KSS
MCID: KRN002
MIFTS: 63

Kearns-Sayre Syndrome (KSS)

Categories: 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 56 12 74 52 25 53 58 36 54 43 15 39 71
Mitochondrial Cytopathy 56 52 6 71
Ophthalmoplegia 12 29 43 15
Kss 56 52 25
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 56 52
Chronic Progressive External Ophthalmoplegia with Myopathy 56 52
Oculocraniosomatic Syndrome 56 52
Total Ophthalmoplegia 12 71
Kearns Sayre Syndrome 29 6
Cpeo with Myopathy 56 52
Ophthalmoplegia, Progressive External, with Ragged-Red Fibers 56
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 52
Kearns-Sayre Mitochondrial Cytopathy 25
Ophthalmoplegia-Plus Syndrome 56
Ophthalmoplegia Plus Syndrome 52
Cpeo with Ragged-Red Fibers 56
Cpeo with Ragged Red Fibers 52
Mitochondrial Myopathies 71
Oculomotor Paralysis 12

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Rare endocrine diseases
Developmental anomalies during embryogenesis


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). People with Kearns-Sayre syndrome may also experience muscle weakness in their limbs, deafness, kidney problems, or a deterioration of cognitive functions (dementia). Affected individuals often have short stature. In addition, diabetes mellitus is occasionally seen in people with Kearns-Sayre syndrome. When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. The abnormal muscle cells contain an excess of structures called mitochondria and are known as ragged-red fibers. A related condition called ophthalmoplegia-plus may be diagnosed if an individual has many of the signs and symptoms of Kearns-Sayre syndrome but not all the criteria are met.

MalaCards based summary : Kearns-Sayre Syndrome, also known as mitochondrial cytopathy, is related to autosomal dominant progressive external ophthalmoplegia and mitochondrial dna depletion syndrome 7, 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 Silicon and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include eye, pituitary and heart, and related phenotypes are abnormality of retinal pigmentation and progressive external ophthalmoplegia

NIH Rare Diseases : 52 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 : 53 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.

KEGG : 36 Kearns-Sayre Syndrome is a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia. This disease is caused by various large-scale deletions of mitochondrial DNA.

Wikipedia : 74 Kearns-Sayre syndrome (KSS) is a mitochondrial myopathy with a typical onset before 20 years of age. KSS... more...

More information 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 923)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant progressive external ophthalmoplegia 34.5 SLC25A4 RRM2B POLG
2 mitochondrial dna depletion syndrome 7 34.3 SLC25A4 RRM2B POLG
3 mitochondrial dna depletion syndrome 1 34.0 POLG MT-TK
4 chronic progressive external ophthalmoplegia 34.0 SLC25A4 RRM2B POLG MT-TL1 MT-TK MT-ND6
5 mitochondrial complex ii deficiency 33.9 SDHD SDHAF1 SDHA
6 pearson marrow-pancreas syndrome 33.9 PUS1 POLG MT-TL1 MT-TK MT-ND6 MT-CYB
7 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 33.4 POLG MT-TL1 MT-TK MT-ND6 MT-ND5 MT-CYB
8 gaucher disease, type iii 32.5 MT-CO3 MT-CO2
9 aceruloplasminemia 32.0 POLG MT-TK MT-ATP6 ATXN7
10 mitochondrial dna deletion syndromes 31.8 SDHA POLG
11 retinitis pigmentosa 31.8 POLG MT-TL1 MT-TK MT-ND6 MT-CYB MT-CO3
12 mitochondrial complex iv deficiency 31.8 MT-TL1 MT-CO3 MT-CO2 COX5A
13 mitochondrial encephalomyopathy 31.8 POLG MT-TL1 MT-TK MT-ND6 MT-ND5 MT-CYB
14 mitochondrial disorders 31.8 SLC25A4 RRM2B POLG MT-TL1 MT-TK MT-ND6
15 mitochondrial myopathy 31.7 SLC25A4 RRM2B PUS1 POLG MT-TL1 MT-TK
16 neuropathy 31.5 POLG MT-ND6 MT-ND5 MT-CYB MT-CO3 MT-ATP8
17 lactic acidosis 31.5 RRM2B PUS1 POLG MT-TL1 MT-TK MT-ND6
18 hereditary optic neuropathy 31.5 MT-ND6 MT-ND5 MT-CYB MT-CO3 MT-ATP6
19 peripheral nervous system disease 31.4 POLG MT-TK MT-ND6 MT-ATP6 MAG
20 dystonia 31.4 SDHAF1 SDHA POLG MT-ND6 ATXN7
21 optic nerve disease 31.3 POLG MT-TK MT-ND6 MT-ND5 MT-CYB MT-CO3
22 diabetes and deafness, maternally inherited 31.2 MT-TL1 MT-TK
23 mitochondrial neurogastrointestinal encephalomyopathy 31.1 RRM2B POLG
24 early myoclonic encephalopathy 31.1 POLG MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ATP6
25 mitochondrial metabolism disease 31.1 SLC25A4 SDHD SDHAF1 SDHA RRM2B PUS1
26 quadriplegia 31.0 SDHD SDHAF1 SDHA
27 mitochondrial dna depletion syndrome 4a 30.9 POLG COX5A
28 axonal neuropathy 30.9 SLC25A4 RRM2B POLG
29 3-methylglutaconic aciduria, type iii 30.9 SLC25A4 SDHA RRM2B POLG MT-TL1 MT-TK
30 myoclonic epilepsy associated with ragged-red fibers 30.9 POLG MT-TL1 MT-TK MT-ND6 MT-ND5 MT-CYB
31 myoglobinuria 30.9 MT-CYB MT-CO3 COX5A
32 intestinal pseudo-obstruction 30.9 POLG MT-TL1 ATXN7
33 cortical blindness 30.8 POLG MT-ND6 MT-ND5
34 spastic quadriplegia 30.6 SDHD SDHAF1 SDHA
35 leigh syndrome 30.4 SDHD SDHAF1 SDHA POLG MT-TL1 MT-TK
36 cerebellar disease 30.4 POLG MT-TK ATXN7
37 leber optic atrophy 30.4 SLC25A4 POLG MT-TL1 MT-TK MT-ND6 MT-ND5
38 muscular disease 30.2 SLC25A4 PUS1 POLG MT-TL1 MT-TK MT-ND6
39 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 12.6
40 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 12.6
41 internuclear ophthalmoplegia 12.6
42 minicore myopathy with external ophthalmoplegia 12.6
43 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 12.6
44 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 12.6
45 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 12.6
46 myopathy, proximal, and ophthalmoplegia 12.6
47 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 12.6
48 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 12.6
49 ophthalmoplegia, external, with rib and vertebral anomalies 12.5
50 spinal atrophy ophthalmoplegia pyramidal syndrome 12.5

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



Diseases related to Kearns-Sayre Syndrome

Symptoms & Phenotypes for Kearns-Sayre Syndrome

Human phenotypes related to Kearns-Sayre Syndrome:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
2 progressive external ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000590
3 third degree atrioventricular block 58 31 hallmark (90%) Very frequent (99-80%) HP:0001709
4 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
5 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
6 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
7 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
8 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
9 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
10 anterior hypopituitarism 58 31 frequent (33%) Frequent (79-30%) HP:0000830
11 ragged-red muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003200
12 progressive intervertebral space narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004622
13 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
14 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
15 seizures 31 HP:0001250
16 ptosis 31 HP:0000508
17 diabetes mellitus 31 HP:0000819
18 muscle weakness 31 HP:0001324
19 short stature 31 HP:0004322
20 microcephaly 31 HP:0000252
21 sensorineural hearing impairment 31 HP:0000407
22 arrhythmia 31 HP:0011675
23 sensory neuropathy 31 HP:0000763
24 cardiomyopathy 31 HP:0001638
25 hypoparathyroidism 31 HP:0000829
26 lactic acidosis 31 HP:0003128
27 primary adrenal insufficiency 31 HP:0008207
28 dementia 31 HP:0000726
29 increased csf protein 31 HP:0002922
30 pigmentary retinopathy 31 HP:0000580
31 renal tubular acidosis 31 HP:0001947
32 renal fanconi syndrome 31 HP:0001994
33 basal ganglia calcification 31 HP:0002135
34 sideroblastic anemia 31 HP:0001924

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
sensory neuropathy
dementia
cerebellar ataxia
basal ganglia calcifications
more
Endocrine Features:
diabetes mellitus
hypoparathyroidism
addison disease

Growth Height:
short stature

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

Hematology:
sideroblastic anemia

Head And Neck Eyes:
ptosis
progressive external ophthalmoplegia
pigmentary retinopathy

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

Head And Neck Head:
microcephaly

Metabolic Features:
lactic acidosis

Genitourinary Kidneys:
renal tubular acidosis
fanconi syndrome

Head And Neck Ears:
sensorineural hearing loss

Clinical features from OMIM:

530000

UMLS symptoms related to Kearns-Sayre Syndrome:


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

Drugs & Therapeutics for Kearns-Sayre Syndrome

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

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
2
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
3 incobotulinumtoxinA Phase 4
4 Neurotransmitter Agents Phase 4
5 Acetylcholine Release Inhibitors Phase 4
6 Neuromuscular Agents Phase 4
7 Cholinergic Agents Phase 4
8 Botulinum Toxins Phase 4
9 Botulinum Toxins, Type A Phase 4
10 abobotulinumtoxinA Phase 4
11
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
12
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
13
4-Aminopyridine Approved Phase 2 504-24-5 1727
14
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
15 Hypolipidemic Agents Phase 2
16 Antimetabolites Phase 2
17 Lipid Regulating Agents Phase 2
18 Central Nervous System Depressants Phase 2
19 GABA Agents Phase 2
20 Psychotropic Drugs Phase 2
21 Anticonvulsants Phase 2
22 Antimanic Agents Phase 2
23 Tranquilizing Agents Phase 2
24 Potassium Channel Blockers Phase 2
25
Resveratrol Approved, Experimental, Investigational 501-36-0 445154
26
Nicotinamide Approved, Investigational 98-92-0 936
27
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
28
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
29 Anti-Inflammatory Agents
30 Anti-Inflammatory Agents, Non-Steroidal
31 Platelet Aggregation Inhibitors
32 Analgesics, Non-Narcotic
33 Antioxidants
34 Protective Agents
35 Antirheumatic Agents
36 Analgesics
37 Alpha-lipoic Acid
38 Thioctic Acid
39 pyruvate
40 Ubiquinone
41 carnitine
42 Vitamins
43 Trace Elements
44 Micronutrients
45 Vitamin B Complex
46 Vitamin B3
47 Nutrients
48 Vasodilator Agents
49 Vitamin B9
50 Folate

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 An Open-Label Pilot Study to Compare the Efficacy of Escalating Doses of IncobotulinumtoxinA (Xeomin®) in the Treatment of Glabellar Rhytids Unknown status NCT01583478 Phase 4
2 Randomized, Double Blind, Active Controlled Study of the Efficacy, Surgical Outcome and Complications of Silicone Rod Sling in Frontalis Sling Suspension Surgery Completed NCT00753831 Phase 4
3 A Double Blinded Randomized Controlled Trial to Compare the Efficacy, Time to Onset, and Duration of Two Botulinum Type A Exotoxins (Onabotulinum Toxin A and Abobotulinum Toxin A) in the Treatment of "Crow's Feet." Completed NCT01529788 Phase 4 Right lateral orbital injection of Botox Cosmetic or Dysport;Left lateral orbital injection of Botox Cosmetic or Dysport
4 A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects With Primary Mitochondrial Myopathy Followed by an Open-Label Treatment Extension Active, not recruiting NCT03323749 Phase 3
5 Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy Unknown status NCT00457314 Phase 2
6 A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Mitochondrial Myopathy (MOTOR) Completed NCT02255422 Phase 2 Omaveloxolone capsules, 2.5 mg;omaveloxolone capsules, 5 mg;omaveloxolone capsules, 10 mg;Placebo capsules;omaveloxolone capsules, 20 mg;omaveloxolone capsules, TBD mg;omaveloxolone capsules, 40 mg;omaveloxolone capsules, 80 mg;omaveloxolone capsules, 160 mg
7 A Phase 1/2 Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Clinical Study Investigating the Safety, Tolerability, and Efficacy of Intravenous MTP-131 for the Treatment of Mitochondrial Myopathy in Subjects With Genetically Confirmed Mitochondrial Disease Completed NCT02367014 Phase 1, Phase 2 MTP-131;MTP-131;MTP-131;Placebo
8 An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease Completed NCT02909400 Phase 2 KH176;placebo
9 Randomized Placebo-controlled Trial of Valproic Acid in Patients With Progressive Supranuclear Palsy Completed NCT00385710 Phase 2 valproic acid;Placebo
10 A Feasibility Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
11 Study and Treatment of Visual Dysfunction and Motor Fatigue in Multiple Sclerosis Completed NCT02391961 Phase 2 Dalfampridine;Placebo
12 A Phase IIb Double-blind, Randomised, Placebo-controlled, Multi-centre, Confirmative Three-way Cross-over Study on Cognitive Function With Two Doses of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation. Recruiting NCT04165239 Phase 2 KH176;KH176;Placebo
13 A Multicenter, Open-Label Phase 2 Extension Trial to Characterize the Long-term Safety and Tolerability of Subcutaneous Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM) Active, not recruiting NCT02976038 Phase 2 elamipretide
14 A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
15 A Phase Ia/Ib, Multiple-site Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of KL1333 After a Single and Multiple Ascending Oral Doses in Healthy Subjects and Patients With Primary Mitochondrial Disease Recruiting NCT03888716 Phase 1 KL1333;Placebo Oral Tablet
16 An Open-label Study to Evaluate the Safety and Tolerability of 12 Weeks Treatment With Oral REN001 in Patients With Primary Mitochondrial Myopathy (PMM), With an Optional Extension of Treatment Recruiting NCT03862846 Phase 1 REN001
17 Safety and Tolerability of S 48168 (ARM 210) for the Treatment of RYR1-related Myopathies (RYR1-RM) Recruiting NCT04141670 Phase 1 S48168
18 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
19 Functional Assessment of the Melanopsin-Containing Retinal Ganglion Cells in Progressive Supranuclear Palsy Using Chromatic Pupillometry Unknown status NCT03330353
20 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
21 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
22 The Effect of Niacin Supplementation on Systemic Nicotinamide Adenine Dinucleotide (NAD+) Metabolism, Physiology and Muscle Performance in Healthy Controls and Mitochondrial Myopathy Patients Completed NCT03973203
23 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics of the Vastus Lateralis After Sub-maximal Exercise in Patients With Mitochondrial Myopathy Completed NCT01301235
24 Resveratrol Supplementation in Patients With Mitochondrial Myopathies and Skeletal Muscle Fatty Acid Oxidation Disorders: A Double-blind, Placebo-controlled, Cross Over Study Completed NCT03728777
25 Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy Completed NCT00004770 thioctic acid
26 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
27 Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia Completed NCT02161848
28 The Effect of Compression Stockings on Cerebral Desaturation Events in Obese Patients Undergoing Shoulder Arthroscopy in the Beach Chair Position Completed NCT01996813
29 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067
30 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
31 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
32 Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies Recruiting NCT03513835
33 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Recruiting NCT03432871
34 Executive Function Disorders and Anxio-depressive Symptomatology in Children and Adolescents With Mitochondrial Pathologies Recruiting NCT03832218
35 Prevalence of a High-intensity Signal of the Oculomotor Nerve on T2 MRI Sequence in Patients With Ophthalmoplegia Recruiting NCT03135574
36 Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA) Recruiting NCT02895789
37 Prevalence of Contrast Enhancement of the Oculomotor Nerve on 3D PD T1 MRI Sequence in Patients With Ophthalmoplegia Recruiting NCT03269682
38 Clinical and Molecular Manifestations of Inherited Neurological Disorders Recruiting NCT00004568
39 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420
40 Rare Disease Clinical Research Network Natural History of Pearson Syndrome North American Mitochondrial Disease Consortium (NAMDC) Enrolling by invitation NCT02327364
41 The Development of Minimally Invasive Nanosensor Technology to Quantify Mitochondrial Function in Human Muscle Not yet recruiting NCT04086329

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 29
2 Ophthalmoplegia 29

Anatomical Context for Kearns-Sayre Syndrome

MalaCards organs/tissues related to Kearns-Sayre Syndrome:

40
Eye, Pituitary, Heart, Brain, Retina, Skeletal Muscle, Spinal Cord

Publications for Kearns-Sayre Syndrome

Articles related to Kearns-Sayre Syndrome:

(show top 50) (show all 5820)
# Title Authors PMID Year
1
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. 61 56
16365882 2006
2
Mitochondrial DNA Deletion Syndromes 61 6
20301382 2003
3
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son. 61 56
14627683 2003
4
CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene. 61 6
11756614 2001
5
Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. 61 6
11594340 2001
6
A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. 61 6
11448301 2001
7
Mitochondrial Disorders Overview 61 6
20301403 2000
8
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. 61 56
10655159 2000
9
A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome. 61 56
10480366 1999
10
Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. 61 56
10072053 1999
11
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. 61 56
9916807 1999
12
Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. 61 56
9727847 1998
13
Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy. 61 56
9361028 1997
14
Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. 61 56
7850981 1995
15
Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? 61 56
7951243 1994
16
Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder. 61 56
8151637 1994
17
Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence. 61 56
7683627 1993
18
Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. 61 56
1635816 1992
19
Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child. 61 56
1734716 1992
20
Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. 61 56
1965208 1990
21
Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. 61 56
2395603 1990
22
Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. 61 56
2813377 1989
23
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. 61 56
2541333 1989
24
Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 61 56
3412580 1988
25
Kearns-Sayre syndrome in twins: lethal dominant mutation or acquired disease? 61 56
3412586 1988
26
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. 61 56
2895391 1988
27
Cardiomyopathy in the Kearns-Sayre syndrome. 61 56
3370184 1988
28
Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome. 61 56
3974895 1985
29
Discordant HLA haplotype segregation in a family with progressive extrinsic ophthalmoplegia and ragged red fibres. 61 56
6886725 1983
30
Autosomal dominant Kearns-Sayre syndrome. 61 56
7383548 1980
31
Basal ganglia calcification in Kearns-Sayre syndrome. 61 56
508131 1979
32
Familial Kearns-Sayre syndrome. 61 56
572507 1979
33
Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome). 61 56
758643 1979
34
Ophthalmoplegia-plus, a real nosological entity. 61 56
212920 1978
35
Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? 61 56
889288 1977
36
Familial progressive external ophthalmoplegia with abnormal muscle mitochondria. 61 56
902666 1977
37
A case of progressive external ophthalmoplegia (Kiloh-Nevin type) with abnormal mitochondria. Clinical, histochemical and ultrastructural findings. 61 56
902667 1977
38
Kearns-Sayre syndrome. A review of a multisystem disorder of children and young adults. 61 56
791168 1976
39
Familial progressive external ophthalmoplegia and ragged-red fibers. 61 56
4153849 1974
40
Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family. 61 56
5364721 1969
41
External ophthalmoplegia and complete heart block. 61 56
5762373 1969
42
Progressive ophthalmoplegia. Report of cases. 61 56
4175668 1968
43
Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. 61 56
5652994 1968
44
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 6
20550934 2010
45
Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing. 56
8155737 1994
46
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. 56
1712754 1991
47
Germ-line deletions of mtDNA in mitochondrial myopathy. 56
2014792 1991
48
Duplications of mitochondrial DNA in mitochondrial myopathy. 56
2563411 1989
49
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. 56
2830540 1988
50
The pituitary gland in the Laurence-Moon syndrome. 56
3821182 1987

Variations for Kearns-Sayre Syndrome

ClinVar genetic disease variations for Kearns-Sayre Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-TY m.5888delTdeletion Pathogenic 9551 rs118203892 MT:5885-5885 MT:5885-5885
2 MT-TY m.5877C>TSNV Pathogenic 9552 rs118203893 MT:5877-5877 MT:5877-5877
3 MT-TL1 m.3249G>ASNV Pathogenic 9599 rs199474667 MT:3249-3249 MT:3249-3249
4 covers 12 genes, none of which curated to show dosage sensitivity NC_012920.1:m.8483_13459del4977deletion Pathogenic 430680 MT:8483-13459 MT:8483-13459
5 MT-ND6 NC_012920.1:m.14563C>TSNV Uncertain significance 370059 rs1057516069 MT:14563-14563 MT:14563-14563
6 MT-CYB NC_012920.1:m.14854C>TSNV Uncertain significance 370061 rs1057516071 MT:14854-14854 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:

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 9.8 SLC25A4 SDHD SDHAF1 SDHA RRM2B PUS1
2 respiratory chain GO:0070469 9.46 MT-ND6 MT-ND5 MT-CYB MT-CO2
3 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.4 MT-ATP8 MT-ATP6
4 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP8 MT-ATP6
5 mitochondrial inner membrane GO:0005743 9.36 SLC25A4 SDHD SDHA MT-ND6 MT-ND5 MT-CYB
6 respiratory chain complex IV GO:0045277 9.32 MT-CO3 MT-CO2
7 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.26 SDHD SDHA

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 SDHD SDHA RRM2B MT-ND6 MT-ND5 MT-CYB
2 proton transmembrane transport GO:1902600 9.63 MT-CO3 MT-CO2 COX5A
3 electron transport chain GO:0022900 9.61 SDHA MT-CO2 COX5A
4 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.49 MT-ATP8 MT-ATP6
5 ATP synthesis coupled proton transport GO:0015986 9.48 MT-ATP8 MT-ATP6
6 mitochondrial DNA replication GO:0006264 9.4 RRM2B POLG
7 ATP synthesis coupled electron transport GO:0042773 9.37 MT-ND5 MT-CO2
8 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.33 MT-CO3 MT-CO2 COX5A
9 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.32 SDHD SDHA
10 respiratory electron transport chain GO:0022904 9.13 SDHA MT-CYB MT-CO3
11 response to hyperoxia GO:0055093 8.8 POLG MT-CYB MT-ATP6

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

# Name GO ID Score Top Affiliating Genes
1 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.26 SDHD SDHA
2 succinate dehydrogenase activity GO:0000104 9.16 SDHD SDHA
3 cytochrome-c oxidase activity GO:0004129 9.13 MT-CO3 MT-CO2 COX5A
4 electron transfer activity GO:0009055 9.02 SDHD SDHA MT-CYB MT-CO3 COX5A

Sources for Kearns-Sayre Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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