KSS
MCID: KRN002
MIFTS: 61

Kearns-Sayre Syndrome (KSS) 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:
11Disease Ontology, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Kearns-Sayre Syndrome:

Name: Kearns-Sayre Syndrome 52 11 48 24 25 49 54 27 50 39 13 68
Ophthalmoplegia 11 39 13
Kss 48 24 25
Ophthalmoplegia Plus Syndrome 48 27
Mitochondrial Cytopathy 48 68
Total Ophthalmoplegia 11 68
Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy 48
Ophthalmoplegia, Progressive External, with Ragged Red Fibers 48
 
Chronic Progressive External Ophthalmoplegia with Myopathy 48
Kearns-Sayre Mitochondrial Cytopathy 25
Cpeo with Ragged Red Fibers 48
Oculocraniosomatic Syndrome 48
Mitochondrial Myopathies 68
Oculomotor Paralysis 11
Cpeo with Myopathy 48

Characteristics:

Orphanet epidemiological data:

54
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:

64
kearns-sayre syndrome:
Inheritance: mitochondrial inheritance

Classifications:



External Ids:

OMIM52 530000
Disease Ontology11 DOID:12934, DOID:539
ICD1030 H49.81, H49.3
ICD9CM32 378.56
Orphanet54 ORPHA480
ICD10 via Orphanet31 H49.8
MESH via Orphanet40 D007625
UMLS via Orphanet69 C0022541

Summaries for Kearns-Sayre Syndrome

About this section
Genetics Home Reference:25 Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis). Affected individuals also have an eye condition called pigmentary retinopathy, which results from breakdown (degeneration) of the light-sensing tissue at the back of the eye (the retina) that gives it a speckled and streaked appearance. The retinopathy may cause loss of vision. In addition, people with Kearns-Sayre syndrome have at least one of the following signs or symptoms: abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects), problems with coordination and balance that cause unsteadiness while walking (ataxia), or abnormally high levels of protein in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF).

MalaCards based summary: Kearns-Sayre Syndrome, also known as ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and myopathy, and has symptoms including cerebellar ataxia, cerebellar ataxia and seizures. 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 eye, retina and heart.

NIH Rare Diseases:48 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:49 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.

Wikipedia:71 Kearns–Sayre syndrome (KSS) is a mitochondrial myopathy with a typical onset before 20 years of... more...

Description from OMIM:52 530000

Related Diseases for Kearns-Sayre Syndrome

About this section

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

(show top 50)    (show all 111)
idRelated DiseaseScoreTop Affiliating Genes
1chronic progressive external ophthalmoplegia11.7
2myopathy11.5
3pearson syndrome11.3
4mitochondrial complex ii deficiency11.2
5mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes11.2
6mitochondrial disorders11.2
7progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 211.1
8progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 311.1
9progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 411.1
10progressive external ophthalmoplegia, autosomal recessive 111.1
11progressive external ophthalmoplegia, autosomal dominant 111.1
12hypoparathyroidism10.4
13cardiomyopathy10.4
14traumatic avascular necrosis10.4MT-ATP6, MT-ATP8
15door syndrome10.3MT-TL1, POLG
16dsg2-related dilated cardiomyopathy10.3MT-TK, MT-TL1
17herpes simplex encephalitis 210.3MT-TL1, SLC25A4
18combined pituitary hormone deficiency10.3POLG, TWNK
19nonsyndromic 46,xx testicular disorders of sex development10.3POLG, TYMP
20perrault syndrome 510.3MT-TL1, TWNK
21peroxisome biogenesis disorders, zellweger syndrome spectrum10.3POLG, TWNK
22syphilitic encephalitis10.3MT-ATP8, MT-ND5, MT-TL1
23levy-shanske syndrome10.3MT-TL1, POLG
24mental retardation, obesity, mandibular prognathism, and eye and skin anomalies10.3MT-TK, MT-TL1
25atrioventricular block10.3
26cerebritis10.3
27mitochondrial encephalomyopathy10.3
28encephalomyopathy10.3
29cylindrical spirals myopathy10.3MT-ATP6, MT-TK
30microlissencephaly iii10.3MT-TK, MT-TL1
31idiopathic dropped head syndrome10.3POLG, RRM2B, TYMP
32parkinson disease 6, early onset10.3MT-ND5, MT-ND6
33neurodegeneration due to cerebral folate transport deficiency10.3KIF21A, PHOX2A
34fanconi anemia, complementation group i10.3POLG, TWNK
35liddle syndrome, scnn1g-related10.3MT-ATP6, MT-ATP8
36megalencephalic leukoencephalopathy with subcortical cysts10.3MT-TK, POLG, TYMP
37allergic contact dermatitis of eyelid10.3MT-ND4, MT-ND5, MT-ND6
38lentigo maligna melanoma10.3MT-ND4, MT-ND6
39ptosis10.2
40uterine ligament serous adenocarcinoma10.2MAG, MT-ND4, MT-ND6
41moebius axonal neuropathy hypogonadism10.2MT-ATP6, MT-ATP8
42enteropathica10.2MT-ND4, MT-ND5, MT-ND6, TYMP
43deafness, autosomal dominant 3010.2POLG, TYMP
44dilated cardiomyopathy10.2
45fanconi syndrome10.2
46choroiditis10.2
47neuropathy10.2
48mitochondrial cardiomyopathy10.2
49bbs2-related bardet-biedl syndrome10.2POLG, RRM2B, SLC25A4, TWNK
50pellagra10.2MT-TK, TYMP

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



Diseases related to kearns-sayre syndrome

Symptoms & Phenotypes for Kearns-Sayre Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

530000

Clinical features from OMIM:

530000

Human phenotypes related to Kearns-Sayre Syndrome:

 54 64 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment64 54 Frequent (79-30%) HP:0000365
2 progressive external ophthalmoplegia64 54 Very frequent (99-80%) HP:0000590
3 anterior hypopituitarism64 54 Frequent (79-30%) HP:0000830
4 ataxia64 54 Frequent (79-30%) HP:0001251
5 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
6 reduced tendon reflexes64 54 Frequent (79-30%) HP:0001315
7 third degree atrioventricular block64 54 Very frequent (99-80%) HP:0001709
8 delayed skeletal maturation64 54 Occasional (29-5%) HP:0002750
9 ragged-red muscle fibers64 54 Frequent (79-30%) HP:0003200
10 skeletal muscle atrophy64 54 Frequent (79-30%) HP:0003202
11 emg abnormality64 54 Frequent (79-30%) HP:0003457
12 hemiplegia/hemiparesis64 54 Occasional (29-5%) HP:0004374
13 progressive intervertebral space narrowing64 54 Frequent (79-30%) HP:0004622
14 abnormality of retinal pigmentation64 54 Very frequent (99-80%) HP:0007703
15 microcephaly64 HP:0000252
16 sensorineural hearing impairment64 HP:0000407
17 ptosis64 HP:0000508
18 pigmentary retinopathy64 HP:0000580
19 dementia64 HP:0000726
20 sensory neuropathy64 HP:0000763
21 diabetes mellitus64 HP:0000819
22 hypoparathyroidism64 HP:0000829
23 seizures64 HP:0001250
24 muscle weakness64 HP:0001324
25 cardiomyopathy64 HP:0001638
26 sideroblastic anemia64 HP:0001924
27 renal tubular acidosis64 HP:0001947
28 renal fanconi syndrome64 HP:0001994
29 basal ganglia calcification64 HP:0002135
30 increased csf protein64 HP:0002922
31 lactic acidosis64 HP:0003128
32 short stature64 HP:0004322
33 primary adrenal insufficiency64 HP:0008207

UMLS symptoms related to Kearns-Sayre Syndrome:


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

Drugs & Therapeutics for Kearns-Sayre Syndrome

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

(show top 50)    (show all 84)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SiliconPhase 41037440-21-34082203
Synonyms:
Si
 
Silica
Silicate
Silicic acid
2
Rivastigmineapproved, investigationalPhase 3, Phase 283123441-03-277991
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
3
Riluzoleapproved, investigationalPhase 3651744-22-55070
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
4
RasagilineapprovedPhase 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
5Neurotransmitter AgentsPhase 3, Phase 218340
6Protective AgentsPhase 3, Phase 2, Phase 17443
7Neuroprotective AgentsPhase 3, Phase 21716
8Cholinesterase InhibitorsPhase 3, Phase 2592
9Cholinergic AgentsPhase 3, Phase 23992
10UbiquinonePhase 2, Phase 3145
11Trace ElementsPhase 2, Phase 3, Phase 16001
12MicronutrientsPhase 2, Phase 3, Phase 16001
13AnticonvulsantsPhase 3, Phase 22695
14VitaminsPhase 2, Phase 3, Phase 15282
15Excitatory Amino Acid AntagonistsPhase 31347
16Excitatory Amino AcidsPhase 31362
17
Coenzyme Q10experimental, NutraceuticalPhase 2, Phase 3121303-98-05281915
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
18
DonepezilapprovedPhase 2286120014-06-43152
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
19
Valproic Acidapproved, investigationalPhase 232799-66-13121
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
20
Cysteamineapproved, investigationalPhase 22760-23-16058
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
21
Acetylcarnitineapproved, investigationalPhase 1, Phase 2443040-38-81
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
22
4-AminopyridineapprovedPhase 269504-24-51727
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
23
Folic Acidapproved, nutraceutical, vet_approvedPhase 1, Phase 2439259-30-36037
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
24Nootropic AgentsPhase 2, Phase 1716
25Pharmaceutical SolutionsPhase 1, Phase 28192
26AnestheticsPhase 1, Phase 29596
27GABA AgentsPhase 21684
28Vitamin B ComplexPhase 1, Phase 24337
29Lithium carbonatePhase 1, Phase 2240554-13-2
30Thioctic AcidPhase 1, Phase 2118
31AntioxidantsPhase 1, Phase 23050
32Tranquilizing AgentsPhase 2, Phase 14265
33Psychotropic DrugsPhase 2, Phase 16430
34Central Nervous System DepressantsPhase 2, Phase 113403
35Antimanic AgentsPhase 2, Phase 1814
36Antidepressive AgentsPhase 1, Phase 22736
37Potassium Channel BlockersPhase 2180
38FolateNutraceuticalPhase 1, Phase 24392
39Alpha-lipoic AcidNutraceuticalPhase 1, Phase 2118
40carnitineNutraceuticalPhase 1, Phase 2162
41Vitamin B9NutraceuticalPhase 1, Phase 24392
42
DopamineapprovedPhase 1383651-61-6, 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
43
Salicylic acidapproved, vet_approvedPhase 118969-72-7338
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
44
Benzoic AcidapprovedPhase 1865-85-0243
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
45Dopamine AgentsPhase 13836
46SalicylatesPhase 1100
47AnalgesicsPhase 111733
48Sodium salicylatePhase 12754-21-7
49Peripheral Nervous System AgentsPhase 123689
50Salicylsalicylic acidPhase 127

Interventional clinical trials:

(show top 50)    (show all 76)
idNameStatusNCT IDPhase
1Efficacy of Aurosling in Frontalis Sling Suspension SurgeryCompletedNCT00753831Phase 4
2Effects of Coenzyme Q10 in PSP and CBDCompletedNCT00532571Phase 2, Phase 3
3Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear PalsyCompletedNCT01110720Phase 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
6Efficacy, Tolerability and Safety of Azilect in Subjects With Progressive Supranuclear PalsyTerminatedNCT01187888Phase 3
7Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS)TerminatedNCT00211224Phase 3
8Clinical Trial to Evaluate Bone Marrow Stem Cell Therapy for PSP, a Rare Form of ParkinsonismUnknown statusNCT01824121Phase 1, Phase 2
9Efficacy Study for Treatment of Dementia in Progressive Supranuclear PalsyUnknown statusNCT00522015Phase 2
10Study of the Distractibility Syndrome in Patients With Progressive Supranuclear PalsyUnknown statusNCT00139373Phase 2
11Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial DiseaseCompletedNCT02023866Phase 2
12A Long-Term Extension Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial DiseaseCompletedNCT02473445Phase 2
13Trial of Valproic Acid in Patients With Progressive Supranuclear Palsy (Depakine)CompletedNCT00385710Phase 2
14Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) to Treat Progressive Supranuclear PalsyCompletedNCT00005903Phase 2
15Alpha-lipoic Acid/L-acetyl Carnitine for Progressive Supranuclear PalsyCompletedNCT01537549Phase 1, Phase 2
16A Pilot Trial of Lithium in Subjects With Progressive Supranuclear Palsy or Corticobasal DegenerationCompletedNCT00703677Phase 1, Phase 2
17Study About Safety and Efficacy of Coenzyme Q10 in Progressive Supranuclear PalsyCompletedNCT00328874Phase 2
18Study and Treatment of Visual Dysfunction and Motor Fatigue in Multiple SclerosisRecruitingNCT02391961Phase 2
19Study of BMS-986168 in Patients With Progressive Supranuclear PalsyRecruitingNCT03068468Phase 2
20A Study to Assess Efficacy, Safety, Tolerability, and Pharmacokinetics of ABBV-8E12 in Progressive Supranuclear PalsyRecruitingNCT02985879Phase 2
21EPI-743 for Mitochondrial Respiratory Chain DiseasesActive, not recruitingNCT01370447Phase 2
22Davunetide (AL-108) in Predicted Tauopathies - Pilot StudyActive, not recruitingNCT01056965Phase 2
23Tau Imaging in Subjects With Progressive Supranuclear Palsy, Corticobasal Degeneration and Healthy VolunteersCompletedNCT02167594Phase 1
24Evaluation of [18F]MNI-777 PET as a Marker of Tau Pathology in Subjects With Tauopathies Compared to Healthy SubjectsCompletedNCT02103894Phase 1
25Young Plasma Transfusions for Progressive Supranuclear PalsyRecruitingNCT02460731Phase 1
26A 6 Month, Open-Label, Pilot Futility Clinical Trial of Oral Salsalate for Progressive Supranuclear PalsyRecruitingNCT02422485Phase 1
27Safety, Tolerability, and Pharmacokinetics of C2N-8E12 in Subjects With Progressive Supranuclear PalsyActive, not recruitingNCT02494024Phase 1
28Multiple Ascending Dose Study of Intravenously Administered BMS-986168 in Patients With Progressive Supranuclear PalsyActive, not recruitingNCT02460094Phase 1
29Safety Study of TPI-287 to Treat CBS and PSPActive, not recruitingNCT02133846Phase 1
30Extension Study of BMS-986168 in Patients With Progressive Supranuclear Palsy Who Participated in CN002003Enrolling by invitationNCT02658916Phase 1
31Mitochondrial nt3243 A>G Mutation in TaiwanUnknown statusNCT02114554
32Foot Mechanical Stimulation for Treatment of Gait and Gait Related Disorders in Parkinson's Disease and Progressive Supranuclear Palsy.Unknown statusNCT01815281
33Robot Walking Rehabilitation in Parkinson's DiseaseUnknown statusNCT01668407
34Postural Instability in Progressive Supranuclear PalsyUnknown statusNCT01563276
35Diagnostic and Prognostic Biomarkers in Parkinson DiseaseUnknown statusNCT00653783
36Transcranial Duplex Scanning and Single Photon Emission Computer Tomography (SPECT) in Parkinsonian SyndromesUnknown statusNCT00368199Early Phase 1
37Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial CytopathyCompletedNCT02385565
38Nutritional Assessment in Mitochondrial CytopathyCompletedNCT02375438
39MRI Study - Chronic Progressive External OphthalmoplegiaCompletedNCT02161848
40Compression Stocking Use in Shoulder Arthroscopy in Beach ChairCompletedNCT01996813
41Natural History in CCFDN and IBM SyndromesCompletedNCT01902940
42Risk Factors for Progressive Supranuclear Palsy (PSP)CompletedNCT00431301
43Deep TMS for the Treatment of Patients With Parkinson's Disease and Progressive Supranuclear PalsyCompletedNCT02734485
44Evaluation of [18F]MNI-815 as a Potential PET Radioligand for Imaging Tau Protein in the Brain of Patients With TauopathiesCompletedNCT02531360Early Phase 1
45Predictive and Diagnostic Value of Tau and Beta-amyloid Markers in the Dementia of Parkinson's DiseaseCompletedNCT02243982Early Phase 1
462-(1-{6-[(2-[F-18]Fluoroethyl) (Methyl)Amino]-2-naphthyl} Ethylidene) Malononitrile-PET for in Vivo Diagnose of Tauopathy in Unclassified ParkinsonismCompletedNCT02214862Early Phase 1
47Rehabilitation in Patients With Progressive Supranuclear PalsyCompletedNCT02109393
48Analysis of the Enteric Nervous System Using Colonic BiopsiesCompletedNCT01353183
49Evaluating Cerebrospinal Fluid Biomarkers in Alzheimer's, Progressive Supranuclear Palsy Subjects, and ControlsCompletedNCT01348061
50Repetitive Transcranial Magnetic Stimulation (TMS) for Progressive Supranuclear Palsy and Corticobasal DegenerationCompletedNCT01174771

Search NIH Clinical Center for Kearns-Sayre Syndrome


Cochrane evidence based reviews: kearns-sayre syndrome

Genetic Tests for Kearns-Sayre Syndrome

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Genetic tests related to Kearns-Sayre Syndrome:

id Genetic test Affiliating Genes
1 Kearns Sayre Syndrome27
2 Ophthalmoplegia27
3 Kearns-Sayre Syndrome24

Anatomical Context for Kearns-Sayre Syndrome

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MalaCards organs/tissues related to Kearns-Sayre Syndrome:

36
Eye, Retina, Heart, Skeletal muscle, Brain, Spinal cord, Testes

Publications for Kearns-Sayre Syndrome

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Articles related to Kearns-Sayre Syndrome:

(show top 50)    (show all 280)
idTitleAuthorsYear
1
Kearns-Sayre syndrome: Absence of clinical response to treatment with oral folinic acid. (28318733)
2017
2
Diagnosis and Management of Kearns-Sayre Syndrome Rely on Comprehensive Clinical Evaluation. (27748354)
2016
3
Classical triad of Kearns-Sayre syndrome. (27389730)
2016
4
Corneal Involvement in Kearns-Sayre Syndrome Responsive to Coenzyme-Q? (27741019)
2016
5
Histopathological comparison of Kearns-Sayre syndrome and PGC-1I+-deficient mice suggests a novel concept for vacuole formation in mitochondrial encephalopathy. (27179217)
2016
6
Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience. (27718492)
2016
7
Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome. (27270536)
2016
8
Dilated cardiomyopathy with cardiogenic shock in a child with Kearns-Sayre syndrome. (26884075)
2016
9
A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review. (27709644)
2016
10
Kearns-Sayre Syndrome Is a Rare Cause of Diabetes. (26680557)
2016
11
Diagnosis of Kearns-Sayre Syndrome Requires Comprehensive Work-up. (27748353)
2016
12
Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation. (27625108)
2016
13
NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME. (28296806)
2016
14
Peripheral Nerve Block is Safely Administered in a Patient with Kearns-Sayre Syndrome. (27174339)
2016
15
A rare case of Kearns-Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation. (26949540)
2016
16
Reprint of: Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. (27038137)
2016
17
Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. (25540845)
2015
18
Diabetes in Kearns-Sayre Syndrome: More Common than Anticipated. (25732757)
2015
19
Bilateral lid/brow elevation procedure for severe ptosis in Kearns-Sayre syndrome, a mitochondrial cytopathy. (25565765)
2015
20
Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension. (25798394)
2015
21
DEVELOPMENT OF CHRONIC SUBRETINAL FLUID IN KEARNS-SAYRE SYNDROME. (26536013)
2015
22
Descemet membrane endothelial keratoplasty in a child with corneal endothelial dysfunction in kearns-sayre syndrome. (25211357)
2014
23
Diabetes in pediatric patients with Kearns-Sayre syndrome: clinical presentation of 2 cases and a review of pathophysiology. (25092642)
2014
24
Kearns-Sayre syndrome: a case series of 35 adults and children. (25061332)
2014
25
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome. (25539952)
2014
26
Obstetric anesthesia considerations in Kearns-Sayre syndrome: a case report. (25368789)
2014
27
A Case Report of Complete Heart Block in an Uncommon Disease Entity: Kearns Sayre Syndrome. (26281482)
2014
28
New gout test: enhanced ex vivo cytokine production from PBMCS in common gout patients and a gout patient with Kearns-Sayre syndrome. (24760192)
2014
29
Kearns-Sayre syndrome presenting as isolated growth failure. (23420719)
2013
30
Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome. (23947115)
2013
31
Natural history of conduction abnormalities in a patient with Kearns-Sayre syndrome. (22614904)
2013
32
Phylogenetic analysis of mitochondrial DNA in a patient with Kearns- Sayre syndrome containing a novel 7629-bp deletion. (23391298)
2013
33
A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome. (22875312)
2013
34
Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome. (23087375)
2013
35
Hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report. (24665319)
2013
36
Retraction note to: kearns sayre syndrome - case report with review of literature. (23853060)
2013
37
A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment. (23421922)
2013
38
Kearns-Sayre syndrome: An unusual ophthalmic presentation. (22993469)
2012
39
Loss of myelin-associated glycoprotein in kearns-sayre syndrome. (22491194)
2012
40
Torsade de pointes in Kearns-Sayre syndrome. (22661355)
2012
41
Progression of normal tension glaucoma in Kearns-Sayre syndrome over 10 years. (22004289)
2012
42
Symptomatic complete heart block leading to a diagnosis of Kearns-Sayre syndrome. (23102393)
2012
43
Cardiac arrest in kearns-sayre syndrome. (23430846)
2012
44
Kearns Sayre Syndrome--case report with review of literature. (22231766)
2012
45
RNA-mediated restoration of mitochondrial function in cells harboring a Kearns Sayre Syndrome mutation. (21406250)
2011
46
Kearns Sayre Syndrome (KSS) - A Rare Cause For Cardiac Pacing. (21346823)
2011
47
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. (21378381)
2011
48
Heart transplantation for a patient with Kearns-Sayre syndrome and end-stage heart failure. (21450000)
2011
49
General anaesthesia for laparoscopic cholecystectomy in a patient with the kearns-sayre syndrome. (22606396)
2011
50
Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients. (21745599)
2011

Variations for Kearns-Sayre Syndrome

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Clinvar genetic disease variations for Kearns-Sayre Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MT-TYm.5888delTdeletionPathogenicrs118203892GRCh37Chr MT, 5888: 5888
2MT-TYm.5877C> TSNVPathogenicrs118203893GRCh37Chr MT, 5877: 5877
3MT-TL1m.3249G> ASNVPathogenicrs199474667GRCh37Chr MT, 3249: 3249

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:000575310.9MT-ATP6, MT-ATP8
2mitochondrial respiratory chain complex IVGO:000575110.7COX5A, MT-CO2
3mitochondrial membraneGO:003196610.7MT-ATP8, MT-ND4, MT-ND6
4proton-transporting ATP synthase complex, coupling factor F(o)GO:004526310.7MT-ATP6, MT-ATP8
5respiratory chainGO:00704699.5MT-CO2, MT-CYB, MT-ND4, MT-ND5, MT-ND6
6mitochondrial inner membraneGO:00057439.5COX5A, MT-ATP6, MT-ATP8, MT-CO2, MT-CYB, MT-ND4
7mitochondrionGO:00057399.0COX5A, MT-ATP8, MT-CO2, MT-CYB, MT-ND4, MT-ND5

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1ATP synthesis coupled proton transportGO:001598610.9MT-ATP6, MT-ATP8
2mitochondrial ATP synthesis coupled proton transportGO:004277610.9MT-ATP6, MT-ATP8
3mitochondrial genome maintenanceGO:000000210.8SLC25A4, TYMP
4mitochondrial electron transport, cytochrome c to oxygenGO:000612310.7COX5A, MT-CO2
5mitochondrial electron transport, NADH to ubiquinoneGO:000612010.6MT-ND4, MT-ND5, MT-ND6
6mitochondrial DNA replicationGO:000626410.6POLG, RRM2B, TWNK
7mitochondrial respiratory chain complex I assemblyGO:003298110.6MT-ND4, MT-ND5, MT-ND6
8ATP synthesis coupled electron transportGO:004277310.5MT-CO2, MT-ND4, MT-ND5
9hydrogen ion transmembrane transportGO:190260010.5COX5A, MT-CO2, MT-CYB
10proton transportGO:001599210.4MT-ATP6, MT-ATP8, MT-CYB
11oxidation-reduction processGO:00551149.9MT-CO2, MT-CYB, MT-ND4, MT-ND5, MT-ND6, RRM2B
12response to hyperoxiaGO:00550939.8MT-ATP6, MT-ATP8, MT-CYB, POLG

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

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:000813710.6MT-ND4, MT-ND5, MT-ND6
2oxidoreductase activityGO:00164919.4MT-CO2, MT-CYB, MT-ND4, MT-ND5, MT-ND6, RRM2B

Sources for Kearns-Sayre Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet