary 10.4 KIF21A PHOX2A TUBB3
34 hypoparathyroidism 10.4
35 peripheral vertigo 10.4 KIF21A PHOX2A TUBB3
36 abducens nerve disease 10.4 KIF21A PHOX2A TUBB3
37 microcephaly-micromelia syndrome 10.4 KIF21A PHOX2A TUBB3
38 cardiomyopathy 10.4
39 mitochondrial recessive ataxia syndrome 10.4 POLG TWNK TYMP
40 peters-plus syndrome 10.4 PHOX2A TUBB3
41 perrault syndrome 5 10.4 SLC25A4 TWNK
42 enchondromatosis dwarfism deafness 10.4 MT-ND4 MT-ND5 MT-ND6 TYMP
43 esotropia 10.3 KIF21A TUBB3
44 paget's disease of bone 10.3 KIF21A PHOX2A TUBB3
45 pseudosarcomatous fibromatosis 10.3 POLG SLC25A4 TWNK
46 mitochondrial encephalomyopathy 10.3
47 atrioventricular block 10.3
48 encephalomyopathy 10.3
49 cerebritis 10.3
50 histoplasmosis retinitis 10.3 MT-ATP8 MT-ND4

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:

54

Growth- Height:
short stature

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

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

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

Head And Neck- Ears:
sensorineural hearing loss

Endocrine Features:
diabetes mellitus
hypoparathyroidism
addison disease

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

Metabolic Features:
lactic acidosis

Cardiovascular- Heart:
cardiomyopathy
cardiac conduction defects
complete heart block

Genitourinary- Kidneys:
renal tubular acidosis
fanconi syndrome

Hematology:
sideroblastic anemia


Clinical features from OMIM:

530000

Human phenotypes related to Kearns-Sayre Syndrome:

56 32 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
2 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
3 delayed skeletal maturation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002750
4 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
5 progressive external ophthalmoplegia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000590
6 abnormality of retinal pigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007703
7 emg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0003457
8 skeletal muscle atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0003202
9 hemiplegia/hemiparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004374
10 reduced tendon reflexes 56 32 frequent (33%) Frequent (79-30%) HP:0001315
11 anterior hypopituitarism 56 32 frequent (33%) Frequent (79-30%) HP:0000830
12 ragged-red muscle fibers 56 32 frequent (33%) Frequent (79-30%) HP:0003200
13 third degree atrioventricular block 56 32 hallmark (90%) Very frequent (99-80%) HP:0001709
14 progressive intervertebral space narrowing 56 32 frequent (33%) Frequent (79-30%) HP:0004622
15 short stature 32 HP:0004322
16 seizures 32 HP:0001250
17 ptosis 32 HP:0000508
18 microcephaly 32 HP:0000252
19 pigmentary retinopathy 32 HP:0000580
20 muscle weakness 32 HP:0001324
21 lactic acidosis 32 HP:0003128
22 cardiomyopathy 32 HP:0001638
23 renal tubular acidosis 32 HP:0001947
24 increased csf protein 32 HP:0002922
25 diabetes mellitus 32 HP:0000819
26 sideroblastic anemia 32 HP:0001924
27 dementia 32 HP:0000726
28 sensory neuropathy 32 HP:0000763
29 basal ganglia calcification 32 HP:0002135
30 sensorineural hearing impairment 32 HP:0000407
31 hypoparathyroidism 32 HP:0000829
32 renal fanconi syndrome 32 HP:0001994
33 primary adrenal insufficiency 32 HP:0008207

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):


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

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Kearns Sayre Syndrome 29
2 Ophthalmoplegia 29
3 Kearns-Sayre Syndrome 24

Anatomical Context for Kearns-Sayre Syndrome

MalaCards organs/tissues related to Kearns-Sayre Syndrome:

39
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 282)
id Title Authors Year
1
Folinic acid is ineffective for treating kearns-sayre syndrome. ( 28712837 )
2017
2
Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns-Sayre syndrome. ( 28702261 )
2017
3
Kearns-Sayre syndrome: Absence of clinical response to treatment with oral folinic acid. ( 28318733 )
2017
4
Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation. ( 27625108 )
2016
5
Peripheral Nerve Block is Safely Administered in a Patient with Kearns-Sayre Syndrome. ( 27174339 )
2016
6
Diagnosis of Kearns-Sayre Syndrome Requires Comprehensive Work-up. ( 27748353 )
2016
7
Reprint of: Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. ( 27038137 )
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
NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME. ( 28296806 )
2016
11
Corneal Involvement in Kearns-Sayre Syndrome Responsive to Coenzyme-Q? ( 27741019 )
2016
12
A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review. ( 27709644 )
2016
13
Diagnosis and Management of Kearns-Sayre Syndrome Rely on Comprehensive Clinical Evaluation. ( 27748354 )
2016
14
Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome. ( 27270536 )
2016
15
Classical triad of Kearns-Sayre syndrome. ( 27389730 )
2016
16
Dilated cardiomyopathy with cardiogenic shock in a child with Kearns-Sayre syndrome. ( 26884075 )
2016
17
Kearns-Sayre Syndrome Is a Rare Cause of Diabetes. ( 26680557 )
2016
18
A rare case of Kearns-Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation. ( 26949540 )
2016
19
DEVELOPMENT OF CHRONIC SUBRETINAL FLUID IN KEARNS-SAYRE SYNDROME. ( 26536013 )
2015
20
Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. ( 25732757 )
2015
21
Bilateral lid/brow elevation procedure for severe ptosis in Kearns-Sayre syndrome, a mitochondrial cytopathy. ( 25565765 )
2015
22
Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. ( 25540845 )
2015
23
Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension. ( 25798394 )
2015
24
New gout test: enhanced ex vivo cytokine production from PBMCS in common gout patients and a gout patient with Kearns-Sayre syndrome. ( 24760192 )
2014
25
A Case Report of Complete Heart Block in an Uncommon Disease Entity: Kearns Sayre Syndrome. ( 26281482 )
2014
26
Diabetes in pediatric patients with Kearns-Sayre syndrome: clinical presentation of 2 cases and a review of pathophysiology. ( 25092642 )
2014
27
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. ( 25539952 )
2014
28
Descemet membrane endothelial keratoplasty in a child with corneal endothelial dysfunction in kearns-sayre syndrome. ( 25211357 )
2014
29
Kearns-Sayre syndrome: a case series of 35 adults and children. ( 25061332 )
2014
30
Obstetric anesthesia considerations in Kearns-Sayre syndrome: a case report. ( 25368789 )
2014
31
Kearns-Sayre syndrome presenting as isolated growth failure. ( 23420719 )
2013
32
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
33
Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome. ( 23087375 )
2013
34
Natural history of conduction abnormalities in a patient with Kearns-Sayre syndrome. ( 22614904 )
2013
35
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
36
Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. ( 23947115 )
2013
37
Phylogenetic analysis of mitochondrial DNA in a patient with Kearns- Sayre syndrome containing a novel 7629-bp deletion. ( 23391298 )
2013
38
Hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report. ( 24665319 )
2013
39
Retraction note to: kearns sayre syndrome - case report with review of literature. ( 23853060 )
2013
40
Loss of myelin-associated glycoprotein in kearns-sayre syndrome. ( 22491194 )
2012
41
Symptomatic complete heart block leading to a diagnosis of Kearns-Sayre syndrome. ( 23102393 )
2012
42
Kearns Sayre Syndrome--case report with review of literature. ( 22231766 )
2012
43
Kearns-Sayre syndrome: An unusual ophthalmic presentation. ( 22993469 )
2012
44
Torsade de pointes in Kearns-Sayre syndrome. ( 22661355 )
2012
45
Progression of normal tension glaucoma in Kearns-Sayre syndrome over 10 years. ( 22004289 )
2012
46
Cardiac arrest in kearns-sayre syndrome. ( 23430846 )
2012
47
General anaesthesia for laparoscopic cholecystectomy in a patient with the kearns-sayre syndrome. ( 22606396 )
2011
48
RNA-mediated restoration of mitochondrial function in cells harboring a Kearns Sayre Syndrome mutation. ( 21406250 )
2011
49
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. ( 21378381 )
2011
50
Heart transplantation for a patient with Kearns-Sayre syndrome and end-stage heart failure. ( 21450000 )
2011

Variations for Kearns-Sayre Syndrome

ClinVar genetic disease variations for Kearns-Sayre Syndrome:

6
id 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.

GO Terms for Kearns-Sayre Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.81 COX5A MT-ATP8 MT-CYB MT-ND4 MT-ND5 POLG
2 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.32 MT-ATP6 MT-ATP8
3 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.26 MT-ATP6 MT-ATP8
4 respiratory chain GO:0070469 9.26 MT-CYB MT-ND4 MT-ND5 MT-ND6
5 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:

id 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 mitochondrial DNA replication GO:0006264 9.13 POLG RRM2B TWNK
9 response to hyperoxia GO:0055093 8.92 MT-ATP6 MT-ATP8 MT-CYB POLG

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.35 MT-CYB MT-ND4 MT-ND5 MT-ND6 RRM2B
2 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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