KSS
MCID: KRN002
MIFTS: 61

Kearns-Sayre Syndrome (KSS) malady

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

Aliases & Classifications for Kearns-Sayre Syndrome

Aliases & Descriptions for Kearns-Sayre Syndrome:

Name: Kearns-Sayre Syndrome 54 12 50 24 25 51 56 29 52 42 14 69
Ophthalmoplegia 12 42 14
Kss 50 24 25
Ophthalmoplegia Plus Syndrome 50 29
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
Cpeo with Ragged Red Fibers 50
Oculocraniosomatic Syndrome 50
Mitochondrial Myopathies 69
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;

HPO:

32
kearns-sayre syndrome:
Inheritance mitochondrial inheritance


Classifications:



External Ids:

OMIM 54 530000
Disease Ontology 12 DOID:12934 DOID:539
ICD10 33 H49.81 H49.3
ICD9CM 35 378.56
Orphanet 56 ORPHA480
ICD10 via Orphanet 34 H49.8
MESH via Orphanet 43 D007625
UMLS via Orphanet 70 C0022541

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 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 Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Silicon and Rivastigmine 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 : 71 Kearns–Sayre syndrome (KSS) is a mitochondrial myopathy with a typical onset before 20 years of age.... 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 111)
id Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 11.7
2 myopathy 11.5
3 pearson syndrome 11.3
4 mitochondrial disorders 11.2
5 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 11.2
6 mitochondrial complex ii deficiency 11.2
7 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.1
8 progressive external ophthalmoplegia, autosomal recessive 1 11.1
9 progressive external ophthalmoplegia, autosomal dominant 1 11.1
10 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.1
11 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.1
12 hypoparathyroidism 10.4
13 cardiomyopathy 10.4
14 traumatic avascular necrosis 10.4 MT-ATP6 MT-ATP8
15 door syndrome 10.3 MT-TL1 POLG
16 dsg2-related dilated cardiomyopathy 10.3 MT-TK MT-TL1
17 herpes simplex encephalitis 2 10.3 MT-TL1 SLC25A4
18 combined pituitary hormone deficiency 10.3 POLG TWNK
19 nonsyndromic 46,xx testicular disorders of sex development 10.3 POLG TYMP
20 perrault syndrome 5 10.3 MT-TL1 TWNK
21 peroxisome biogenesis disorders, zellweger syndrome spectrum 10.3 POLG TWNK
22 syphilitic encephalitis 10.3 MT-ATP8 MT-ND5 MT-TL1
23 levy-shanske syndrome 10.3 MT-TL1 POLG
24 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 10.3 MT-TK MT-TL1
25 encephalomyopathy 10.3
26 cerebritis 10.3
27 atrioventricular block 10.3
28 mitochondrial encephalomyopathy 10.3
29 cylindrical spirals myopathy 10.3 MT-ATP6 MT-TK
30 microlissencephaly iii 10.3 MT-TK MT-TL1
31 idiopathic dropped head syndrome 10.3 POLG RRM2B TYMP
32 parkinson disease 6, early onset 10.3 MT-ND5 MT-ND6
33 neurodegeneration due to cerebral folate transport deficiency 10.3 KIF21A PHOX2A
34 fanconi anemia, complementation group i 10.3 POLG TWNK
35 liddle syndrome, scnn1g-related 10.3 MT-ATP6 MT-ATP8
36 megalencephalic leukoencephalopathy with subcortical cysts 10.3 MT-TK POLG TYMP
37 allergic contact dermatitis of eyelid 10.3 MT-ND4 MT-ND5 MT-ND6
38 lentigo maligna melanoma 10.3 MT-ND4 MT-ND6
39 ptosis 10.2
40 uterine ligament serous adenocarcinoma 10.2 MAG MT-ND4 MT-ND6
41 moebius axonal neuropathy hypogonadism 10.2 MT-ATP6 MT-ATP8
42 enteropathica 10.2 MT-ND4 MT-ND5 MT-ND6 TYMP
43 deafness, autosomal dominant 30 10.2 POLG TYMP
44 fanconi syndrome 10.2
45 mitochondrial cardiomyopathy 10.2
46 dilated cardiomyopathy 10.2
47 choroiditis 10.2
48 neuropathy 10.2
49 bbs2-related bardet-biedl syndrome 10.2 POLG RRM2B SLC25A4 TWNK
50 pellagra 10.2 MT-TK TYMP

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 by clinical synopsis from OMIM:

530000

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 (79-30%) HP:0001251
2 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
3 hearing impairment 56 32 Frequent (79-30%) HP:0000365
4 delayed skeletal maturation 56 32 Occasional (29-5%) HP:0002750
5 abnormality of retinal pigmentation 56 32 Very frequent (99-80%) HP:0007703
6 emg abnormality 56 32 Frequent (79-30%) HP:0003457
7 skeletal muscle atrophy 56 32 Frequent (79-30%) HP:0003202
8 hemiplegia/hemiparesis 56 32 Occasional (29-5%) HP:0004374
9 reduced tendon reflexes 56 32 Frequent (79-30%) HP:0001315
10 anterior hypopituitarism 56 32 Frequent (79-30%) HP:0000830
11 ragged-red muscle fibers 56 32 Frequent (79-30%) HP:0003200
12 progressive external ophthalmoplegia 56 32 Very frequent (99-80%) HP:0000590
13 third degree atrioventricular block 56 32 Very frequent (99-80%) HP:0001709
14 progressive intervertebral space narrowing 56 32 Frequent (79-30%) HP:0004622
15 seizures 32 HP:0001250
16 muscle weakness 32 HP:0001324
17 ptosis 32 HP:0000508
18 diabetes mellitus 32 HP:0000819
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):

(show top 50) (show all 84)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Phase 4 7440-21-3 4082203
2
Rivastigmine Approved, Investigational Phase 3,Phase 2 123441-03-2 77991
3
Rasagiline Approved Phase 3 136236-51-6 3052776
4
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
5 Cholinergic Agents Phase 3,Phase 2
6 Cholinesterase Inhibitors Phase 3,Phase 2
7 Neuroprotective Agents Phase 3,Phase 2
8 Neurotransmitter Agents Phase 3,Phase 2
9 Protective Agents Phase 3,Phase 2,Phase 1
10 Ubiquinone Phase 2, Phase 3
11 Trace Elements Phase 2, Phase 3, Phase 1
12 Vitamins Phase 2, Phase 3, Phase 1
13 Anticonvulsants Phase 3,Phase 2
14 Micronutrients Phase 2, Phase 3, Phase 1
15 Excitatory Amino Acid Antagonists Phase 3
16 Excitatory Amino Acids Phase 3
17
Coenzyme Q10 Experimental, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
18
Donepezil Approved Phase 2 120014-06-4 3152
19
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
20
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
21
Acetylcarnitine Approved, Investigational Phase 1, Phase 2 3040-38-8 1
22
4-Aminopyridine Approved Phase 2 504-24-5 1727
23
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
24 Nootropic Agents Phase 2,Phase 1
25 Anesthetics Phase 1, Phase 2
26 Pharmaceutical Solutions Phase 1, Phase 2
27 Lithium carbonate Phase 1, Phase 2 554-13-2
28 GABA Agents Phase 2
29 Thioctic Acid Phase 1, Phase 2
30 Tranquilizing Agents Phase 2,Phase 1
31 Vitamin B Complex Phase 1, Phase 2
32 Antidepressive Agents Phase 1, Phase 2
33 Psychotropic Drugs Phase 2,Phase 1
34 Antimanic Agents Phase 2,Phase 1
35 Antioxidants Phase 1, Phase 2
36 Central Nervous System Depressants Phase 2,Phase 1
37 Potassium Channel Blockers Phase 2
38 carnitine Nutraceutical Phase 1, Phase 2
39 Folate Nutraceutical Phase 1, Phase 2
40 Alpha-lipoic Acid Nutraceutical Phase 1, Phase 2
41 Vitamin B9 Nutraceutical Phase 1, Phase 2
42
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
43
Salicylic acid Approved, Vet_approved Phase 1 69-72-7 338
44
Benzoic Acid Approved Phase 1 65-85-0 243
45 Dopamine Agents Phase 1
46 Sodium salicylate Phase 1 54-21-7
47 Analgesics Phase 1
48 Salicylates Phase 1
49 Salicylsalicylic acid Phase 1
50 Cyclooxygenase Inhibitors Phase 1

Interventional clinical trials:

(show top 50) (show all 76)
id Name Status NCT ID Phase
1 Efficacy of Aurosling in Frontalis Sling Suspension Surgery Completed NCT00753831 Phase 4
2 Effects of Coenzyme Q10 in PSP and CBD Completed NCT00532571 Phase 2, Phase 3
3 Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear Palsy Completed NCT01110720 Phase 2, Phase 3
4 Effects of Coenzyme Q10 in Progressive Supranuclear Palsy (PSP) Completed NCT00382824 Phase 2, Phase 3
5 Efficacy of RIVAstigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear Palsy Recruiting NCT02839642 Phase 3
6 Efficacy, Tolerability and Safety of Azilect in Subjects With Progressive Supranuclear Palsy Terminated NCT01187888 Phase 3
7 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3
8 Clinical Trial to Evaluate Bone Marrow Stem Cell Therapy for PSP, a Rare Form of Parkinsonism Unknown status NCT01824121 Phase 1, Phase 2
9 Efficacy Study for Treatment of Dementia in Progressive Supranuclear Palsy Unknown status NCT00522015 Phase 2
10 Study of the Distractibility Syndrome in Patients With Progressive Supranuclear Palsy Unknown status NCT00139373 Phase 2
11 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2
12 A Long-Term Extension Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial Disease Completed NCT02473445 Phase 2
13 Trial of Valproic Acid in Patients With Progressive Supranuclear Palsy (Depakine) Completed NCT00385710 Phase 2
14 Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) to Treat Progressive Supranuclear Palsy Completed NCT00005903 Phase 2
15 Alpha-lipoic Acid/L-acetyl Carnitine for Progressive Supranuclear Palsy Completed NCT01537549 Phase 1, Phase 2
16 A Pilot Trial of Lithium in Subjects With Progressive Supranuclear Palsy or Corticobasal Degeneration Completed NCT00703677 Phase 1, Phase 2
17 Study About Safety and Efficacy of Coenzyme Q10 in Progressive Supranuclear Palsy Completed NCT00328874 Phase 2
18 Study and Treatment of Visual Dysfunction and Motor Fatigue in Multiple Sclerosis Recruiting NCT02391961 Phase 2
19 Study of BMS-986168 in Patients With Progressive Supranuclear Palsy Recruiting NCT03068468 Phase 2
20 A Study to Assess Efficacy, Safety, Tolerability, and Pharmacokinetics of ABBV-8E12 in Progressive Supranuclear Palsy Recruiting NCT02985879 Phase 2
21 EPI-743 for Mitochondrial Respiratory Chain Diseases Active, not recruiting NCT01370447 Phase 2
22 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Active, not recruiting NCT01056965 Phase 2
23 Tau Imaging in Subjects With Progressive Supranuclear Palsy, Corticobasal Degeneration and Healthy Volunteers Completed NCT02167594 Phase 1
24 Evaluation of [18F]MNI-777 PET as a Marker of Tau Pathology in Subjects With Tauopathies Compared to Healthy Subjects Completed NCT02103894 Phase 1
25 Young Plasma Transfusions for Progressive Supranuclear Palsy Recruiting NCT02460731 Phase 1
26 A 6 Month, Open-Label, Pilot Futility Clinical Trial of Oral Salsalate for Progressive Supranuclear Palsy Recruiting NCT02422485 Phase 1
27 Safety, Tolerability, and Pharmacokinetics of C2N-8E12 in Subjects With Progressive Supranuclear Palsy Active, not recruiting NCT02494024 Phase 1
28 Multiple Ascending Dose Study of Intravenously Administered BMS-986168 in Patients With Progressive Supranuclear Palsy Active, not recruiting NCT02460094 Phase 1
29 Safety Study of TPI-287 to Treat CBS and PSP Active, not recruiting NCT02133846 Phase 1
30 Extension Study of BMS-986168 in Patients With Progressive Supranuclear Palsy Who Participated in CN002003 Enrolling by invitation NCT02658916 Phase 1
31 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
32 Foot Mechanical Stimulation for Treatment of Gait and Gait Related Disorders in Parkinson's Disease and Progressive Supranuclear Palsy. Unknown status NCT01815281
33 Robot Walking Rehabilitation in Parkinson's Disease Unknown status NCT01668407
34 Postural Instability in Progressive Supranuclear Palsy Unknown status NCT01563276
35 Diagnostic and Prognostic Biomarkers in Parkinson Disease Unknown status NCT00653783
36 Transcranial Duplex Scanning and Single Photon Emission Computer Tomography (SPECT) in Parkinsonian Syndromes Unknown status NCT00368199 Early Phase 1
37 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
38 Nutritional Assessment in Mitochondrial Cytopathy Completed NCT02375438
39 MRI Study - Chronic Progressive External Ophthalmoplegia Completed NCT02161848
40 Compression Stocking Use in Shoulder Arthroscopy in Beach Chair Completed NCT01996813
41 Natural History in CCFDN and IBM Syndromes Completed NCT01902940
42 Risk Factors for Progressive Supranuclear Palsy (PSP) Completed NCT00431301
43 Deep TMS for the Treatment of Patients With Parkinson's Disease and Progressive Supranuclear Palsy Completed NCT02734485
44 Evaluation of [18F]MNI-815 as a Potential PET Radioligand for Imaging Tau Protein in the Brain of Patients With Tauopathies Completed NCT02531360 Early Phase 1
45 Predictive and Diagnostic Value of Tau and Beta-amyloid Markers in the Dementia of Parkinson's Disease Completed NCT02243982 Early Phase 1
46 2-(1-{6-[(2-[F-18]Fluoroethyl) (Methyl)Amino]-2-naphthyl} Ethylidene) Malononitrile-PET for in Vivo Diagnose of Tauopathy in Unclassified Parkinsonism Completed NCT02214862 Early Phase 1
47 Rehabilitation in Patients With Progressive Supranuclear Palsy Completed NCT02109393
48 Analysis of the Enteric Nervous System Using Colonic Biopsies Completed NCT01353183
49 Evaluating Cerebrospinal Fluid Biomarkers in Alzheimer's, Progressive Supranuclear Palsy Subjects, and Controls Completed NCT01348061
50 Repetitive Transcranial Magnetic Stimulation (TMS) for Progressive Supranuclear Palsy and Corticobasal Degeneration Completed NCT01174771

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 280)
id Title Authors Year
1
Kearns-Sayre syndrome: Absence of clinical response to treatment with oral folinic acid. ( 28318733 )
2017
2
Diagnosis and Management of Kearns-Sayre Syndrome Rely on Comprehensive Clinical Evaluation. ( 27748354 )
2016
3
Classical triad of Kearns-Sayre syndrome. ( 27389730 )
2016
4
Corneal Involvement in Kearns-Sayre Syndrome Responsive to Coenzyme-Q? ( 27741019 )
2016
5
Histopathological comparison of Kearns-Sayre syndrome and PGC-1I+-deficient mice suggests a novel concept for vacuole formation in mitochondrial encephalopathy. ( 27179217 )
2016
6
Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience. ( 27718492 )
2016
7
Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome. ( 27270536 )
2016
8
Dilated cardiomyopathy with cardiogenic shock in a child with Kearns-Sayre syndrome. ( 26884075 )
2016
9
A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review. ( 27709644 )
2016
10
Kearns-Sayre Syndrome Is a Rare Cause of Diabetes. ( 26680557 )
2016
11
Diagnosis of Kearns-Sayre Syndrome Requires Comprehensive Work-up. ( 27748353 )
2016
12
Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation. ( 27625108 )
2016
13
NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME. ( 28296806 )
2016
14
Peripheral Nerve Block is Safely Administered in a Patient with Kearns-Sayre Syndrome. ( 27174339 )
2016
15
A rare case of Kearns-Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation. ( 26949540 )
2016
16
Reprint of: Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. ( 27038137 )
2016
17
Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. ( 25540845 )
2015
18
Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. ( 25732757 )
2015
19
Bilateral lid/brow elevation procedure for severe ptosis in Kearns-Sayre syndrome, a mitochondrial cytopathy. ( 25565765 )
2015
20
Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension. ( 25798394 )
2015
21
DEVELOPMENT OF CHRONIC SUBRETINAL FLUID IN KEARNS-SAYRE SYNDROME. ( 26536013 )
2015
22
Descemet membrane endothelial keratoplasty in a child with corneal endothelial dysfunction in kearns-sayre syndrome. ( 25211357 )
2014
23
Diabetes in pediatric patients with Kearns-Sayre syndrome: clinical presentation of 2 cases and a review of pathophysiology. ( 25092642 )
2014
24
Kearns-Sayre syndrome: a case series of 35 adults and children. ( 25061332 )
2014
25
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. ( 25539952 )
2014
26
Obstetric anesthesia considerations in Kearns-Sayre syndrome: a case report. ( 25368789 )
2014
27
A Case Report of Complete Heart Block in an Uncommon Disease Entity: Kearns Sayre Syndrome. ( 26281482 )
2014
28
New gout test: enhanced ex vivo cytokine production from PBMCS in common gout patients and a gout patient with Kearns-Sayre syndrome. ( 24760192 )
2014
29
Kearns-Sayre syndrome presenting as isolated growth failure. ( 23420719 )
2013
30
Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. ( 23947115 )
2013
31
Natural history of conduction abnormalities in a patient with Kearns-Sayre syndrome. ( 22614904 )
2013
32
Phylogenetic analysis of mitochondrial DNA in a patient with Kearns- Sayre syndrome containing a novel 7629-bp deletion. ( 23391298 )
2013
33
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
34
Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome. ( 23087375 )
2013
35
Hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report. ( 24665319 )
2013
36
Retraction note to: kearns sayre syndrome - case report with review of literature. ( 23853060 )
2013
37
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
38
Kearns-Sayre syndrome: An unusual ophthalmic presentation. ( 22993469 )
2012
39
Loss of myelin-associated glycoprotein in kearns-sayre syndrome. ( 22491194 )
2012
40
Torsade de pointes in Kearns-Sayre syndrome. ( 22661355 )
2012
41
Progression of normal tension glaucoma in Kearns-Sayre syndrome over 10 years. ( 22004289 )
2012
42
Symptomatic complete heart block leading to a diagnosis of Kearns-Sayre syndrome. ( 23102393 )
2012
43
Cardiac arrest in kearns-sayre syndrome. ( 23430846 )
2012
44
Kearns Sayre Syndrome--case report with review of literature. ( 22231766 )
2012
45
RNA-mediated restoration of mitochondrial function in cells harboring a Kearns Sayre Syndrome mutation. ( 21406250 )
2011
46
Kearns Sayre Syndrome (KSS) - A Rare Cause For Cardiac Pacing. ( 21346823 )
2011
47
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. ( 21378381 )
2011
48
Heart transplantation for a patient with Kearns-Sayre syndrome and end-stage heart failure. ( 21450000 )
2011
49
General anaesthesia for laparoscopic cholecystectomy in a patient with the kearns-sayre syndrome. ( 22606396 )
2011
50
Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients. ( 21745599 )
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.

Pathways 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 9.85 COX5A MT-ATP8 MT-CO2 MT-CYB MT-ND4 MT-ND5
2 mitochondrial membrane GO:0031966 9.58 MT-ATP8 MT-ND4 MT-ND6
3 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.37 MT-ATP6 MT-ATP8
4 respiratory chain GO:0070469 9.35 MT-CO2 MT-CYB MT-ND4 MT-ND5 MT-ND6
5 mitochondrial respiratory chain complex IV GO:0005751 9.32 COX5A MT-CO2
6 mitochondrial inner membrane GO:0005743 9.28 COX5A MT-ATP6 MT-ATP8 MT-CO2 MT-CYB MT-ND4
7 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.26 MT-ATP6 MT-ATP8

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.88 MT-CO2 MT-CYB MT-ND4 MT-ND5 MT-ND6 RRM2B
2 proton transport GO:0015992 9.63 MT-ATP6 MT-ATP8 MT-CYB
3 hydrogen ion transmembrane transport GO:1902600 9.54 COX5A MT-CO2 MT-CYB
4 ATP synthesis coupled proton transport GO:0015986 9.51 MT-ATP6 MT-ATP8
5 mitochondrial respiratory chain complex I assembly GO:0032981 9.5 MT-ND4 MT-ND5 MT-ND6
6 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.49 COX5A MT-CO2
7 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.48 MT-ATP6 MT-ATP8
8 mitochondrial genome maintenance GO:0000002 9.43 SLC25A4 TYMP
9 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.43 MT-ND4 MT-ND5 MT-ND6
10 mitochondrial DNA replication GO:0006264 9.33 POLG RRM2B TWNK
11 ATP synthesis coupled electron transport GO:0042773 9.13 MT-CO2 MT-ND4 MT-ND5
12 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 9.43 MT-CO2 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

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