KSS
MCID: KRN002
MIFTS: 64

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 57 12 75 53 25 54 59 37 55 44 15 40 72
Mitochondrial Cytopathy 57 53 6 72
Ophthalmoplegia 12 29 44 15
Kss 57 53 25
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 57 53
Chronic Progressive External Ophthalmoplegia with Myopathy 57 53
Oculocraniosomatic Syndrome 57 53
Total Ophthalmoplegia 12 72
Kearns Sayre Syndrome 29 6
Cpeo with Myopathy 57 53
Ophthalmoplegia, Progressive External, with Ragged-Red Fibers 57
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 53
Kearns-Sayre Mitochondrial Cytopathy 25
Ophthalmoplegia-Plus Syndrome 57
Ophthalmoplegia Plus Syndrome 53
Cpeo with Ragged-Red Fibers 57
Cpeo with Ragged Red Fibers 53
Mitochondrial Myopathies 72
Oculomotor Paralysis 12

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
kearns-sayre syndrome:
Inheritance mitochondrial inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12934 DOID:539
OMIM 57 530000
KEGG 37 H01355
ICD9CM 35 378.56
ICD10 33 H49.3 H49.81
MESH via Orphanet 45 D007625
ICD10 via Orphanet 34 H49.8
UMLS via Orphanet 73 C0022541
Orphanet 59 ORPHA480
MedGen 42 C0022541
UMLS 72 C0022541 C0029089 C0155338 more

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 pearson marrow-pancreas syndrome and autosomal dominant 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 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 : 53 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 : 54 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 : 37
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 : 75 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 909)
# Related Disease Score Top Affiliating Genes
1 pearson marrow-pancreas syndrome 34.2 PUS1 MT-CO2
2 autosomal dominant progressive external ophthalmoplegia 34.1 TFAM SLC25A4 RRM2B POLG
3 chronic progressive external ophthalmoplegia 34.0 SLC25A4 RRM2B POLG COX5A
4 mitochondrial dna depletion syndrome 1 33.2 POLG MT-TK MT-CO3 MT-CO2 MT-ATP8 MT-ATP6
5 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.9 POLG MT-TL1 MT-ND6 MT-CO3 MT-CO2 MT-CO1
6 myasthenic syndrome, congenital, 10 32.5 MT-CYB MT-CO2 MT-CO1
7 ataxia and polyneuropathy, adult-onset 32.3 MT-CO3 MT-ATP8 MT-ATP6
8 mitochondrial disorders 31.9 TFAM SLC25A4 MT-ATP6 COX5A
9 ptosis 31.8 RRM2B POLG KIF21A
10 aceruloplasminemia 31.8 POLG MT-ATP6 ATXN7
11 sideroblastic anemia 31.5 PUS1 MT-CO1 MT-ATP6
12 polyneuropathy 31.4 POLG MT-ATP6 MAG
13 mitochondrial complex iv deficiency 31.4 MT-TL1 MT-CO3 MT-CO2 MT-CO1 COX5A
14 diabetes and deafness, maternally inherited 31.1 MT-TL1 MT-TK
15 peripheral nervous system disease 31.1 POLG MT-ND6 MAG KIF21A
16 lactic acidosis 31.0 PUS1 POLG MT-ND6 MT-CYB MT-CO3 MT-CO1
17 mitochondrial neurogastrointestinal encephalomyopathy 31.0 RRM2B POLG MT-TK
18 myoglobinuria, recurrent 30.7 MT-CO1 COX5A
19 mitochondrial encephalomyopathy 30.7 MT-TL1 MT-TK MT-ND6 MT-CYB MT-CO3 MT-CO2
20 mitochondrial metabolism disease 30.6 TFAM SLC25A4 RRM2B POLG MT-TL1 MT-ND6
21 myoclonic epilepsy associated with ragged-red fibers 30.4 TFAM POLG MT-TL1 MT-TK CPOX COX5A
22 leber optic atrophy 30.1 MT-ND6 MT-CYB MT-CO3 MT-CO2 MT-CO1 MT-ATP8
23 mitochondrial myopathy 30.0 TFAM SLC25A4 PUS1 POLG MT-TL1 MT-ND6
24 leigh syndrome 29.0 POLG MT-TL1 MT-TK MT-ND6 MT-CYB MT-CO3
25 internuclear ophthalmoplegia 12.6
26 minicore myopathy with external ophthalmoplegia 12.6
27 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 12.6
28 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 12.6
29 myopathy, proximal, and ophthalmoplegia 12.6
30 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 12.6
31 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 12.6
32 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 12.5
33 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 12.5
34 ophthalmoplegia, external, with rib and vertebral anomalies 12.5
35 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 12.5
36 spinal atrophy ophthalmoplegia pyramidal syndrome 12.5
37 obsolete: nuclear oculomotor paralysis 12.4
38 mitochondrial dna-related progressive external ophthalmoplegia 12.4
39 visceral myopathy, familial, with external ophthalmoplegia 12.4
40 ophthalmoplegia totalis with ptosis and miosis 12.3
41 exophthalmic ophthalmoplegia 12.3
42 ophthalmoplegia, external, and myopia 12.3
43 ophthalmoplegia, familial static 12.2
44 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency 12.2
45 mitochondrial dna depletion syndrome 7 12.2
46 ophthalmoplegia, familial total, with iris transillumination 12.2
47 motor neuron disease with dementia and ophthalmoplegia 12.2
48 total internal ophthalmoplegia 12.1
49 gaucher disease - ophthalmoplegia - cardiovascular calcification 12.1
50 fibrosis of extraocular muscles, congenital, 1 12.1

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:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
2 progressive external ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000590
3 third degree atrioventricular block 59 32 hallmark (90%) Very frequent (99-80%) HP:0001709
4 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
5 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
6 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
7 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
8 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
9 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
10 anterior hypopituitarism 59 32 frequent (33%) Frequent (79-30%) HP:0000830
11 ragged-red muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003200
12 progressive intervertebral space narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004622
13 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
14 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
15 ptosis 32 HP:0000508
16 diabetes mellitus 32 HP:0000819
17 seizures 32 HP:0001250
18 muscle weakness 32 HP:0001324
19 microcephaly 32 HP:0000252
20 sensorineural hearing impairment 32 HP:0000407
21 short stature 32 HP:0004322
22 arrhythmia 32 HP:0011675
23 sensory neuropathy 32 HP:0000763
24 cardiomyopathy 32 HP:0001638
25 hypoparathyroidism 32 HP:0000829
26 lactic acidosis 32 HP:0003128
27 primary adrenal insufficiency 32 HP:0008207
28 dementia 32 HP:0000726
29 increased csf protein 32 HP:0002922
30 pigmentary retinopathy 32 HP:0000580
31 renal tubular acidosis 32 HP:0001947
32 renal fanconi syndrome 32 HP:0001994
33 basal ganglia calcification 32 HP:0002135
34 sideroblastic anemia 32 HP:0001924

Symptoms via clinical synopsis from OMIM:

57
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

Hematology:
sideroblastic anemia

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

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

MGI Mouse Phenotypes related to Kearns-Sayre Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 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):

(show top 50) (show all 73)
# 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 Peripheral Nervous System Agents Phase 4
5 Neurotransmitter Agents Phase 4
6 Neuromuscular Agents Phase 4
7 Cholinergic Agents Phase 4
8 Acetylcholine Release Inhibitors Phase 4
9 Botulinum Toxins Phase 4
10 Botulinum Toxins, Type A Phase 4
11 abobotulinumtoxinA Phase 4
12
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
13
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
14
4-Aminopyridine Approved Phase 2 504-24-5 1727
15
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
16 Lipid Regulating Agents Phase 2
17 Hypolipidemic Agents Phase 2
18 Antimetabolites Phase 2
19 Tranquilizing Agents Phase 2
20 Central Nervous System Depressants Phase 2
21 Psychotropic Drugs Phase 2
22 GABA Agents Phase 2
23 Anticonvulsants Phase 2
24 Antimanic Agents Phase 2
25 Potassium Channel Blockers Phase 2
26
Nicotinamide Approved, Investigational 98-92-0 936
27
Resveratrol Approved, Experimental, Investigational 501-36-0 445154
28
Heparin Approved, Investigational 9005-49-6 46507594 772
29
Glycerol Approved, Investigational 56-81-5 753
30
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
31
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
32
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
33
Calcium Approved, Nutraceutical 7440-70-2 271
34
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
35 Tocotrienol Investigational 6829-55-6
36 Alpha-lipoic Acid
37 Thioctic Acid
38 Ubiquinone
39 carnitine
40 Vitamin B9
41 Folate
42 Vitamin B3
43 Vitamin B Complex
44 Nicotinic Acids
45 Vasodilator Agents
46 Analgesics, Non-Narcotic
47 Antineoplastic Agents, Phytogenic
48 Analgesics
49 Anti-Inflammatory Agents, Non-Steroidal
50 Anti-Inflammatory Agents

Interventional clinical trials:

(show all 45)
# 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 Fatty Acid Oxidation and Body Weight Regulation in Long-chain Fatty Acid Oxidation Disorders. Completed NCT01494051 Phase 1, Phase 2
8 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
9 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
10 Randomized Placebo-controlled Trial of Valproic Acid in Patients With Progressive Supranuclear Palsy Completed NCT00385710 Phase 2 valproic acid;Placebo
11 A Feasibility Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
12 Study and Treatment of Visual Dysfunction and Motor Fatigue in Multiple Sclerosis Completed NCT02391961 Phase 2 Dalfampridine;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 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
18 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
19 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
20 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
21 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics of the Vastus Lateralis After Sub-maximal Exercise in Patients With Mitochondrial Myopathy Completed NCT01301235
22 Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy Completed NCT00004770 thioctic acid
23 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
24 Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia Completed NCT02161848
25 Fatty Acid Oxidation Disorders & Body Weight Regulation Completed NCT00654004
26 Retrospective Cohort Study Assessing the Natural Course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and Sporadic and Hereditary Inclusion Body Myopathies (IBM) Completed NCT01902940
27 The Effect of Compression Stockings on Cerebral Desaturation Events in Obese Patients Undergoing Shoulder Arthroscopy in the Beach Chair Position Completed NCT01996813
28 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067
29 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
30 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
31 Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies Recruiting NCT03513835
32 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Recruiting NCT03432871
33 Resveratrol Supplementation in Patients With Mitochondrial Myopathies and Skeletal Muscle Fatty Acid Oxidation Disorders: A Double-blind, Placebo-controlled, Cross Over Study Recruiting NCT03728777
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 Role of Fatty Acid Oxidation Defects in Insulin Sensitivity Recruiting NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
39 Clinical and Molecular Manifestations of Inherited Neurological Disorders Recruiting NCT00004568
40 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420
41 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
42 Functional Assessment of the Melanopsin-Containing Retinal Ganglion Cells in Progressive Supranuclear Palsy Using Chromatic Pupillometry Recruiting NCT03330353
43 Dietary Therapy for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin
44 Rare Disease Clinical Research Network Natural History of Pearson Syndrome North American Mitochondrial Disease Consortium (NAMDC) Enrolling by invitation NCT02327364
45 Vitamin E Treatment for LCHAD Associated Neuropathy Terminated NCT00840112

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:

41
Eye, Pituitary, Heart, Retina, Brain, Skeletal Muscle, Spinal Cord

Publications for Kearns-Sayre Syndrome

Articles related to Kearns-Sayre Syndrome:

(show top 50) (show all 5732)
# Title Authors PMID Year
1
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. 38 8
16365882 2006
2
Mitochondrial DNA Deletion Syndromes 38 71
20301382 2003
3
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son. 38 8
14627683 2003
4
CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene. 38 71
11756614 2001
5
Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. 38 71
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. 38 71
11448301 2001
7
Mitochondrial Disorders Overview 38 71
20301403 2000
8
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. 38 8
10655159 2000
9
A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome. 38 8
10480366 1999
10
Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. 38 8
10072053 1999
11
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. 38 8
9916807 1999
12
Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. 38 8
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. 38 8
9361028 1997
14
Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. 38 8
7850981 1995
15
Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? 38 8
7951243 1994
16
Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder. 38 8
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. 38 8
7683627 1993
18
Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. 38 8
1635816 1992
19
Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child. 38 8
1734716 1992
20
Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. 38 8
1965208 1990
21
Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. 38 8
2395603 1990
22
Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. 38 8
2813377 1989
23
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. 38 8
2541333 1989
24
Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 38 8
3412580 1988
25
Kearns-Sayre syndrome in twins: lethal dominant mutation or acquired disease? 38 8
3412586 1988
26
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. 38 8
2895391 1988
27
Cardiomyopathy in the Kearns-Sayre syndrome. 38 8
3370184 1988
28
Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome. 38 8
3974895 1985
29
Discordant HLA haplotype segregation in a family with progressive extrinsic ophthalmoplegia and ragged red fibres. 38 8
6886725 1983
30
Autosomal dominant Kearns-Sayre syndrome. 38 8
7383548 1980
31
Basal ganglia calcification in Kearns-Sayre syndrome. 38 8
508131 1979
32
Familial Kearns-Sayre syndrome. 38 8
572507 1979
33
Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome). 38 8
758643 1979
34
Ophthalmoplegia-plus, a real nosological entity. 38 8
212920 1978
35
Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? 38 8
889288 1977
36
Familial progressive external ophthalmoplegia with abnormal muscle mitochondria. 38 8
902666 1977
37
A case of progressive external ophthalmoplegia (Kiloh-Nevin type) with abnormal mitochondria. Clinical, histochemical and ultrastructural findings. 38 8
902667 1977
38
Kearns-Sayre syndrome. A review of a multisystem disorder of children and young adults. 38 8
791168 1976
39
Familial progressive external ophthalmoplegia and ragged-red fibers. 38 8
4153849 1974
40
Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family. 38 8
5364721 1969
41
External ophthalmoplegia and complete heart block. 38 8
5762373 1969
42
Progressive ophthalmoplegia. Report of cases. 38 8
4175668 1968
43
Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. 38 8
5652994 1968
44
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 71
20550934 2010
45
Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing. 8
8155737 1994
46
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. 8
1712754 1991
47
Germ-line deletions of mtDNA in mitochondrial myopathy. 8
2014792 1991
48
Duplications of mitochondrial DNA in mitochondrial myopathy. 8
2563411 1989
49
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. 8
2830540 1988
50
The pituitary gland in the Laurence-Moon syndrome. 8
3821182 1987

Variations for Kearns-Sayre Syndrome

ClinVar genetic disease variations for Kearns-Sayre Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MT-TY m.5888delT deletion Pathogenic rs118203892 MT:5888-5888 MT:5888-5888
2 MT-TY m.5877C> T single nucleotide variant Pathogenic rs118203893 MT:5877-5877 MT:5877-5877
3 MT-TL1 m.3249G> A single nucleotide variant Pathogenic rs199474667 MT:3249-3249 MT:3249-3249
4 MT-CYB NC_012920.1: m.14854C> T single nucleotide variant Uncertain significance rs1057516071 MT:14854-14854 MT:14854-14854
5 MT-ND6 NC_012920.1: m.14563C> T single nucleotide variant Uncertain significance rs1057516069 MT:14563-14563 MT:14563-14563

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:

37
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190
2 Cardiac muscle contraction hsa04260

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 SLC25A4 RRM2B MT-ND6 MT-CYB MT-CO3 MT-CO2
2
Show member pathways
13.11 TFAM SLC25A4 MT-ND6 MT-CYB MT-CO3 MT-CO2
3
Show member pathways
12.59 RRM2B MT-CO3 MT-CO2 MT-CO1 COX5A
4
Show member pathways
11.69 RRM2B MT-ATP8 MT-ATP6
5 11.28 RRM2B MT-CO3 MT-CO2 MT-CO1 COX5A
6 10.96 MT-CYB MT-CO3 MT-CO2 MT-CO1 COX5A
7 10.54 RRM2B POLG

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 9.73 TFAM SLC25A4 RRM2B PUS1 POLG MT-CYB
2 respiratory chain GO:0070469 9.62 MT-ND6 MT-CYB MT-CO2 MT-CO1
3 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.43 MT-ATP8 MT-ATP6
4 respiratory chain complex IV GO:0045277 9.43 MT-CO3 MT-CO2 MT-CO1
5 mitochondrial respiratory chain complex III GO:0005750 9.4 MT-CYB MT-CO1
6 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP8 MT-ATP6
7 mitochondrial inner membrane GO:0005743 9.28 SLC25A4 MT-ND6 MT-CYB MT-CO3 MT-CO2 MT-CO1
8 mitochondrial respiratory chain complex IV GO:0005751 9.16 MT-CO1 COX5A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 RRM2B MT-ND6 MT-CYB MT-CO2 MT-CO1 CPOX
2 electron transport chain GO:0022900 9.58 MT-CO2 MT-CO1 COX5A
3 cristae formation GO:0042407 9.52 MT-ATP8 MT-ATP6
4 ATP biosynthetic process GO:0006754 9.51 MT-ATP8 MT-ATP6
5 ATP synthesis coupled proton transport GO:0015986 9.49 MT-ATP8 MT-ATP6
6 response to copper ion GO:0046688 9.48 MT-CYB MT-CO1
7 respiratory electron transport chain GO:0022904 9.46 MT-CYB MT-CO3
8 proton transmembrane transport GO:1902600 9.46 MT-CO3 MT-CO2 MT-CO1 COX5A
9 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.43 MT-ATP8 MT-ATP6
10 mitochondrial DNA replication GO:0006264 9.37 RRM2B POLG
11 electron transport coupled proton transport GO:0015990 9.26 MT-CYB MT-CO1
12 response to hyperoxia GO:0055093 9.13 POLG MT-CYB MT-ATP6
13 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.92 MT-CO3 MT-CO2 MT-CO1 COX5A

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.43 SLC25A4 MT-ATP8 MT-ATP6
2 oxidoreductase activity GO:0016491 9.35 RRM2B MT-CYB MT-CO2 MT-CO1 CPOX
3 electron transfer activity GO:0009055 9.33 MT-CYB MT-CO3 COX5A
4 proton transmembrane transporter activity GO:0015078 9.32 MT-ATP8 MT-ATP6
5 cytochrome-c oxidase activity GO:0004129 8.92 MT-CO3 MT-CO2 MT-CO1 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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