Kearns-Sayre Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

Extraocular Muscle Paralysis ¹¹

Cpeo with Ragged-Red Fibers ⁵⁷

Cpeo with Ragged Red Fibers ¹⁹

Mitochondrial Myopathies ⁷¹

Eye Movement Paralysis ¹¹

Oculomotor Paralysis ¹¹

Characteristics:

Inheritance:

Autosomal recessive,Mitochondrial inheritance ⁵⁸ , Mitochondrial ⁵⁷

Prevelance:

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

Age Of Onset:

Adolescent,Adult,Childhood,Infancy ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-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:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases
Anatomical: Eye diseases Neuronal diseases Ear diseases Endocrine diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the eye and adnexa

Disorders of ocular muscles, binocular movement, accommodation and refraction

Paralytic strabismus

Other paralytic strabismus

Total (external) ophthalmoplegia

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Rare otorhinolaryngological diseases

Inborn errors of metabolism

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Sources

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 muscle weakness, ophthalmoplegia 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 Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Dalfampridine and Histamine 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

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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 1112)

#	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	32.6	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	31.4	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	myoclonic epilepsy associated with ragged-red fibers	31.0	TWNK SDHB POLG MT-TL1 MT-ND6 MT-ND5
28	ocular motility disease	31.0	TYMP TWNK RRM2B POLG2 POLG MT-ATP6
29	dystonia	30.9	SDHD SDHB SDHAF1 SDHA POLG MT-ND6
30	optic nerve disease	30.9	TWNK POLG MT-TL1 MT-ND6 MT-ND5 MT-CYB
31	camptocormism	30.9	RRM2B POLG
32	cranial nerve palsy	30.9	SDHD SDHB
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	30.7	TWNK POLG ATXN7
39	hypertrophic cardiomyopathy	30.7	POLG 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:

Sources

Symptoms & Phenotypes for Kearns-Sayre Syndrome

Human phenotypes related to Kearns-Sayre Syndrome:

⁵⁸ ³⁰ (show all 34)

#	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	hypotonia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001252
6	hearing impairment ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000365
7	skeletal muscle atrophy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003202
8	emg abnormality ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003457
9	reduced tendon reflexes ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001315
10	anterior hypopituitarism ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000830
11	ragged-red muscle fibers ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003200
12	progressive intervertebral space narrowing ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004622
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	seizure ³⁰			HP:0001250
16	ptosis ³⁰			HP:0000508
17	diabetes mellitus ³⁰			HP:0000819
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	sideroblastic anemia ³⁰			HP:0001924

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Metabolic Features:
lactic acidosis

Cardiovascular Heart:
cardiomyopathy
cardiac conduction defects
complete heart block

Hematology:
sideroblastic anemia

Endocrine Features:
diabetes mellitus
hypoparathyroidism
addison disease

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
sensory neuropathy
dementia
seizures
cerebellar ataxia
basal ganglia calcifications
more

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 08-Dec-2022)

UMLS symptoms related to Kearns-Sayre Syndrome:

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

Sources

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

Histamine

Approved, Investigational

Phase 3

51-45-6

774

3

Clemastine

Approved, Investigational

Phase 3

15686-51-8

26987

4

Neurotransmitter Agents

Phase 3

5

Anti-Allergic Agents

Phase 3

6

Histamine phosphate

Phase 3

51-74-1

134614

7

Histamine H1 Antagonists

Phase 3

8

Histamine Antagonists

Phase 3

9

Dermatologic 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

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 2

59-30-3

6037

14

Niacin

Approved, Investigational, Nutraceutical

Phase 2

59-67-6

938

15

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 2

22737-96-8, 68-26-8

5280382 445354

16

Potassium Channel Blockers

Phase 2

17

6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid

Phase 2

18

Antioxidants

Phase 2

19

Protective Agents

Phase 2

20

Folate

Phase 2

21

Vitamins

Phase 2

22

Vitamin B9

Phase 2

23

Vitamin B3

Phase 2

24

Trace Elements

Phase 2

25

Nicotinic Acids

Phase 2

26

Antimetabolites

Phase 2

27

Vasodilator Agents

Phase 2

28

Vitamin B Complex

Phase 2

29

Hypolipidemic Agents

Phase 2

30

Lipid Regulating Agents

Phase 2

31

Micronutrients

Phase 2

32

Retinol palmitate

Phase 2

33

Lipoic acid

Approved, Investigational, Nutraceutical

1200-22-2

864 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

Alpha-lipoic Acid

38

Pyruvate

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	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
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	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
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	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
13	A Feasibility Study of Bezafibrate in Mitochondrial Myopathy	Completed	NCT02398201	Phase 2	Bezafibrate
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 a High-intensity Signal of the Oculomotor Nerve on T2 MRI Sequence in Patients With Ophthalmoplegia	Completed	NCT03135574
28	Prevalence of Contrast Enhancement of the Oculomotor Nerve on 3D PD T1 MRI Sequence in Patients With Ophthalmoplegia	Completed	NCT03269682
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	Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy	Completed	NCT00004770		thioctic acid
33	Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia	Completed	NCT00004353
34	Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics of the Vastus Lateralis After Sub-maximal Exercise in Patients With Mitochondrial Myopathy	Completed	NCT01301235
35	Evaluation of Oxidative Capacity and Exercise Tolerance in Ambulatory Patients With Spinal Muscular Atrophy (SMA)	Completed	NCT02895789
36	Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders	Recruiting	NCT05554835
37	Foundation Fighting Blindness My Retina Tracker Registry	Recruiting	NCT02435940
38	Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial	Recruiting	NCT05012358
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	Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders	Recruiting	NCT05200702
44	Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders	Recruiting	NCT05199246
45	Video Consultation and Mitochondrial Myopathies: Study of Efficacy and Tolerance of a Personalized Training Program at Home	Recruiting	NCT05346627
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

Sources

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

Sources

Anatomical Context for Kearns-Sayre Syndrome

Organs/tissues related to Kearns-Sayre Syndrome:

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

Sources

Publications for Kearns-Sayre Syndrome

Articles related to Kearns-Sayre Syndrome:

(show top 50) (show all 7025)

#	Title	Authors	PMID	Year
1	Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. ⁶² ⁵⁷	Pineda M...Artuch R	16365882	2006
2	Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son. ⁶² ⁵⁷	Puoti G...Zeviani M	14627683	2003
3	CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene. ⁶² ⁵	Raffelsberger T...Bittner RE	11756614	2001
4	Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia. ⁶² ⁵	Sahashi K...Sahashi K	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	Seneca S...Van Coster R	11448301	2001
6	Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. ⁶² ⁵⁷	Barshop BA...Haas RH	10655159	2000
7	A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome. ⁶² ⁵⁷	Lertrit P...Neungton N	10480366	1999
8	Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. ⁶² ⁵⁷	Tanji K...Bonilla E	10072053	1999
9	Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. ⁶² ⁵⁷	Wang J...Larsson NG	9916807	1999
10	Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. ⁶² ⁵⁷	Boles RG...Wong LJ	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	Shoubridge EA...Karpati G	9361028	1997
12	Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. ⁶² ⁵⁷	Anan R...Tanaka H	7850981	1995
13	Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? ⁶² ⁵⁷	Poulton J...Bindoff L	7951243	1994
14	Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder. ⁶² ⁵⁷	Norby S...Warburg M	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	Remes AM...Hassinen IE	7683627	1993
16	Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. ⁶² ⁵⁷	Fischel-Ghodsian N...Edwards MJ	1635816	1992
17	Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child. ⁶² ⁵⁷	Larsson NG...Tulinius MH	1734716	1992
18	Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. ⁶² ⁵⁷	Goto Y...Nonaka I	1965208	1990
19	Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. ⁶² ⁵⁷	Larsson NG...Tulinius M	2395603	1990
20	Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. ⁶² ⁵⁷	Johns DR...Hurko O	2813377	1989
21	Kearns-Sayre syndrome and complex II deficiency. ⁶² ⁵⁷	Rivner MH...Hommes FA	2710360	1989
22	Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. ⁶² ⁵⁷	Moraes CT...Servidei S	2541333	1989
23	Kearns-Sayre syndrome in twins: lethal dominant mutation or acquired disease? ⁶² ⁵⁷	Rowland LP...Johnson WG	3412586	1988
24	Deletions of mitochondrial DNA in Kearns-Sayre syndrome. ⁶² ⁵⁷	Zeviani M...Rowland LP	3412580	1988
25	Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. ⁶² ⁵⁷	Lestienne P...Ponsot G	2895391	1988
26	Cardiomyopathy in the Kearns-Sayre syndrome. ⁶² ⁵⁷	Channer KS...Rees JR	3370184	1988
27	Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome. ⁶² ⁵⁷	Ogasahara S...Tarui S	3974895	1985
28	Discordant HLA haplotype segregation in a family with progressive extrinsic ophthalmoplegia and ragged red fibres. ⁶² ⁵⁷	Scorza Smeraldi R...Scarlato G	6886725	1983
29	Mitochondrial inheritance in a mitochondrially mediated disease. ⁶² ⁵⁷	Egger J...Wilson J	6866014	1983
30	Autosomal dominant Kearns-Sayre syndrome. ⁶² ⁵⁷	Leveille AS...Newell FW	7383548	1980
31	Basal ganglia calcification in Kearns-Sayre syndrome. ⁶² ⁵⁷	Robertson WC...Lloyd RV	508131	1979
32	Familial Kearns-Sayre syndrome. ⁶² ⁵⁷	Schnitzler ER...Robertson WC	572507	1979
33	Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome). ⁶² ⁵⁷	Seigel RS...Allen RJ	758643	1979
34	Ophthalmoplegia-plus, a real nosological entity. ⁶² ⁵⁷	Bastiaensen LA...van Hinsbergh VW	212920	1978
35	A case of progressive external ophthalmoplegia (Kiloh-Nevin type) with abnormal mitochondria. Clinical, histochemical and ultrastructural findings. ⁶² ⁵⁷	Piccolo G...Marchetti C	902667	1977
36	Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? ⁶² ⁵⁷	Berenberg RA...Rowland LP	889288	1977
37	Familial progressive external ophthalmoplegia with abnormal muscle mitochondria. ⁶² ⁵⁷	Jankowicz E...Eljasz L	902666	1977
38	Kearns-Sayre syndrome. A review of a multisystem disorder of children and young adults. ⁶² ⁵⁷	Butler IJ...Gadoth N	791168	1976
39	Familial progressive external ophthalmoplegia and ragged-red fibers. ⁶² ⁵⁷	Iannaccone ST...Joynt RJ	4153849	1974
40	Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family. ⁶² ⁵⁷	Hurwitz LJ...Chopra JS	5364721	1969
41	External ophthalmoplegia and complete heart block. ⁶² ⁵⁷	Ross A...Smith J	5762373	1969
42	Progressive ophthalmoplegia. Report of cases. ⁶² ⁵⁷	Rosenberg RN...Rowland LP	4175668	1968
43	Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. ⁶² ⁵⁷	Drachman DA	5652994	1968
44	Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. ⁵	Yakubovskaya E...Garcia-Diaz M	20550934	2010
45	Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing. ⁵⁷	Lee HC...Wei YH	8155737	1994
46	Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. ⁵⁷	Rotig A...Munnich A	1712754	1991
47	Germ-line deletions of mtDNA in mitochondrial myopathy. ⁵⁷	Poulton J...Gardiner RM	2014792	1991
48	Duplications of mitochondrial DNA in mitochondrial myopathy. ⁵⁷	Poulton J...Gardiner RM	2563411	1989
49	Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. ⁵⁷	Holt IJ...Morgan-Hughes JA	2830540	1988
50	The pituitary gland in the Laurence-Moon syndrome. ⁵⁷	Whitaker MD...Okazaki H	3821182	1987

Sources

Genes for Kearns-Sayre Syndrome

Genes related to Kearns-Sayre Syndrome (4 elite genes):

(show top 50) (show all 73)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MT-TL1	Mitochondrially Encoded TRNA-Leu (UUA/G) 1	RNA Gene	437.99	Pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ ¹⁴	11448301 20550934
2	MT-TY	Mitochondrially Encoded TRNA-Tyr (UAU/C)	RNA Gene	410.23	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴	11594340 11756614
3	RRM2B	Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B	Protein Coding	371.9	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)	21378381
4	MT-ATP8	Mitochondrially Encoded ATP Synthase Membrane Subunit 8	Protein Coding	37.26	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ ¹⁴
5	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	21.86	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
6	MT-ND6	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6	Protein Coding	21.07	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
7	MT-CYB	Mitochondrially Encoded Cytochrome B	Protein Coding	20.95	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
8	ATXN7	Ataxin 7	Protein Coding	20.02	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
9	MT-ND5	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5	Protein Coding	19.96	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
10	COX5A	Cytochrome C Oxidase Subunit 5A	Protein Coding	19.14	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	2175026 16810313
11	MT-CO2	Mitochondrially Encoded Cytochrome C Oxidase II	Protein Coding	18.72	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
12	SDHAF1	Succinate Dehydrogenase Complex Assembly Factor 1	Protein Coding	17.38	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders (show sections)
13	MAG	Myelin Associated Glycoprotein	Protein Coding	17.25	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
14	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	16.73	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders (show sections)
15	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	16.2	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders (show sections)
16	SDHD	Succinate Dehydrogenase Complex Subunit D	Protein Coding	16.05	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders (show sections)
17	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	15.95	DISEASES inferred ¹⁴ ¹⁴
18	TWNK	Twinkle MtDNA Helicase	Protein Coding	14.65	DISEASES inferred ¹⁴ ¹⁴
19	TYMP	Thymidine Phosphorylase	Protein Coding	13.45	DISEASES inferred ¹⁴ ¹⁴
20	POLG2	DNA Polymerase Gamma 2, Accessory Subunit	Protein Coding	13.26	DISEASES inferred ¹⁴ ¹⁴
21	SLC25A4	Solute Carrier Family 25 Member 4	Protein Coding	12.89	DISEASES inferred ¹⁴ ¹⁴
22	DGUOK	Deoxyguanosine Kinase	Protein Coding	12.88	DISEASES inferred ¹⁴ ¹⁴
23	MT-ND4	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4	Protein Coding	12.85	DISEASES inferred ¹⁴ ¹⁴
24	SURF1	SURF1 Cytochrome C Oxidase Assembly Factor	Protein Coding	12.69	DISEASES inferred ¹⁴ ¹⁴
25	MPV17	Mitochondrial Inner Membrane Protein MPV17	Protein Coding	12.4	DISEASES inferred ¹⁴ ¹⁴
26	SPG7	SPG7 Matrix AAA Peptidase Subunit, Paraplegin	Protein Coding	12.36	DISEASES inferred ¹⁴ ¹⁴
27	SLC19A3	Solute Carrier Family 19 Member 3	Protein Coding	12.33	DISEASES inferred ¹⁴ ¹⁴
28	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	12.14	DISEASES inferred ¹⁴ ¹⁴
29	MGME1	Mitochondrial Genome Maintenance Exonuclease 1	Protein Coding	11.92	DISEASES inferred ¹⁴ ¹⁴
30	MRRF	Mitochondrial Ribosome Recycling Factor	Protein Coding	11.81	DISEASES inferred ¹⁴ ¹⁴
31	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	11.78	DISEASES inferred ¹⁴ ¹⁴
32	KIF21A	Kinesin Family Member 21A	Protein Coding	11.76	DISEASES inferred ¹⁴ ¹⁴
33	MT-ND3	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 3	Protein Coding	11.75	DISEASES inferred ¹⁴ ¹⁴
34	MT-CO3	Mitochondrially Encoded Cytochrome C Oxidase III	Protein Coding	11.57	DISEASES inferred ¹⁴ ¹⁴
35	COQ8A	Coenzyme Q8A	Protein Coding	11.48	DISEASES inferred ¹⁴ ¹⁴
36	FXN	Frataxin	Protein Coding	11.42	DISEASES inferred ¹⁴ ¹⁴
37	SUCLA2	Succinate-CoA Ligase ADP-Forming Subunit Beta	Protein Coding	11.42	DISEASES inferred ¹⁴ ¹⁴
38	SSBP1	Single Stranded DNA Binding Protein 1	Protein Coding	11.29	DISEASES inferred ¹⁴ ¹⁴
39	MT-TL2	Mitochondrially Encoded TRNA-Leu (CUN) 2	RNA Gene	11.26	DISEASES inferred ¹⁴ ¹⁴
40	MT-ND4L	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4L	Protein Coding	11.26	DISEASES inferred ¹⁴ ¹⁴
41	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	11.14	DISEASES inferred ¹⁴ ¹⁴
42	MT-ND2	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2	Protein Coding	11.12	DISEASES inferred ¹⁴ ¹⁴
43	TFAM	Transcription Factor A, Mitochondrial	Protein Coding	11.1	DISEASES inferred ¹⁴ ¹⁴
44	ACAD9	Acyl-CoA Dehydrogenase Family Member 9	Protein Coding	11.05	DISEASES inferred ¹⁴ ¹⁴
45	SUCLG1	Succinate-CoA Ligase GDP/ADP-Forming Subunit Alpha	Protein Coding	10.99	DISEASES inferred ¹⁴ ¹⁴
46	APTX	Aprataxin	Protein Coding	10.98	DISEASES inferred ¹⁴ ¹⁴
47	PHOX2A	Paired Like Homeobox 2A	Protein Coding	10.97	DISEASES inferred ¹⁴ ¹⁴
48	MFN2	Mitofusin 2	Protein Coding	10.96	DISEASES inferred ¹⁴ ¹⁴
49	RYR1	Ryanodine Receptor 1	Protein Coding	10.95	DISEASES inferred ¹⁴ ¹⁴
50	DARS2	Aspartyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	10.91	DISEASES inferred ¹⁴ ¹⁴

Sources

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	MT-TK	NC_012920.1(MT-CYB):m.8319A>G	SNV	Uncertain Significance	690070	rs1603221401	GRCh37: MT:8319-8319 GRCh38: MT:8319-8319
7	overlap with 12 genes	NC_012920.1:m.8483_13459del4977	DEL	Not Provided	430680		GRCh37: MT:8470-13446 GRCh38: MT:8470-13446

Sources

Expression for Kearns-Sayre Syndrome

Search GEO for disease gene expression data for Kearns-Sayre Syndrome.

Sources

Pathways for Kearns-Sayre Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.39	COX5A MT-ATP6 MT-ATP8 MT-CO2 MT-CYB MT-ND5
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁶ Show member pathways Electron transport chain: OXPHOS system in mitochondria ⁷⁴ Mitochondrial Uncoupling ⁶⁶ Oleoyl-phe metabolism ⁶⁶ Oxidative phosphorylation ⁷⁴ Respiratory electron transport ⁶⁶ The citric acid (TCA) cycle and respiratory electron transport ⁶⁶	12.08	SDHD SDHB SDHA MT-ND6 MT-ND5 MT-CYB
3	Transcriptional activation of mitochondrial biogenesis ⁶⁶ Show member pathways Activation of PPARGC1A (PGC-1alpha) by phosphorylation ⁶⁶ Cristae formation ⁶⁶ Formation of ATP by chemiosmotic coupling ⁶⁶ Mitochondrial biogenesis ⁶⁶ Mitochondrial transcription initiation ⁶⁶ Mitochondrial transcription termination ⁶⁶ Transcription from mitochondrial promoters ⁶⁶	11.9	TWNK POLG2 MT-ATP8 MT-ATP6
4	Pyruvate metabolism ⁶⁶ Show member pathways Interconversion of 2-oxoglutarate and 2-hydroxyglutarate ⁶⁶ pyruvate decarboxylation to acetyl CoA ⁶¹ Pyruvate metabolism and Citric Acid (TCA) cycle ⁶⁶ Regulation of pyruvate dehydrogenase (PDH) complex ⁶⁶	11.62	SDHD SDHB SDHA
5	TCA cycle III (animals) ⁶¹ Show member pathways Citric acid cycle (TCA cycle) ⁶⁶ TCA cycle ⁶¹ TCA cycle (aka Krebs or citric acid cycle) ⁷⁴ TCA cycle and deficiency of pyruvate dehydrogenase complex (PDHc) ⁷⁴	11.49	SDHD SDHB SDHA
6	TP53 Regulates Metabolic Genes ⁶⁶	11.44	RRM2B MT-CO2 COX5A
7	Nucleotide metabolism ⁷⁴	10.71	RRM2B POLG
8	Mitochondrial complex II assembly ⁷⁴ Show member pathways aerobic respiration I (cytochrome c) ⁶¹	10.34	SDHD SDHB SDHAF1 SDHA

Sources

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

Sources for Kearns-Sayre Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Kearns-Sayre Syndrome (KSS)

Aliases & Classifications for Kearns-Sayre Syndrome

MalaCards integrated aliases for Kearns-Sayre Syndrome:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Kearns-Sayre Syndrome

Related Diseases for Kearns-Sayre Syndrome

Diseases related to Kearns-Sayre Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Kearns-Sayre Syndrome

Human phenotypes related to Kearns-Sayre Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Kearns-Sayre Syndrome:

Drugs & Therapeutics for Kearns-Sayre Syndrome

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

Interventional clinical trials:

Cochrane evidence based reviews: kearns-sayre syndrome

Genetic Tests for Kearns-Sayre Syndrome

Genetic tests related to Kearns-Sayre Syndrome:

Anatomical Context for Kearns-Sayre Syndrome

Organs/tissues related to Kearns-Sayre Syndrome:

Publications for Kearns-Sayre Syndrome

Articles related to Kearns-Sayre Syndrome:

Genes for Kearns-Sayre Syndrome

Genes related to Kearns-Sayre Syndrome (4 elite genes):

Variations for Kearns-Sayre Syndrome

ClinVar genetic disease variations for Kearns-Sayre Syndrome:

Expression for Kearns-Sayre Syndrome

Pathways for Kearns-Sayre Syndrome

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

GO Terms for Kearns-Sayre Syndrome

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

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

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

Sources for Kearns-Sayre Syndrome