MCID: KRN002
MIFTS: 60

Kearns-Sayre Syndrome malady

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

Aliases & Classifications for Kearns-Sayre Syndrome

About this section
Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 30ICD9CM, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Kearns-Sayre Syndrome:

Name: Kearns-Sayre Syndrome 50 11 46 23 24 47 13 52 25 48 37 66
Ophthalmoplegia 11 13 37
Kss 46 23 24
Ophthalmoplegia Plus Syndrome 46 25
Mitochondrial Cytopathy 46 66
Total Ophthalmoplegia 11 66
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 46
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 46
 
Chronic Progressive External Ophthalmoplegia with Myopathy 46
Kearns-Sayre Mitochondrial Cytopathy 24
Cpeo with Ragged Red Fibers 46
Oculocraniosomatic Syndrome 46
Mitochondrial Myopathies 66
Oculomotor Paralysis 11
Cpeo with Myopathy 46

Characteristics:

Orphanet epidemiological data:

52
kearns-sayre syndrome:
Inheritance: Autosomal recessive,Mitochondrial inheritance,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood; Age of death: adolescent,adult,elderly,late childhood,normal life expectancy,young Adult

HPO:

62
kearns-sayre syndrome:
Inheritance: mitochondrial inheritance


Classifications:



External Ids:

OMIM50 530000
Disease Ontology11 DOID:12934, DOID:539
ICD1028 H49.81, H49.3
ICD9CM30 378.56
Orphanet52 ORPHA480
ICD10 via Orphanet29 H49.8
MESH via Orphanet38 D007625
UMLS via Orphanet67 C0022541

Summaries for Kearns-Sayre Syndrome

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Genetics Home Reference:24 Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis). Affected individuals also have an eye condition called pigmentary retinopathy, which results from breakdown (degeneration) of the light-sensing tissue at the back of the eye (the retina) that gives it a speckled and streaked appearance. The retinopathy may cause loss of vision. In addition, people with Kearns-Sayre syndrome have at least one of the following signs or symptoms: abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects), problems with coordination and balance that cause unsteadiness while walking (ataxia), or abnormally high levels of protein in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF).

MalaCards based summary: Kearns-Sayre Syndrome, also known as ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and myopathy, and has symptoms including ophthalmoparesis, abnormality of retinal pigmentation and arrhythmia. An important gene associated with Kearns-Sayre Syndrome is MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)), and among its related pathways are Nucleotide Metabolism and purine nucleotides de novo biosynthesis. Affiliated tissues include retina, eye and heart.

NIH Rare Diseases:46 Kearns-sayre syndrome (kss) is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy (a "salt-and-pepper" pigmentation in the retina that can affect vision, but often leaves it intact), and progressive external ophthalmoplegia (peo). in addition, affected individuals have at least one of the following: cardiac conduction block, cerebrospinal fluid protein concentration greater than 100 mg/dl, or cerebellar ataxia. kearns-sayre syndrome is a mitochondrial dna (mtdna) deletion syndrome. it results from abnormalities in the dna of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. this and other mitochondrial diseases correlate with specific dna mutations that cause problems with many of the organs and tissues in the body, resulting in multisystem effects. treatment for this slowly progressive disorder is generally symptomatic and supportive. last updated: 12/17/2014

NINDS:47 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.

Description from OMIM:50 530000

Related Diseases for Kearns-Sayre Syndrome

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

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1chronic progressive external ophthalmoplegia11.1
2myopathy11.0
3prp systemic amyloidosis10.8MT-ATP6, MT-ATP8
4parkinson disease 6, early onset10.8MT-ND5, MT-ND6
5mental retardation, obesity, mandibular prognathism, and eye and skin anomalies10.7MT-TK, MT-TL1
6mesp2-related spondylocostal dysostosis, autosomal recessive10.7MT-TK, MT-TL1
7congenital fiber-type disproportion10.7MT-ATP6, MT-TK
8leukoencephalopathy, progressive, with ovarian failure10.7MT-TL2, MT-TW
9lethal restrictive dermopathy, lmna-related10.7MT-ATP6, MT-ATP8
10multiple epiphyseal dysplasia, autosomal dominant10.7POLG, TYMP
11enchondroma10.7MT-ND5, MT-ND6, TYMP
12sparganosis10.7MT-ATP8, MT-ND5, MT-TL1
13le marec bracq picaud syndrome10.7MT-ATP6, MT-ATP8
14paroxysomal nonkinesigenic dyskinesia10.6MT-ND4, MT-ND6
15prop1-related combined pituitary hormone deficiency10.6C10orf2, POLG
16intestinal volvulus10.6MT-TK, TYMP
17deafness, autosomal dominant 3010.6C10orf2, POLG
18childhood cerebral astrocytoma10.6MT-ATP6, MT-ND5, MT-ND6, MT-TK
19charcot-marie-tooth disease type 2t10.6POLG, RRM2B, TYMP
20hypoparathyroidism10.6
21cardiomyopathy10.5
22megalencephalic leukoencephalopathy with subcortical cysts10.5MT-TK, POLG, TYMP
23restless legs syndrome10.5MT-CYB, MT-ND4
24perrault syndrome 510.5C10orf2, SLC25A4
25endometriosis of rectovaginal septum and vagina10.5KIF21A, PHOX2A
26abducens nerve disease10.4KIF21A, PHOX2A
27african histoplasmosis10.4MT-ATP8, MT-ND4, MT-TW
28wheat allergy10.4MT-ATP6, MT-ND4, MT-ND5, MT-ND6
29pearson syndrome10.4
30atrioventricular block10.4
31cerebritis10.4
32mitochondrial encephalomyopathy10.4
33encephalomyopathy10.4
34mitochondrial recessive ataxia syndrome10.4C10orf2, POLG, TYMP
35clubfoot10.4MT-ND4, MT-ND5, MT-ND6, POLG
36noninfectious dermatoses of eyelid10.4MT-ND4, MT-ND5, MT-ND6, MT-TK
37monofixation syndrome10.4KIF21A, PHOX2A
38ptosis10.4
39childhood electroclinical syndrome10.3MT-ND4, MT-TK
40cranial pseudosarcomatous fasciitis10.3C10orf2, POLG, SLC25A4
41esophageal basaloid squamous cell carcinoma10.3MT-ATP6, MT-CYB, MT-ND4, MT-ND5, MT-ND6
42dilated cardiomyopathy10.3
43fanconi syndrome10.3
44choroiditis10.3
45neuropathy10.3
46mitochondrial cardiomyopathy10.3
47colorectal adenocarcinoma10.3C10orf2, MT-ND4, POLG
48hallucinogen abuse10.3C10orf2, POLG
49mitochondrial complex ii deficiency10.3
50mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes10.3

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



Diseases related to kearns-sayre syndrome

Symptoms for Kearns-Sayre Syndrome

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Symptoms by clinical synopsis from OMIM:

530000

Clinical features from OMIM:

530000

Symptoms:

 52 (show all 14)
  • hearing impairment
  • progressive external ophthalmoplegia
  • anterior hypopituitarism
  • ataxia
  • muscular hypotonia
  • reduced tendon reflexes
  • third degree atrioventricular block
  • delayed skeletal maturation
  • ragged-red muscle fibers
  • skeletal muscle atrophy
  • emg abnormality
  • hemiplegia/hemiparesis
  • progressive intervertebral space narrowing
  • abnormal retinal pigmentation

HPO human phenotypes related to Kearns-Sayre Syndrome:

(show all 36)
id Description Frequency HPO Source Accession
1 ophthalmoparesis hallmark (90%) HP:0000597
2 abnormality of retinal pigmentation hallmark (90%) HP:0007703
3 arrhythmia hallmark (90%) HP:0011675
4 hearing impairment typical (50%) HP:0000365
5 anterior hypopituitarism typical (50%) HP:0000830
6 muscular hypotonia typical (50%) HP:0001252
7 reduced tendon reflexes typical (50%) HP:0001315
8 incoordination typical (50%) HP:0002311
9 skeletal muscle atrophy typical (50%) HP:0003202
10 emg abnormality typical (50%) HP:0003457
11 short stature typical (50%) HP:0004322
12 delayed skeletal maturation occasional (7.5%) HP:0002750
13 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
14 microcephaly HP:0000252
15 sensorineural hearing impairment HP:0000407
16 ptosis HP:0000508
17 pigmentary retinopathy HP:0000580
18 progressive external ophthalmoplegia HP:0000590
19 dementia HP:0000726
20 sensory neuropathy HP:0000763
21 diabetes mellitus HP:0000819
22 hypoparathyroidism HP:0000829
23 seizures HP:0001250
24 ataxia HP:0001251
25 muscle weakness HP:0001324
26 cardiomyopathy HP:0001638
27 third degree atrioventricular block HP:0001709
28 sideroblastic anemia HP:0001924
29 renal tubular acidosis HP:0001947
30 renal fanconi syndrome HP:0001994
31 basal ganglia calcification HP:0002135
32 increased csf protein HP:0002922
33 lactic acidosis HP:0003128
34 ragged-red muscle fibers HP:0003200
35 short stature HP:0004322
36 primary adrenal insufficiency HP:0008207

UMLS symptoms related to Kearns-Sayre Syndrome:


cerebellar ataxia, ophthalmoplegia, seizures, photopsia, muscle weakness, sudden visual loss, metamorphopsia, blurred vision, congenital visual acuity reduced, muscle cramp, muscle rigidity, muscle spasticity, myalgia

Drugs & Therapeutics for Kearns-Sayre Syndrome

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

(show all 30)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SiliconPhase 4887440-21-34082203
Synonyms:
Si
 
Silica
Silicate
Silicic acid
2UbiquinonePhase 2, Phase 3132
3
RivastigminePhase 3, Phase 282123441-03-277991
Synonyms:
(S)-3-(1-(Dimethylamino)ethyl)phenyl ethylmethylcarbamate
123441-03-2
3-((1S)-1-(Dimethylamino)ethyl)phenyl N-ethyl-N-methylcarbamate
3-((1S)-1-(Dimethylamino)ethyl)phenyl ethylmethylcarbamate
3-[(1S)-1-(dimethylamino)ethyl]phenyl ethyl(methyl)carbamate
AB1004572
AC1L2U92
BIDD:GT0316
C11766
CHEMBL636
CID77991
Carbamic acid, N-ethyl-N-methyl-, 3-[(1S)-1-(dimethylamino)ethyl]phenyl ester
Carbamic acid, ethylmethyl-, 3-((1S)-1-(dimethylamino)ethyl)phenyl ester
D03822
DB00989
ENA 713 free base
 
Ena 713 Free Base
Ethylmethylcarbamic acid 3-((1S)-1-(dimethylamino)ethyl)phenyl ester
Exelon
Exelon Patch
HMS2089H18
I06-2037
LS-172571
MolPort-003-666-662
NCGC00167531-01
Rivastigmine (JAN/USAN/INN)
Rivastigmine Hydrogen Tartrate
Rivastigmine [USAN:INN]
Rivastigmine hydrogen tartrate
SDZ 212-713
UNII-PKI06M3IW0
[3-[(1S)-1-(dimethylamino)ethyl]phenyl] N-ethyl-N-methylcarbamate
m-((S)-1-(Dimethylamino)ethyl)phenyl ethylmethylcarbamate
rivastigmine
4
CysteaminePhase 2, Phase 32660-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
Decarboxycysteine
DivK1c_006750
 
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
5
RiluzolePhase 3611744-22-55070
Synonyms:
1744-22-5
2-Amino-6-(trifluoromethoxy)-benzothiazole
2-Amino-6-(trifluoromethoxy)benzothiazole
2-Amino-6-trifluoro- methoxybenzothiazole
2-amino-6-(trifluoromethoxy)-1,3-benzothiazole
2-amino-6-(trifluoromethoxy)benzo[d]thiazole
2-amino-6-(trifluoromethoxyl)benzothiazole
2-amino-6-trifluoromethoxybenzothiazole
6-(trifluoromethoxy)-1,3-benzothiazol-2-amine
6-(trifluoromethoxy)benzo[d]thiazol-2-amine
6-Trifluoromethoxy-benzothiazol-2-ylamine
6-trifluoromethoxybenzothiazole-2-yl-amine
AC-730
AC1L1JJL
AC1Q530H
AKOS000265071
ALBB-006046
Amino-2 trifluoromethoxy-6 benzothiazole
Amino-2 trifluoromethoxy-6 benzothiazole [French]
BB_SC-4839
BF-37
BIDD:GT0055
BPBio1_000037
BPBio1_000837
BRD-K21283037-001-02-5
BRD-K21283037-003-03-9
BSPBio_000033
Bio1_000416
Bio1_000905
Bio1_001394
Biomol-NT_000245
C07937
C8H5F3N2OS
CHEMBL744
CID5070
D00775
DB00740
EU-0101064
FT-0082997
HMS1773G08
HMS2089O19
HMS2094G07
I01-2084
LS-40688
 
Lopac-R-116
Lopac0_001064
MLS000069369
MolPort-000-151-262
NCGC00015882-01
NCGC00015882-02
NCGC00015882-03
NCGC00015882-07
NCGC00015882-11
NCGC00023141-02
NCGC00023141-04
NCGC00023141-05
NCGC00023141-06
PK-26124
PK-26124, RP-54274, Rilutek, Riluzole
Prestwick-03A08
Prestwick0_000167
Prestwick1_000167
Prestwick2_000167
Prestwick3_000167
R-116
R116_SIGMA
RP 54274
RP-54274
Rilutek
Rilutek (TN)
Riluzol
Riluzol [INN-Spanish]
Riluzole
Riluzole (JAN/USAN/INN)
Riluzole HCl
Riluzole [USAN:INN]
Riluzolum
Riluzolum [INN-Latin]
S1614_Selleck
SMR000058231
SPBio_000599
SPBio_001954
STK503686
Spectrum2_000550
Tocris-0768
UNII-7LJ087RS6F
ZERO/001785
ZINC00006481
riluzole
6
RasagilinePhase 354136236-51-63052776
Synonyms:
(1R)-N-(prop-2-yn-1-yl)-2,3-dihydro-1H-inden-1-amine
(1R)-N-Propargylindan-1-amine
(1R)-N-prop-2-ynyl-2,3-dihydro-1H-inden-1-amine
(R)-Indan-1-yl-prop-2-ynyl-amine
(R)-N-2-Propynyl-1-indanamine
136236-51-6
1H-Inden-1-amine, 2,3-dihydro-N-2-propynyl-, (1R)
AC-723
AC1MHJZT
Azilect
Azilect (TN)
CHEBI:45357
 
CHEMBL887
CID3052776
D08469
DB01367
LS-186771
LS-187776
MolPort-003-850-132
NCGC00168774-01
RAS
Rasagiline (INN)
Rasagiline [INN]
UNII-003N66TS6T
ZINC19875504
rasagiline
7
Coenzyme Q10NutraceuticalPhase 2, Phase 3108303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q-10
Coenzyme Q10
Ensorb
Kaneka Q10
 
Kudesan
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10
8Lithium carbonatePhase 1, Phase 2222554-13-2
9
Valproic AcidPhase 231899-66-13121
Synonyms:
(N-C3H7)2CHCOOH
(S)-2-propyl-4-pentanoate
(S)-2-propyl-4-pentanoic acid
2 PP (base)
2-N-Propyl-N-valeric acid
2-Propyl-Pentanoate
2-Propyl-Pentanoic acid
2-Propylpentanoate
2-Propylpentanoic Acid
2-Propylpentanoic acid
2-Propylvaleric Acid
2-Propylvaleric acid
2-n-Propyl-n-valeric acid
2-n-propyl-n-valeric acid
2-propyl-pentanoic acid
2-propylvaleric acid
4-Heptanecarboxylic acid
4-heptanecarboxylic acid
76584-70-8 (hydrochloride salt (2:1))
99-66-1
AC1L1F7T
AC1Q2ULA
AI3-10500
APO-divalproex
Abbott 44090
Acide valproique
Acide valproique [INN-French]
Acide valproique [inn-french]
Acido valproico
Acido valproico [INN-Spanish]
Acido valproico [inn-spanish]
Acidum valproicum
Acidum valproicum [INN-Latin]
Acidum valproicum [inn-latin]
Alti-Valproic
Alti-valproic
Apo-valproic
Apo-valproic syrup
Avugane
BIDD:GT0858
BRN 1750447
Baceca
C07185
CHEBI:39867
CHEMBL109
CID3121
CPD000499581
Convulex
Convulsofin
D00399
DB00313
DOM-divalproex
DOM-valproic
DOM-valproic acid E.C.
DPA
Delepsine
Depacon
Depakene
Depakene (TN)
Depakin
Depakin chrono
Depakine
Depakine chrono
Depakote
Depakote (TM)
Deproic
Di-N-propylacetic acid
Di-N-propylessigsaure
Di-N-propylessigsaure [german]
Di-n-propylacetic acid
Di-n-propylessigsaeure
Di-n-propylessigsaure
Di-n-propylessigsaure [German]
Di-n-propylessigsäure
Dipropyl Acetate
Dipropylacetate
Dipropylacetic acid
DivK1c_000273
Divalproex
Dom-Valproic
Dom-valproate
Dom-valproic acid
Dom-valproic acid syrup
EINECS 202-777-3
Epiject I.V.
Epilex
Epilim
Epival
Epival er
Ergenyl
G2M-777
Gen-divalproex
HMS2089J06
HSDB 3582
I04-0211
InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)
KBio1_000273
KBio2_001001
KBio2_002277
KBio2_003569
KBio2_004845
 
KBio2_006137
KBio2_007413
KBio3_002626
KBio3_002757
KBioGR_000871
KBioGR_002277
KBioSS_001001
KBioSS_002278
Kyselina 2-propylvalerova
Kyselina 2-propylvalerova [Czech]
LS-161170
LS-2068
MLS001076682
MLS001335927
MLS001335928
MLS002415770
Med Valproic
Med valproic
MolPort-001-791-895
Mylproin
Myproate
Myproic Acid
Myproic acid
N-DPA
N-Dipropylacetic acid
NCGC00091149-01
NCGC00091149-02
NCGC00091149-03
NCGC00091149-04
NINDS_000273
NSC 93819
NSC93819
Novo-Valproic
Novo-Valproic - ECC
Novo-divalproex
Novo-valproic
Novo-valproic soft gel cap
Nu-Valproic
Nu-valproic
P0823
P6273_SIGMA
PEAC
PHL-valproate
PHL-valproic acid
PHL-valproic acid E.C.
PMS-Divalproex
PMS-Valproic Acid
PMS-valproate
PMS-valproic acid
PMS-valproic acid E.C.
Penta-Valproic
Penta-valproic
Propylvaleric acid
Ratio-Valproic - ECC
S(-)-4-En-valproate
S(-)-4-En-valproic acid
S-2-N-Propyl-4-pentenoate
S-2-N-Propyl-4-pentenoic acid
SAM002564230
SBB065764
SMR000499581
SPBio_000912
Sandoz valproic
Savicol
Semisodium Valproate
Sodium hydrogen divalproate
Spectrum2_000946
Spectrum3_001733
Spectrum4_000376
Spectrum_000521
Sprinkle
Stavzor
UNII-614OI1Z5WI
VALPROIC ACID
VPA
Valcote
Valparin
Valproate
Valproate semisodique [French]
Valproate semisodium
Valproato semisodico [Spanish]
Valproatum seminatricum [Latin]
Valproic Acid, Sodium Salt (2:1)
Valproic acid
Valproic acid (USP)
Valproic acid USP
Valproic acid USP24
Valproic acid [USAN:INN:BAN]
Valproic acid [usan:ban:inn]
Valproinsaeure
Valproinsäure
Vupral
WLN: QVY3 & 3
acide valproïque
acidum valproicum
di-n-propylacetic acid
n-DPA
n-Dipropylacetic acid
nchembio.79-comp4
nchembio815-comp21
valproate
valproic acid
ácido valproico
10
DonepezilPhase 2275120014-06-43152
Synonyms:
( inverted exclamation markA)-E 2020
1-Benzyl-4-[(5,6-dimethoxy-1-oxoindan-2-yl)methyl]piperidine
120014-06-4
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxy-2,3-dihydroinden-1-one
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxyindan-1-one
AB1004836
AC-6969
AC1L1FAE
AKOS000277311
Aricept
Aricept ODT
C24H29NO3
CHEBI:53289
CHEMBL502
CID3152
D07869
DB00843
Domepezil
Donaz
Donaz (TN)
 
Donepezil
Donepezil (INN)
Donepezil [INN:BAN]
Donepezil hydrochloride
Donepezilo
Donepezilum
Eranz
I06-0343
KBio2_002144
KBio2_004712
KBio2_007280
KBioSS_002144
LS-81819
MolPort-000-881-588
MolPort-003-847-014
NCGC00167537-01
Oprea1_188452
Spectrum5_001662
Spectrum_001664
TL8000531
UNII-8SSC91326P
11
4-AminopyridinePhase 267504-24-51727
Synonyms:
.gamma.-Aminopyridine
275875_ALDRICH
36687_FLUKA
36687_RIEDEL
4 AP
4 Aminopyridine
4 Aminopyridine Sustained Release
4-AP
4-Aminopyridine
4-Aminopyridine 10
4-Aminopyridine Sustained Release
4-Pyridinamine
4-Pyridylamine
4-aminopyridine
5-22-09-00106 (Beilstein Handbook Reference)
504-24-5
A 0152
A0414
A78403_ALDRICH
AB1004971
AC-907/25014071
AC1L1C3R
AC1Q52BM
AI3-52547
AKOS000119896
Amaya
Amino-4 pyridine
Amino-4-Pyridine
Ampydin
Ampyra
Avitrol
Avitrol 200
BB_SC-6974
BRN 0105782
BSPBio_001562
Bio1_000353
Bio1_000842
Bio1_001331
Bio2_000282
Bio2_000762
C13728
C5H6N2
CHEBI:34385
CHEMBL284348
CID1727
Caswell No. 038
Compound 1861
D015761
D04127
Dalfampridine
DivK1c_000572
EINECS 207-987-9
EL-970
EPA Pesticide Chemical Code 069201
EU-0100032
FT-0083754
Fampridina
Fampridine
Fampridine (USAN/INN)
Fampridine SR
Fampridine [USAN:INN]
Fampridine-PR
Fampridine-SR
Fampridinum
HC150041
HMS1361O04
HMS1791O04
HMS1921H15
HMS1989O04
HMS2092F05
HMS501M14
HSDB 6037
IDI1_000572
IDI1_034032
InChI=1/C5H6N2/c6-5-1-3-7-4-2-5/h1-4H,(H2,6,7
KBio1_000572
 
KBio2_000282
KBio2_000635
KBio2_002850
KBio2_003203
KBio2_005418
KBio2_005771
KBio3_000563
KBio3_000564
KBio3_001888
KBioGR_000282
KBioGR_001505
KBioSS_000282
KBioSS_000635
LS-130202
Lopac-A-0152
Lopac0_000032
MLS000069400
Mi-W-3
MolPort-000-146-022
N07XX07
NCGC00015009-01
NCGC00015009-03
NCGC00015009-12
NCGC00024890-01
NCGC00024890-02
NCGC00024890-03
NCGC00024890-04
NCGC00024890-05
NCGC00024890-06
NCGC00024890-07
NCGC00024890-08
NCGC00024890-09
NCGC00024890-10
NINDS_000572
NSC 15041
NSC15041
Neurelan
Neurelan (TN)
P-Aminopyridine
PYRIDINE,4-AMINO
Philips 1861
Phillips 1861
Pimadin (free base)
Prc 1237
Pymadin
Pymadine
RCRA waste no. P008
SDCCGMLS-0066228.P001
SMR000058211
SPBio_001486
SPECTRUM1501130
STK298717
Spectrum2_001413
Spectrum3_000914
Spectrum4_001013
Spectrum5_001501
Spectrum_000155
Sustained Release, 4-Aminopyridine
TL8003344
Tocris-0940
UNII-BH3B64OKL9
UPCMLD-DP125
UPCMLD-DP125:001
VMI 10-3
VMI 103
VMI-10-3
VMI-103
VMI103
WLN: T6NJ DZ
[J.Pharmacol.Exp.Ther. 275:864 (1995)]
gamma-Aminopyridine
nchem.892-comp4
p-Aminopyridine
p-Aminopyridine [UN2671] [Poison]
p-Aminopyridine [UN2671] [Poison]
pyridin-4-amine
pyridin-4-ylamine
12
DopaminePhase 1367851-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
13Sodium salicylatePhase 12754-21-7
14
benzoic acidPhase 1765-85-0243
Synonyms:
Benzenecarboxylate
Benzenecarboxylic acid
Benzeneformate
Benzeneformic acid
Benzenemethanoate
Benzenemethanoic acid
Benzenemethonic acid
Benzoate
Benzoic acid
Benzoic acid sodium salt
 
Carboxybenzene
Diacylate
Diacylic acid
Dracylate
Dracylic acid
Oracylic acid
Phenylcarboxylate
Phenylcarboxylic acid
Phenylformate
Phenylformic acid
Sodium benzoate
Sodium benzoic acid
15taxanePhase 1335
16
Salicylic acidPhase 116569-72-7338
Synonyms:
105910_ALDRICH
105910_SIAL
2 Hydroxybenzoic Acid
2-Carboxyphenol
2-Hydroxybenzenecarboxylate
2-Hydroxybenzenecarboxylic acid
2-Hydroxybenzoate
2-Hydroxybenzoic acid
2-hydroxy(1-14c)benzoic acid
247588_SIAL
27301_SIAL
69-72-7
7681-06-3
8052-31-1
84210_FLUKA
84210_SIAL
AB1002436
AC1L190M
AC1Q1HCK
AC1Q72IF
AI3-02407
AKOS000118979
ALPHA/BETA HYDROXY ACIDS (SALICYLIC ACID) (SEE ALPHA/BETA HYDROXY ACIDS)
AR-1E2203
ATA fraction 10, ammonium salt
Acid, 2-Hydroxybenzoic
Acid, Salicylic
Acid, o-Hydroxybenzoic
Acid, ortho-Hydroxybenzoic
Acido o-idrossibenzoico
Acido o-idrossibenzoico [Italian]
Acido salicilico
Acido salicilico [Italian]
Acidum salicylicum
Advanced Pain Relief Callus Removers
Advanced Pain Relief Corn Removers
Advanced pain relief callus removers
Advanced pain relief corn removers
Akurza Cream
Akurza Lotion
Alpha/Beta Hydroxy Acids (Glycolic Acid, Salicylic Acid)
BENZOIC ACID,2-HYDROXY SALICYLIC ACID
BIDD:ER0602
BRN 0774890
Benzoic acid, 2-hydroxy- (9CI)
C00805
CCRIS 6714
CHEBI:16914
CHEMBL424
CID338
CMC_13852
Caswell No. 731
Clear away Wart Remover
Clear away wart remover
Compound W
Compound w
D00097
D020156
DB00936
DHS Sal Shampoo
DivK1c_000301
Domerine
Dr. Scholl'S Callus Removers
Dr. Scholl'S Corn Removers
Dr. Scholl'S Wart Remover Kit
Dr. Scholl's callus removers
Dr. Scholl's corn removers
Dr. Scholl's wart remover kit
DuoPlant Gel
Duofil Wart Remover
Duofil wart remover
Duofilm
Duoplant
E9A559BE-383B-4F83-BC02-3031D03D558A
EINECS 200-712-3
EPA Pesticide Chemical Code 076602
Freezone
H0206
HSDB 672
Hydrisalic Gel
I04-0192
IDI1_000301
InChI=1/C7H6O3/c8-6-4-2-1-3-5(6)7(9)10/h1-4,8H,(H,9,10
Ionil
Ionil Plus
Ionil plus
Ionil-Plus
 
K 537
K 557
KBio1_000301
KBio2_001428
KBio2_003996
KBio2_006564
KBioSS_001428
Keralyt
Kyselina 2-hydroxybenzoova
Kyselina 2-hydroxybenzoova [Czech]
Kyselina salicylova
Kyselina salicylova [Czech]
LS-2169
MLS000069653
Mediplast pads
MolPort-001-769-476
NCGC00159447-02
NCGC00159447-04
NINDS_000301
NSC 180
NSC180
NSC629474
O-Carboxyphenol
O-Hydroxybenzoate
O-Hydroxybenzoic acid
O-carboxyphenol
O-hydroxybenzoic acid
Occlusal
Oprea1_040343
Orthohydroxybenzoic acid
P&S Shampoo
Phenol-2-carboxylate
Phenol-2-carboxylic acid
Propa pH Peel-Off Acne Mask
Psoriacid-S-Stift
Psoriacid-S-stift
Retarder SAX
Retarder W
Rutranex
S5922_SIGMA
S7401_SIGMA
S8519_SIGMA
SALICYLIC ACID (SEE ALSO ALPHA HYDROXY ACIDS)
SALICYLIC ACID, ACS
SAX
SBB052826
SGCUT00012
SMP2_000145
SMR000059163
STK258681
Salex Cream
Salex Lotion
Salicyclic acid
Salicylate
Salicylic acid
Salicylic acid & Sulfur Soap
Salicylic acid (6CI,8CI)
Salicylic acid (JP15/USP)
Salicylic acid (TN)
Salicylic acid Soap
Salicylic acid [USAN:JAN]
Salicylic acid collodion
Salicylic acid soap
Salicylic acid, tech
Salicylic acid, tech.
Salicylic acid-ring-UL-14C
Saligel
Salonil
Sebucare
Sebulex
Spectrum_000948
Stri-Dex
Trans-Ver-Sal
UNII-O414PZ4LPZ
UPCMLD-DP126
UPCMLD-DP126:001
Verrugon
W398500_ALDRICH
WLN: QVR BQ
bmse000252
o Hydroxybenzoic Acid
o-Carboxyphenol
o-hydroxybenzoic acid
ortho Hydroxybenzoic Acid
ortho-Hydroxybenzoic Acid
phenol derivative, 7
salicylate
salicylic acid
to_000004
17
AcetylcarnitinePhase 1413040-38-81
Synonyms:
(+-)-Acetylcarnitine
(-)-Acetylcarnitine
(R)-Acetylcarnitine
ALCAR
Acetyl-L-(-)-carnitine
Acetyl-L-carnitine
Acetyl-carnitine
Acetylcarnitine
 
L-Acetylcarnitine
L-Carnitine acetyl ester
L-O-Acetylcarnitine
Levocarnitine acetyl
Nicetile
O-Acetyl-L-carnitine
O-Acetylcarnitine
O-acetyl-L-carnitine
acetyl-L-carnitine
18
NiacinNutraceuticalPhase 186259-67-6938
Synonyms:
3-Carboxylpyridine
3-Carboxypyridine
3-Pyridinecarboxylate
3-Pyridinecarboxylic acid
3-Pyridylcarboxylate
3-Pyridylcarboxylic acid
3-carboxypyridine
Acide Nicotinique
Acido nicotinico
Acidum Nicotinicum
Akotin
Anti-pellagra vitamin
Apelagrin
Daskil
Efacin
Enduracin
Linic
M-Pyridinecarboxylic Acid
Niac
Niacin
Niacine
Niacor
Nicacid
Nicamin
Nicangin
 
Nico-Span
Nicobid
Nicocap
Nicodelmine
Nicolar
Niconacid
Nicosan 3
Nicotinate
Nicotinic Acid
Nicotinic acid
Nicotinipca
Nicyl
Nikotinsaeure
Nyclin
P.P. factor
PP Factor
Pellagra preventive factor
Pellagrin
Pelonin
Pyridine-beta-carboxylic acid
Slo-niacin
Vitamin B3
Wampocap
beta-Pyridinecarboxylic acid
pyridine-β-carboxylic acid
β-pyridinecarboxylic acid
19FolateNutraceuticalPhase 14143
20Vitamin B3NutraceuticalPhase 1862
21
Folic AcidNutraceuticalPhase 1414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
22
CreatineNutraceuticalPhase 111057-00-1586
Synonyms:
((amino(Imino)methyl)(methyl)amino)acetic acid
((amino(imino)methyl)(methyl)amino)acetate
((amino(imino)methyl)(methyl)amino)acetic acid
(N-methylcarbamimidamido)acetic acid
(alpha-Methylguanido)acetate
(alpha-Methylguanido)acetic acid
(α-methylguanido)acetic acid
Cosmocair C 100
Creatin
Creatine
Creatine hydrate
Kreatin
 
Krebiozon
Methylglycocyamine
Methylguanidoacetate
Methylguanidoacetic acid
N-(Aminoiminomethyl)-N-Methyl-Glycine
N-(aminoiminomethyl)-N-methylglycine
N-Amidinosarcosine
N-Carbamimidoyl-N-methylglycine
N-Methyl-N-guanylglycine
N-[(e)-AMINO(imino)methyl]-N-methylglycine
Phosphagen
[[Amino(imino)methyl](methyl)amino]acetate
[[Amino(imino)methyl](methyl)amino]acetic acid
alpha-Methylguanidino acetic acid
23
NicotinamideNutraceuticalPhase 185898-92-0936
Synonyms:
.beta.-Pyridinecarboxamide
11032-50-1
123574-63-0
1yc5
3 Pyridinecarboxamide
3-Carbamoylpyridine
3-Pyridinecarboxamide
3-Pyridinecarboxylic acid amide
37321-14-5
47865U_SUPELCO
55600-01-6
63748-44-7
72340_FLUKA
72340_SIGMA
72347_FLUKA
78731-47-2
98-92-0
A186B02E-6C70-4E54-9739-79398D439AAA
AC-907/25014114
AC1L1ACZ
AC1Q4ZFV
AI3-02906
Acid amide
Amid kyseliny nikotinove
Amid kyseliny nikotinove [Czech]
Amide PP
Aminicotin
Amixicotyn
Amnicotin
Astra Brand of Niacinamide
Austrovit PP
B 3, Vitamin
B3, Vitamin
BB_NC-2290
Benicot
C00153
C6H6N2O
CCRIS 1901
CHEBI:17154
CHEMBL1140
CID936
CPD000058212
D00036
D009536
DB02701
DEA No. 1405
Delonin Amide
Delonin amide
Dipegyl
Dipigyl
EINECS 202-713-4
EINECS 234-265-0
Endobion
Enduramide
Factor pp
HMS2052M21
HMS2090B05
HMS2093H03
HSDB 1237
Hansamid
I02-1741
I02-2250
InChI=1/C6H6N2O/c7-6(9)5-2-1-3-8-4-5/h1-4H,(H2,7,9
Inovitan PP
Jenapharm Brand of Niacinamide
Jenapharm, Nicotinsaureamid
LS-2051
MLS000069714
Mediatric
Merck Brand of Niacinamide
MolMap_000061
MolPort-001-783-876
N0078
N0636_SIGMA
N2142_SIGMA
N3376_SIGMA
N5535_SIAL
NAM
NCGC00093354-03
NCGC00093354-04
NSC 13128
NSC13128
NSC27452
Nandervit-N
Niacevit
Niacinamide
Niacinamide (USP)
Niacinamide Astra Brand
Niacinamide Jenapharm Brand
Niacinamide Merck Brand
 
Niacinamide Pharmagenix Brand
Niacinamide [USAN]
Niacinamide, Nicotinic acid amide, Nicotinamide
Niacotinamide
Niamide
Niavit PP
Nicamide
Nicamina
Nicamindon
Nicasir
Nicobion
Nicofort
Nicogen
Nicomidol
Nicosan 2
Nicosylamide
Nicota
Nicotamide
Nicotilamide
Nicotililamido
Nicotinamid
Nicotinamida
Nicotinamida [INN-Spanish]
Nicotinamide
Nicotinamide (JP15/INN)
Nicotinamide (Niacinamide)
Nicotinamide, niacin, vitamin B3
Nicotinamide-carbonyl-14C
Nicotinamidum
Nicotinamidum [INN-Latin]
Nicotine acid amide
Nicotine amide
Nicotinic acid amide
Nicotinic amide
Nicotinsaeureamid
Nicotinsaureamid
Nicotinsaureamid Jenapharm
Nicotinsaureamid [German]
Nicotol
Nicotylamide
Nicotylamidum
Nicovel
Nicovit
Nicovitina
Nicovitol
Nicozymin
Nictoamide
Nikasan
Nikazan
Niko-tamin
Nikotinamid
Nikotinsaeureamid
Nikotinsaeureamid [German]
Niocinamide
Niozymin
PP-Faktor
Papulex
Pelmin
Pelmine
Pelonin amide
Pharmagenix Brand of Niacinamide
Propamine A
Pyridine-3-carboxylic acid amide
S1899_Selleck
SAM001246860
SGCUT00176
SMR000058212
Savacotyl
UNII-25X51I8RD4
Vi-Nicotyl
Vi-noctyl
Vitamin B
Vitamin B (VAN)
Vitamin B 3
Vitamin B3
Vitamin H1
Vitamin PP
WLN: T6NJ CVZ
Witamina PP
ZINC00005878
b-Pyridinecarboxamide
beta-Pyridinecarboxamide
bmse000281
m-(Aminocarbonyl)pyridine
nchembio.154-comp4
nchembio.73-comp6
niacin - Vitamin B3
niacinamide
nicotinamide
pyridine-3-carboxamide
to_000073
vitamin PP
24pyruvateNutraceuticalPhase 134
25carnitineNutraceuticalPhase 1152
26Dopamine agonists611
27FluoridesPhase 0405
28
Iron10807439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
29
Ethanol197164-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
30COLANutraceutical1824

Interventional clinical trials:

(show top 50)    (show all 63)
idNameStatusNCT IDPhase
1Efficacy of Aurosling in Frontalis Sling Suspension SurgeryCompletedNCT00753831Phase 4
2Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear PalsyCompletedNCT01110720Phase 2, Phase 3
3Effects of Coenzyme Q10 in PSP and CBDCompletedNCT00532571Phase 2, Phase 3
4Effects of Coenzyme Q10 in Progressive Supranuclear Palsy (PSP)CompletedNCT00382824Phase 2, Phase 3
5Efficacy of RIVAstigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear PalsyRecruitingNCT02839642Phase 3
6Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
7Efficacy, Tolerability and Safety of Azilect in Subjects With Progressive Supranuclear PalsyTerminatedNCT01187888Phase 3
8Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS)TerminatedNCT00211224Phase 3
9Trial of Valproic Acid in Patients With Progressive Supranuclear Palsy (Depakine)CompletedNCT00385710Phase 2
10A Pilot Trial of Lithium in Subjects With Progressive Supranuclear Palsy or Corticobasal DegenerationCompletedNCT00703677Phase 1, Phase 2
11Study About Safety and Efficacy of Coenzyme Q10 in Progressive Supranuclear PalsyCompletedNCT00328874Phase 2
12Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) to Treat Progressive Supranuclear PalsyCompletedNCT00005903Phase 2
13Study and Treatment of Visual Dysfunction and Motor Fatigue in Multiple SclerosisRecruitingNCT02391961Phase 2
14Clinical Trial to Evaluate Bone Marrow Stem Cell Therapy for PSP, a Rare Form of ParkinsonismRecruitingNCT01824121Phase 1, Phase 2
15Efficacy Study for Treatment of Dementia in Progressive Supranuclear PalsyRecruitingNCT00522015Phase 2
16Study of the Distractibility Syndrome in Patients With Progressive Supranuclear PalsyRecruitingNCT00139373Phase 2
17EPI-743 for Mitochondrial Respiratory Chain DiseasesActive, not recruitingNCT01370447Phase 2
18Davunetide (AL-108) in Predicted Tauopathies - Pilot StudyActive, not recruitingNCT01056965Phase 2
19A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
20Tau Imaging in Subjects With Progressive Supranuclear Palsy, Corticobasal Degeneration and Healthy VolunteersCompletedNCT02167594Phase 1
21A Pilot Clinical Trial of Pyruvate, Creatine, and Niacinamide in Progressive Supranuclear Palsy.CompletedNCT00605930Phase 1
22Young Plasma Transfusions for Progressive Supranuclear PalsyRecruitingNCT02460731Phase 1
23A 6 Month, Open-Label, Pilot Futility Clinical Trial of Oral Salsalate for Progressive Supranuclear PalsyRecruitingNCT02422485Phase 1
24Safety Study of TPI-287 to Treat CBS and PSPRecruitingNCT02133846Phase 1
25Evaluation of [18F]MNI-777 PET as a Marker of Tau Pathology in Subjects With Tauopathies Compared to Healthy SubjectsRecruitingNCT02103894Phase 1
26Safety, Tolerability, and Pharmacokinetics of C2N-8E12 in Subjects With Progressive Supranuclear PalsyActive, not recruitingNCT02494024Phase 1
27Multiple Ascending Dose Study of Intravenously Administered BMS-986168 in Patients With Progressive Supranuclear PalsyActive, not recruitingNCT02460094Phase 1
28Alpha-lipoic Acid/L-acetyl Carnitine for Progressive Supranuclear PalsyActive, not recruitingNCT01537549Phase 1
29Extension Study of BMS-986168 in Patients With Progressive Supranuclear Palsy Who Participated in CN002003Enrolling by invitationNCT02658916Phase 1
30Nutritional Assessment in Mitochondrial CytopathyCompletedNCT02375438
31Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial CytopathyCompletedNCT02385565
32MRI Study - Chronic Progressive External OphthalmoplegiaCompletedNCT02161848
33Compression Stocking Use in Shoulder Arthroscopy in Beach ChairCompletedNCT01996813
34Natural History in CCFDN and IBM SyndromesCompletedNCT01902940
35Deep TMS for the Treatment of Patients With Parkinson's Disease and Progressive Supranuclear PalsyCompletedNCT02734485
36Predictive and Diagnostic Value of Tau and Beta-amyloid Markers in the Dementia of Parkinson's DiseaseCompletedNCT02243982Phase 0
372-(1-{6-[(2-[F-18]Fluoroethyl) (Methyl)Amino]-2-naphthyl} Ethylidene) Malononitrile-PET for in Vivo Diagnose of Tauopathy in Unclassified ParkinsonismCompletedNCT02214862Phase 0
38Rehabilitation in Patients With Progressive Supranuclear PalsyCompletedNCT02109393
39Analysis of the Enteric Nervous System Using Colonic BiopsiesCompletedNCT01353183
40Evaluating Cerebrospinal Fluid Biomarkers in Alzheimer's, Progressive Supranuclear Palsy Subjects, and ControlsCompletedNCT01348061
41Repetitive Transcranial Magnetic Stimulation (TMS) for Progressive Supranuclear Palsy and Corticobasal DegenerationCompletedNCT01174771
42Safety, Tolerability, and Efficacy of Two Different Oral Doses of NP031112 Versus Placebo in the Treatment of Patients With Mild-to-Moderate Progressive Supranuclear PalsyCompletedNCT01049399
43Research of Biomarkers in Parkinson DiseaseCompletedNCT00465790Phase 0
44Risk Factors for Progressive Supranuclear Palsy (PSP)CompletedNCT00431301
45Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
46Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554
47PROgressive Supranuclear Palsy CorTico-Basal Syndrome Multiple System Atrophy Longitudinal Study UKRecruitingNCT02778607
48A Molecular Anatomic Imaging Analysis of Tau in Progressive Supranuclear PalsyRecruitingNCT02605785
49Evaluation of [18F]MNI-815 as a Potential PET Radioligand for Imaging Tau Protein in the Brain of Patients With TauopathiesRecruitingNCT02531360Phase 0
50Magnetic Resonance Imaging in the Diagnosis of Parkinsonian SyndromesRecruitingNCT02445469

Search NIH Clinical Center for Kearns-Sayre Syndrome


Cochrane evidence based reviews: ophthalmoplegia

Genetic Tests for Kearns-Sayre Syndrome

About this section

Genetic tests related to Kearns-Sayre Syndrome:

id Genetic test Affiliating Genes
1 Kearns Sayre Syndrome25
2 Ophthalmoplegia25
3 Kearns-Sayre Syndrome23

Anatomical Context for Kearns-Sayre Syndrome

About this section

MalaCards organs/tissues related to Kearns-Sayre Syndrome:

34
Retina, Eye, Heart, Brain, Skeletal muscle, Spinal cord, Bone

Animal Models for Kearns-Sayre Syndrome or affiliated genes

About this section

Publications for Kearns-Sayre Syndrome

About this section

Articles related to Kearns-Sayre Syndrome:

(show top 50)    (show all 273)
idTitleAuthorsYear
1
Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension. (25798394)
2015
2
Descemet membrane endothelial keratoplasty in a child with corneal endothelial dysfunction in kearns-sayre syndrome. (25211357)
2014
3
Progression of normal tension glaucoma in Kearns-Sayre syndrome over 10 years. (22004289)
2012
4
RNA-mediated restoration of mitochondrial function in cells harboring a Kearns Sayre Syndrome mutation. (21406250)
2011
5
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. (20388557)
2010
6
Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions. (20497429)
2010
7
Anesthetic considerations in a teenager with advanced symptoms of Kearns-Sayre syndrome. (19645998)
2009
8
De Toni-DebrAc-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report. (19946579)
2009
9
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. (17720198)
2008
10
Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes. (16773512)
2006
11
Kearns Sayre syndrome: an unusual form of mitochondrial diabetes. (16735969)
2006
12
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son. (14627683)
2003
13
Kearns-Sayre syndrome, abnormal corneal endothelium and normal tension glaucoma. (14510810)
2003
14
Kearns-Sayre syndrome associated with de Toni-DebrAc-Fanconi syndrome due to cytochrome-c-oxidase (COX) deficiency. (11579332)
2001
15
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria. (10655159)
2000
16
Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia. (10683696)
1999
17
Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion. (10333230)
1999
18
Aplastic anaemia in association with Kearns-Sayre syndrome. (10070624)
1999
19
Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy. (9832255)
1998
20
Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome. (9701704)
1998
21
Cochlear implantation in a patient with mitochondrial disease--Kearns-Sayre syndrome: a case report. (9042518)
1997
22
Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome. (9029638)
1997
23
Pernicious anaemia and hypoparathyroidism in a patient with Kearns-Sayre syndrome with mitochondrial DNA duplication. (8739941)
1996
24
Exercise intolerance in Kearns-Sayre syndrome. (18638908)
1996
25
Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study. (7561952)
1995
26
Sinus dysrhythmia in Kearns-Sayre syndrome. (7517537)
1994
27
Progressive brainstem and white matter lesions in Kearns-Sayre syndrome: a case report. (7892965)
1994
28
Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? (7951243)
1994
29
Progression of myopathology in Kearns-Sayre syndrome: a morphological follow-up study. (8393264)
1993
30
Manometric characteristics of cervical dysphagia in a patient with the Kearns-Sayre syndrome. (1397892)
1992
31
Detection of deletions in platelet mitochondrial DNA in Kearns-Sayre syndrome using polymerase chain reaction]. (1950835)
1991
32
Kearns-Sayre syndrome--a case report. (2086479)
1990
33
Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. (1689952)
1990
34
Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome. (2161456)
1990
35
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
36
Kearns-Sayre syndrome and complex II deficiency. (2710360)
1989
37
Kearns-Sayre syndrome and primary open-angle glaucoma. (2774047)
1989
38
Diabetes mellitus in Kearns-Sayre syndrome. (3284750)
1988
39
Reversible ischemic neurologic deficit in a patient with the Kearns-Sayre syndrome. (3363584)
1988
40
Ultrastructural findings in endomyocardial biopsy of patients with Kearns-Sayre syndrome. (3192850)
1988
41
Mitochondrial function in Kearns-Sayre syndrome. (3368088)
1988
42
Kearns-Sayre syndrome: biochemical studies of mitochondrial metabolism. (2849368)
1988
43
Mitochondrial studies in Kearns-Sayre syndrome: normal respiratory chain function with absence of a mitochondrial translation product. (3627452)
1987
44
Congestive heart failure due to mitochondrial cardiomyopathy in Kearns-Sayre syndrome. (3599796)
1987
45
Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome. (3703509)
1986
46
Decreased activities in mitochondrial inner membrane electron transport system in muscle from patients with Kearns-Sayre syndrome. (4087020)
1985
47
Kearns-Sayre syndrome. (7171761)
1982
48
Optic neuritis and heart block in Kearns-Sayre syndrome. (6943448)
1981
49
Cardiac conduction in the Kearns-Sayre syndrome (a neuromuscular disorder associated with progressive external ophthalmoplegia and pigmentary retinopathy). Report of 2 cases and review of 17 published cases. (506943)
1979
50
Kearns-Sayre syndrome or ophthalmoplegia-plus? To lump or to split? (1028217)
1976

Variations for Kearns-Sayre Syndrome

About this section

Clinvar genetic disease variations for Kearns-Sayre Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MT-TANC_012920.1: m.5631G> Asingle nucleotide variantPathogenicrs786200950GRCh37Chr MT, 5631: 5631
2MT-TANC_012920.1: m.5610G> Asingle nucleotide variantPathogenicrs786200951GRCh37Chr MT, 5610: 5610
3MT-TYm.5888delTdeletionPathogenicrs118203892GRCh37Chr MT, 5888: 5888
4MT-TYm.5877C> Tsingle nucleotide variantPathogenicrs118203893GRCh37Chr MT, 5877: 5877
5MT-TWm.5521G> Asingle nucleotide variantPathogenicrs199474673GRCh37Chr MT, 5521: 5521
6MT-TMm.4409T> Csingle nucleotide variantPathogenicrs118203884GRCh37Chr MT, 4409: 4409
7MT-TL2m.12320A> Gsingle nucleotide variantPathogenicrs121434463GRCh37Chr MT, 12320: 12320
8MT-TL1m.3249G> Asingle nucleotide variantPathogenicrs199474667GRCh37Chr MT, 3249: 3249
9MT-TAm.5591G> Asingle nucleotide variantPathogenicrs121434458GRCh37Chr MT, 5591: 5591

Expression for genes affiliated with Kearns-Sayre Syndrome

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

Pathways for genes affiliated with Kearns-Sayre Syndrome

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GO Terms for genes affiliated with Kearns-Sayre Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial proton-transporting ATP synthase complexGO:000575310.8MT-ATP6, MT-ATP8
2mitochondrionGO:00057398.9C10orf2, MT-ATP8, MT-CYB, MT-ND4, POLG, RRM2B
3mitochondrial inner membraneGO:00057438.9MT-ATP6, MT-ATP8, MT-CYB, MT-ND4, MT-ND5, MT-ND6

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial genome maintenanceGO:000000210.5SLC25A4, TYMP
2mitochondrial ATP synthesis coupled proton transportGO:004277610.5MT-ATP6, MT-ATP8
3ATP biosynthetic processGO:000675410.4MT-ATP6, MT-ATP8
4mitochondrial respiratory chain complex I assemblyGO:003298110.1MT-ND4, MT-ND5, MT-ND6
5mitochondrial DNA replicationGO:00062649.9C10orf2, POLG, RRM2B
6response to hyperoxiaGO:00550939.8MT-ATP6, MT-ATP8, MT-CYB, POLG
7mitochondrial electron transport, NADH to ubiquinoneGO:00061209.8MT-ND4, MT-ND5, MT-ND6

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

idNameGO IDScoreTop Affiliating Genes
1hydrogen ion transmembrane transporter activityGO:001507810.1MT-ATP6, MT-ATP8
2NADH dehydrogenase (ubiquinone) activityGO:00081379.9MT-ND4, MT-ND5, MT-ND6
3transmembrane transporter activityGO:00228579.9MT-ATP6, MT-ATP8

Sources for Kearns-Sayre Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet