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
Data Licensing
For inquiries, contact:

Aliases & Classifications for Kearns-Sayre Syndrome

MalaCards integrated aliases for Kearns-Sayre Syndrome:

Name: Kearns-Sayre Syndrome 57 11 19 19 42 52 58 75 28 53 5 43 14 38 71
Ophthalmoplegia 11 75 28 43 14
Mitochondrial Cytopathy 57 19 5 71
Kss 57 19 42
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 57 19
Chronic Progressive External Ophthalmoplegia with Myopathy 57 19
Oculocraniosomatic Syndrome 57 19
Total Ophthalmoplegia 11 71
Cpeo with Myopathy 57 19
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna 19
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication O 19
Ophthalmoplegia, Progressive External, with Ragged-Red Fibers 57
Proximal Tubulopathy, Diabetes Mellitus and Cerebellar Ataxia 19
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 19
Kearns-Sayre Mitochondrial Cytopathy 42
Ophthalmoplegia-Plus Syndrome 57
Ophthalmoplegia Plus Syndrome 19
Cpeo with Ragged-Red Fibers 57
Cpeo with Ragged Red Fibers 19
Mitochondrial Myopathies 71
Oculomotor Paralysis 11

Characteristics:


Inheritance:

Autosomal recessive,Mitochondrial inheritance 58 , Mitochondrial 57

Prevelance:

1-9/100000 (Europe, United Kingdom) 1-9/1000000 (Finland) 58

Age Of Onset:

Adolescent,Adult,Childhood,Infancy 58

Age Of Death:

adolescent,adult,elderly,late childhood,normal life expectancy,young Adult 58

OMIM®:

57 (Updated 24-Oct-2022)
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


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

MedlinePlus Genetics: 42 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 ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and mitochondrial dna depletion syndrome 7, and has symptoms including cerebellar ataxia, seizures and muscle weakness. 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 Metabolism and "Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.". The drugs Dalfampridine and Clemastine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skeletal muscle, and related phenotypes are abnormality of retinal pigmentation and progressive external ophthalmoplegia

NINDS: 52 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.

GARD: 19 Kearns-Sayre syndrome (KSS) is a neuromuscular disorder defined by the triad of features: onset of symtpoms 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 genetic changes that cause problems with many of the organs and tissues in the body, resulting in multisystem effects.

Orphanet: 58 A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

Wikipedia 75 Kearns-sayre syndrome: Kearns-Sayre syndrome (KSS), oculocraniosomatic disorder or oculocranionsomatic neuromuscular disorder... more...

Ophthalmoplegia: Ophthalmoparesis refers to weakness (-paresis) or paralysis (-plegia) of one or more extraocular muscles... 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 1133)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 32.9 TYMP TWNK SDHB RRM2B POLG2 POLG
2 mitochondrial dna depletion syndrome 7 32.9 TYMP TWNK RRM2B POLG2 POLG
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 32.9 TWNK POLG
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 32.8 TYMP TWNK RRM2B POLG2 POLG
5 pearson marrow-pancreas syndrome 32.8 TWNK POLG MT-TL1 MT-ND6 MT-CYB MT-CO2
6 mitochondrial dna depletion syndrome 1 32.7 TYMP POLG2 POLG
7 mitochondrial complex ii deficiency, nuclear type 1 32.7 SDHD SDHAF1 SDHA
8 mitochondrial complex iii deficiency, nuclear type 2 32.6 TWNK SDHD POLG ATXN7
9 myopathy 32.6 TYMP TWNK SDHB SDHA RRM2B POLG2
10 mitochondrial complex iv deficiency, nuclear type 2 32.6 TYMP SDHB
11 mitochondrial myopathy 32.5 TYMP TWNK SDHB SDHA RRM2B POLG2
12 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 32.5 TYMP TWNK RRM2B POLG MT-TL1 MT-ND6
13 autosomal dominant progressive external ophthalmoplegia 32.2 TWNK RRM2B POLG2 POLG
14 retinitis pigmentosa 32.1 TWNK SDHB RRM2B POLG MT-TL1 MT-ND6
15 ptosis 32.0 TYMP TWNK RRM2B POLG2 POLG
16 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 31.9 TYMP TWNK RRM2B POLG2 POLG MT-TL1
17 mitochondrial disease 31.9 TWNK RRM2B POLG2 POLG MT-TL1 MT-ND6
18 mitochondrial encephalomyopathy 31.6 TYMP TWNK RRM2B POLG MT-TL1 MT-ND6
19 mitochondrial complex iv deficiency, nuclear type 1 31.5 MT-TL1 MT-CO2 COX5A
20 lactic acidosis 31.4 SDHB RRM2B POLG MT-TL1 MT-ND6 MT-ND5
21 neuropathy 31.3 TYMP TWNK POLG MT-ND6 MT-ND5 MT-CYB
22 cerebellar disease 31.3 TWNK POLG ATXN7
23 parkinsonism 31.2 TWNK POLG2 POLG MT-ND6 MT-ND5
24 hereditary optic neuropathy 31.2 MT-ND6 MT-ND5 MT-ATP6
25 peripheral nervous system disease 31.1 TWNK POLG MT-ND6 MT-ATP6 MAG
26 polyneuropathy 31.1 POLG2 POLG MT-ATP6 MAG
27 optic nerve disease 31.1 TWNK POLG MT-TL1 MT-ND6 MT-ND5 MT-CYB
28 myoclonic epilepsy associated with ragged-red fibers 31.0 TWNK SDHB POLG MT-TL1 MT-ND6 MT-ND5
29 ocular motility disease 31.0 TYMP TWNK RRM2B POLG2 POLG MT-ATP6
30 dystonia 30.9 SDHD SDHB SDHAF1 SDHA POLG MT-ND6
31 cranial nerve palsy 30.9 SDHD SDHB
32 camptocormism 30.9 RRM2B POLG
33 polg-related disorders 30.9 TWNK POLG
34 chondroma 30.9 SDHD SDHB SDHA
35 horner's syndrome 30.8 SDHD SDHB
36 mitochondrial dna depletion syndrome 4a 30.8 TYMP TWNK RRM2B POLG2 POLG MT-TL1
37 leber hereditary optic neuropathy, modifier of 30.8 TYMP TWNK SDHA RRM2B POLG2 POLG
38 hereditary ataxia 30.8 TWNK POLG ATXN7
39 hypertrophic cardiomyopathy 30.7 MT-TL1 MT-CYB MT-CO2 MT-ATP8 MT-ATP6
40 early myoclonic encephalopathy 30.7 TWNK SDHB POLG2 POLG MT-TL1 MT-ND6
41 mitochondrial neurogastrointestinal encephalomyopathy 30.6 TYMP RRM2B POLG
42 axonal neuropathy 30.6 TWNK RRM2B POLG2 POLG
43 myoglobinuria 30.6 SDHB MT-CYB COX5A
44 quadriplegia 30.6 SDHD SDHB SDHAF1 SDHA
45 intestinal pseudo-obstruction 30.6 TYMP POLG MT-TL1 ATXN7
46 mitochondrial dna depletion syndrome 4b 30.5 TYMP TWNK RRM2B POLG2 POLG
47 cortical blindness 30.4 POLG MT-TL1 MT-ND6 MT-ND5
48 3-methylglutaconic aciduria, type iii 30.4 TYMP TWNK SDHA RRM2B POLG2 POLG
49 mitochondrial dna depletion syndrome 30.3 TYMP TWNK RRM2B POLG2 POLG MT-TL1
50 leigh syndrome 30.2 TYMP TWNK SDHD SDHB SDHAF1 SDHA

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 30 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007703
2 progressive external ophthalmoplegia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000590
3 third degree atrioventricular block 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001709
4 ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001251
5 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
6 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
7 emg abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0003457
8 reduced tendon reflexes 58 30 Frequent (33%) Frequent (79-30%)
HP:0001315
9 anterior hypopituitarism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000830
10 ragged-red muscle fibers 58 30 Frequent (33%) Frequent (79-30%)
HP:0003200
11 progressive intervertebral space narrowing 58 30 Frequent (33%) Frequent (79-30%)
HP:0004622
12 hypotonia 30 Frequent (33%) HP:0001252
13 delayed skeletal maturation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002750
14 hemiplegia/hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004374
15 ptosis 30 HP:0000508
16 diabetes mellitus 30 HP:0000819
17 muscular hypotonia 58 Frequent (79-30%)
18 muscle weakness 30 HP:0001324
19 microcephaly 30 HP:0000252
20 sensorineural hearing impairment 30 HP:0000407
21 short stature 30 HP:0004322
22 arrhythmia 30 HP:0011675
23 hypoparathyroidism 30 HP:0000829
24 sensory neuropathy 30 HP:0000763
25 primary adrenal insufficiency 30 HP:0008207
26 lactic acidosis 30 HP:0003128
27 cardiomyopathy 30 HP:0001638
28 dementia 30 HP:0000726
29 pigmentary retinopathy 30 HP:0000580
30 renal tubular acidosis 30 HP:0001947
31 renal fanconi syndrome 30 HP:0001994
32 increased csf protein 30 HP:0002922
33 basal ganglia calcification 30 HP:0002135
34 seizure 30 HP:0001250
35 sideroblastic anemia 30 HP:0001924

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
seizures
sensory neuropathy
dementia
cerebellar ataxia
basal ganglia calcifications
more
Endocrine Features:
diabetes mellitus
hypoparathyroidism
addison disease

Head And Neck Head:
microcephaly

Metabolic Features:
lactic acidosis

Cardiovascular Heart:
cardiomyopathy
cardiac conduction defects
complete heart block

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

Growth Height:
short stature

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

Genitourinary Kidneys:
renal tubular acidosis
fanconi syndrome

Head And Neck Ears:
sensorineural hearing loss

Clinical features from OMIM®:

530000 (Updated 24-Oct-2022)

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 all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalfampridine Approved Phase 3 504-24-5 1727
2
Clemastine Approved, Investigational Phase 3 15686-51-8 26987
3
Histamine Approved, Investigational Phase 3 51-45-6 774
4 Dermatologic Agents Phase 3
5
Histamine phosphate Phase 3 51-74-1 134614
6 Histamine H1 Antagonists Phase 3
7 Histamine Antagonists Phase 3
8 Anti-Allergic Agents Phase 3
9 Neurotransmitter Agents Phase 3
10 Pharmaceutical Solutions Phase 3
11
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
12
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
13
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
14
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
15
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 2052-63-3, 22737-97-9, 22737-96-8, 68-26-8 9904001 9947823 5280382 445354
16 Potassium Channel Blockers Phase 2
17 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid Phase 2
18 Protective Agents Phase 2
19 Antioxidants Phase 2
20 Nicotinic Acids Phase 2
21 Lipid Regulating Agents Phase 2
22 Micronutrients Phase 2
23 Folate Phase 2
24 Vitamins Phase 2
25 Trace Elements Phase 2
26 Antimetabolites Phase 2
27 Vitamin B9 Phase 2
28 Vitamin B3 Phase 2
29 Vitamin B Complex Phase 2
30 Hypolipidemic Agents Phase 2
31 Vasodilator Agents Phase 2
32 Retinol palmitate Phase 2
33
Lipoic acid Approved, Investigational, Nutraceutical 1077-27-6, 1200-22-2 864 445125 6112
34
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental 461-06-3
35
Resveratrol Investigational 501-36-0 445154
36 Platelet Aggregation Inhibitors
37 Pyruvate
38 Alpha-lipoic Acid
39 Radiopharmaceuticals
40 Fluorodeoxyglucose F18
41 Fluorides

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 Clemastine Fumarate as Remyelinating Treatment in Internuclear Ophthalmoparesis and Multiple Sclerosis Recruiting NCT05338450 Phase 3 Clemastine Fumarate;Placebo
2 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 Disease Resulting From Pathogenic Nuclear DNA Mutations (nPMD) NuPower Recruiting NCT05162768 Phase 3 Elamipretide;Placebo
3 A Randomized, Double-blind, Placebo-controlled Adaptive Phase 2/3 Study With Open-label Extension to Assess the Efficacy, Safety and Tolerability of ASP0367 in Participants With Primary Mitochondrial Myopathy Recruiting NCT04641962 Phase 2, Phase 3 Bocidelpar;Placebo
4 An Open-label, Multi-centre Study to Evaluate the Long-term Safety and Tolerability of REN001 in Subjects With Primary Mitochondrial Myopathy (PMM) Recruiting NCT05267574 Phase 2, Phase 3 REN001
5 A Phase 3 Randomized, 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 Terminated NCT03323749 Phase 3
6 Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy Unknown status NCT00457314 Phase 2
7 Study and Treatment of Visual Dysfunction and Motor Fatigue in Multiple Sclerosis Completed NCT02391961 Phase 2 Dalfampridine;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 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, 40 mg;omaveloxolone capsules, 80 mg;omaveloxolone capsules, 160 mg
10 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. Completed NCT04165239 Phase 2 KH176;Placebo
11 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Crossover Study to Evaluate Safety, Tolerability, and Efficacy of Subcutaneous Injections of MTP-131 in Subjects With Mitochondrial Myopathy Previously Treated in the SPIMM-201 Study Completed NCT02805790 Phase 2 Elamipretide;Placebo
12 A Feasibility Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
13 Phase 1/2 Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Clinical Study for the Safety, Tolerability, and Efficacy of IV MTP-131 for Mitochondrial Myopathy in Genetically Confirmed Mitochondrial Disease Completed NCT02367014 Phase 1, Phase 2 elamipretide (low dose);elamipretide (intermediate dose);elamipretide (high dose);Placebo
14 A Phase IIb Open-label, Multi-centre, Extension Study to Explore the Long-term Safety and Efficacy of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation Who Have Completed the KHENERGYZE Study KH176-202. Recruiting NCT04604548 Phase 2 Oral administration of 100 mg KH176 twice daily
15 A Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of 24 Weeks Treatment With REN001 in Patients With Primary Mitochondrial Myopathy Recruiting NCT04535609 Phase 2 REN001;Placebo
16 Randomized, Double-blinded, Placebo-controlled Study Evaluating the Efficacy of Nicotinamide Riboside (NR) - a Vitamin B3 Derivative - for Treatment of Mitochondrial Myopathy Disorder Not yet recruiting NCT05590468 Phase 2 Placebo
17 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) Terminated NCT02976038 Phase 2 elamipretide
18 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 Completed NCT03888716 Phase 1 KL1333;Placebo Oral Tablet
19 Assess Safety of Intra-arterial Autologous Myogenic Stem Cell Therapy for m.3243A>G Mutation Carriers Recruiting NCT05063721 Phase 1
20 The Utility of pGz in Primary Mitochondrial Disorders Not yet recruiting NCT05569122 Phase 1 Lumason® contrast agent
21 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 Terminated NCT03862846 Phase 1 REN001
22 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Unknown status NCT03432871
23 Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies Unknown status NCT03513835
24 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
25 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
26 Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia Completed NCT02161848
27 Prevalence of Contrast Enhancement of the Oculomotor Nerve on 3D PD T1 MRI Sequence in Patients With Ophthalmoplegia Completed NCT03269682
28 Prevalence of a High-intensity Signal of the Oculomotor Nerve on T2 MRI Sequence in Patients With Ophthalmoplegia Completed NCT03135574
29 Resveratrol Supplementation in Patients With Mitochondrial Myopathies and Skeletal Muscle Fatty Acid Oxidation Disorders: A Double-blind, Placebo-controlled, Cross Over Study Completed NCT03728777
30 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
31 NiaMIT (NiaMIT_0001) Continuation for Early-stage Mitochondrial Myopathy Patients to Investigate the Effect of Niacin Supplementation on Systemic Nicotinamide Adenine Dinucleotide (NAD+) Metabolism, Physiology and Muscle Performance Completed NCT04538521
32 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
33 Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA) Completed NCT02895789
34 Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics of the Vastus Lateralis After Sub-maximal Exercise in Patients With Mitochondrial Myopathy Completed NCT01301235
35 Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy Completed NCT00004770 thioctic acid
36 Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Recruiting NCT05012358
37 Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders Recruiting NCT05554835
38 Foundation Fighting Blindness My Retina Tracker Registry Recruiting NCT02435940
39 A Randomized Cross-Over Clinical Trial Comparing Two Non-Surgical Treatments for Severe Blepharoptosis Recruiting NCT04678115
40 The Investigation of Capsular Tension Rings in Intraocular Lens Rotation Recruiting NCT04436198
41 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420
42 The Development of Minimally Invasive Nanosensor Technology to Quantify Mitochondrial Function in Human Muscle Recruiting NCT04086329
43 Video Consultation and Mitochondrial Myopathies: Study of Efficacy and Tolerance of a Personalized Training Program at Home Recruiting NCT05346627
44 Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders Recruiting NCT05200702
45 Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders Recruiting NCT05199246
46 Development and Validation of a Myopathy Rating Scale in Mitochondrial Disease Recruiting NCT05250375
47 Assess the mtDNA Mutation Load in Mesoangioblasts of mtDNA Mutation Carriers Not yet recruiting NCT05199740
48 A Single Case Study of Hypermetabolism Suspended NCT04805268

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 28
2 Ophthalmoplegia 28

Anatomical Context for Kearns-Sayre Syndrome

Organs/tissues related to Kearns-Sayre Syndrome:

MalaCards : Eye, Retina, Skeletal Muscle, Spinal Cord, Heart, Kidney, Brain

Publications for Kearns-Sayre Syndrome

Articles related to Kearns-Sayre Syndrome:

(show top 50) (show all 6970)
# Title Authors PMID Year
1
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. 62 57
16365882 2006
2
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son. 62 57
14627683 2003
3
CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene. 62 5
11756614 2001
4
Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. 62 5
11594340 2001
5
A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. 62 5
11448301 2001
6
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. 62 57
10655159 2000
7
A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome. 62 57
10480366 1999
8
Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. 62 57
10072053 1999
9
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. 62 57
9916807 1999
10
Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. 62 57
9727847 1998
11
Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy. 62 57
9361028 1997
12
Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. 62 57
7850981 1995
13
Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? 62 57
7951243 1994
14
Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder. 62 57
8151637 1994
15
Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence. 62 57
7683627 1993
16
Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. 62 57
1635816 1992
17
Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child. 62 57
1734716 1992
18
Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. 62 57
1965208 1990
19
Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. 62 57
2395603 1990
20
Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. 62 57
2813377 1989
21
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. 62 57
2541333 1989
22
Kearns-Sayre syndrome and complex II deficiency. 62 57
2710360 1989
23
Kearns-Sayre syndrome in twins: lethal dominant mutation or acquired disease? 62 57
3412586 1988
24
Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 62 57
3412580 1988
25
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. 62 57
2895391 1988
26
Cardiomyopathy in the Kearns-Sayre syndrome. 62 57
3370184 1988
27
Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome. 62 57
3974895 1985
28
Discordant HLA haplotype segregation in a family with progressive extrinsic ophthalmoplegia and ragged red fibres. 62 57
6886725 1983
29
Mitochondrial inheritance in a mitochondrially mediated disease. 62 57
6866014 1983
30
Autosomal dominant Kearns-Sayre syndrome. 62 57
7383548 1980
31
Basal ganglia calcification in Kearns-Sayre syndrome. 62 57
508131 1979
32
Familial Kearns-Sayre syndrome. 62 57
572507 1979
33
Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome). 62 57
758643 1979
34
Ophthalmoplegia-plus, a real nosological entity. 62 57
212920 1978
35
Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? 62 57
889288 1977
36
A case of progressive external ophthalmoplegia (Kiloh-Nevin type) with abnormal mitochondria. Clinical, histochemical and ultrastructural findings. 62 57
902667 1977
37
Familial progressive external ophthalmoplegia with abnormal muscle mitochondria. 62 57
902666 1977
38
Kearns-Sayre syndrome. A review of a multisystem disorder of children and young adults. 62 57
791168 1976
39
Familial progressive external ophthalmoplegia and ragged-red fibers. 62 57
4153849 1974
40
Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family. 62 57
5364721 1969
41
External ophthalmoplegia and complete heart block. 62 57
5762373 1969
42
Progressive ophthalmoplegia. Report of cases. 62 57
4175668 1968
43
Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. 62 57
5652994 1968
44
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 5
20550934 2010
45
Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing. 57
8155737 1994
46
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. 57
1712754 1991
47
Germ-line deletions of mtDNA in mitochondrial myopathy. 57
2014792 1991
48
Duplications of mitochondrial DNA in mitochondrial myopathy. 57
2563411 1989
49
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. 57
2830540 1988
50
The pituitary gland in the Laurence-Moon syndrome. 57
3821182 1987

Variations for Kearns-Sayre Syndrome

ClinVar genetic disease variations for Kearns-Sayre Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TY m.5888delT DEL Pathogenic
9551 rs118203892 GRCh37: MT:5885-5885
GRCh38: MT:5885-5885
2 MT-TY m.5877C>T SNV Pathogenic
9552 rs118203893 GRCh37: MT:5877-5877
GRCh38: MT:5877-5877
3 MT-TL1 m.3249G>A SNV Pathogenic
9599 rs199474667 GRCh37: MT:3249-3249
GRCh38: MT:3249-3249
4 MT-ND6 NC_012920.1:m.14563C>T SNV Uncertain Significance
370059 rs1057516069 GRCh37: MT:14563-14563
GRCh38: MT:14563-14563
5 MT-CYB NC_012920.1:m.14854C>T SNV Uncertain Significance
370061 rs1057516071 GRCh37: MT:14854-14854
GRCh38: MT:14854-14854
6 overlap with 12 genes NC_012920.1:m.8483_13459del4977 DEL Not Provided
430680 GRCh37: MT:8470-13446
GRCh38: MT:8470-13446

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 COX5A MT-ATP6 MT-ATP8 MT-CO2 MT-CYB MT-ND5
2
Show member pathways
12.08 SDHD SDHB SDHA MT-ND6 MT-ND5 MT-CYB
3
Show member pathways
11.9 TWNK POLG2 MT-ATP8 MT-ATP6
4
Show member pathways
11.62 SDHD SDHB SDHA
5
Show member pathways
11.49 SDHD SDHB SDHA
6 11.44 RRM2B MT-CO2 COX5A
7 10.71 RRM2B POLG
8
Show member pathways
10.34 SDHD SDHB SDHAF1 SDHA

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 mitochondrial inner membrane GO:0005743 9.96 COX5A MT-ATP6 MT-ATP8 MT-CO2 MT-CYB MT-ND5
2 mitochondrial nucleoid GO:0042645 9.88 TWNK POLG2 POLG
3 mitochondrial membrane GO:0031966 9.8 SDHB MT-ND6 MT-CO2 MT-ATP8 COX5A
4 mitochondrion GO:0005739 9.74 TWNK SDHD SDHB SDHAF1 SDHA RRM2B
5 gamma DNA polymerase complex GO:0005760 9.67 POLG2 POLG
6 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.63 SDHD SDHB SDHA
7 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.61 MT-ATP8 MT-ATP6
8 respirasome GO:0070469 9.56 MT-ND6 MT-ND5 MT-CYB MT-CO2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 10.02 COX5A MT-ATP6 MT-ATP8 MT-CO2 MT-CYB
2 aerobic respiration GO:0009060 10 SDHB MT-ND6 MT-ND5
3 cellular respiration GO:0045333 9.95 MT-CYB MT-CO2 COX5A
4 tricarboxylic acid cycle GO:0006099 9.85 SDHD SDHB SDHA
5 succinate metabolic process GO:0006105 9.76 SDHB SDHA
6 DNA replication GO:0006260 9.73 TWNK RRM2B POLG2 POLG
7 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.73 SDHD SDHB SDHA
8 respiratory electron transport chain GO:0022904 9.7 SDHB SDHA POLG2 MT-CYB
9 electron transport chain GO:0022900 9.69 SDHB SDHA MT-CO2
10 ATP synthesis coupled electron transport GO:0042773 9.58 MT-ND5 MT-CO2
11 mitochondrial DNA replication GO:0006264 9.56 TWNK RRM2B POLG2 POLG
12 nucleobase-containing small molecule metabolic process GO:0055086 9.49 SDHB RRM2B
13 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.47 SDHD SDHB SDHA MT-ND6 MT-ND5 MT-ATP8

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 SDHB SDHA RRM2B MT-CYB MT-CO2
2 electron transfer activity GO:0009055 9.61 SDHD SDHB SDHA MT-CYB COX5A
3 ubiquinone binding GO:0048039 9.46 SDHD SDHB
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.1 SDHD SDHB SDHA

Sources for Kearns-Sayre Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....