MCID: LGH007
MIFTS: 70

Leigh Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Leigh Syndrome

About this section

Aliases & Descriptions for Leigh Syndrome:

Name: Leigh Syndrome 52 11 48 24 25 70 50
Leigh Disease 11 48 24 25 70 39 13 68
Leigh's Disease 48 25 49 27
Leigh Syndrome Due to Mitochondrial Complex I Deficiency 52 24 70
Leigh Syndrome Due to Cytochrome C Oxidase Deficiency 52 24 12
Sne 48 24 70
Ls 48 24 70
Leigh Syndrome Due to Mitochondrial Complex Iii Deficiency 70 27
Leigh Syndrome Due to Mitochondrial Complex Ii Deficiency 70 27
Leigh Syndrome Due to Mitochondrial Complex 1 Deficiency 52 27
Necrotizing Encephalopathy Infantile Subacute of Leigh 48 70
Infantile Subacute Necrotizing Encephalopathy 48 25
Subacute Necrotizing Encephalomyelopathy 11 25
Cardiomyopathy with Hypotonia Due to Cytochrome C Oxidase Deficiency 54
Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy 54
Necrotizing Encephalopathy, Infantile, Subacute, of Leigh 24
Leigh Syndrome Due to Mitochondrial Complex Iv Deficiency 70
Necrotizing Encephalopathy, Infantile Subacute, of Leigh 68
 
Leigh Syndrome Due to Mitochondrial Complex V Deficiency 70
Leigh Syndrome Due to Mitochondrial Cox4 Deficiency 52
Cardiomyopathy with Myopathy Due to Cox Deficiency 54
Juvenile Subacute Necrotizing Encephalomyelopathy 11
Encephalopathy, Subacute Necrotizing, Infantile 68
Encephalopathy, Subacute Necrotizing, Juvenile 68
Juvenile Subacute Necrotizing Encephalopathy 25
Infantile Necrotizing Encephalomyelopathy 11
Leigh Syndrome, Due to Cox Deficiency 52
Subacute Necrotizing Encephalopathy 48
Maternally Inherited Leigh Syndrome 68
Maternally-Inherited Leigh Syndrome 54
Leigh Syndrome with Cardiomyopathy 54
Leigh's Necrotizing Encephalopathy 48
Maternally-Inherited Leigh Disease 54
Leigh Disease with Myopathy 54
Mils 54

Characteristics:

Orphanet epidemiological data:

54
maternally-inherited infantile subacute necrotizing encephalopathy:
Inheritance: Mitochondrial inheritance; Age of onset: Childhood,Infancy


Classifications:



External Ids:

OMIM52 256000
Disease Ontology11 DOID:3652
ICD1030 G31.82
MeSH39 D007888
NCIt45 C84814
SNOMED-CT62 29570005
UMLS via Orphanet69 C2931092
ICD10 via Orphanet31 G31.8

Summaries for Leigh Syndrome

About this section
NIH Rare Diseases:48 Leigh syndrome is a rare, inherited neurodegenerative condition. It usually becomes apparent in infancy, often after a viral infection. Rarely, it begins in the teenage or adult years. Signs and symptoms usually progress rapidly. Early symptoms may include poor sucking ability; loss of head control and motor skills; loss of appetite; vomiting; and seizures. As the condition progresses, symptoms may include weakness and lack of muscle tone; spasticity; movement disorders; cerebellar ataxia; and peripheral neuropathy. Complications can lead to impairment of respiratory, heart and kidney function. The term Leigh-like syndrome is often used for people with features that are strongly suggestive of Leigh syndrome but who do not meet the diagnostic criteria.  The inheritance of Leigh syndrome depends on where the responsible gene is located in each case. This is because it can be due to mutations in either mitochondrial DNA or nuclear DNA:Mitochondrial DNA-associated Leigh syndrome follows a mitochondrial inheritance pattern (also called maternal inheritance). Nuclear gene-encoded Leigh syndrome may be inherited in an autosomal recessive or X-linked manner. Treatment is based on the symptoms present and depends on the type of Leigh syndrome a person has. While life expectancy depends on the cause of Leigh syndrome in each person, most do not survive past mid-childhood or adolescence. Last updated: 12/27/2016

MalaCards based summary: Leigh Syndrome, also known as leigh disease, is related to mitochondrial complex i deficiency and mitochondrial complex iv deficiency, and has symptoms including strabismus, nystagmus and muscular hypotonia. An important gene associated with Leigh Syndrome is SURF1 (SURF1, Cytochrome C Oxidase Assembly Factor), and among its related pathways are tRNA Aminoacylation and Metabolism. Affiliated tissues include kidney, spinal cord and thalamus, and related mouse phenotype Decreased shRNA abundance.

Disease Ontology:11 A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.

UniProtKB/Swiss-Prot:70 Leigh syndrome: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.

NINDS:49 Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years.

Genetics Home Reference:25 Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure. A small number of individuals do not develop symptoms until adulthood or have symptoms that worsen more slowly.

OMIM:52 Leigh syndrome is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting... (256000) more...

Wikipedia:71 Leigh disease (also called Leigh syndrome and subacute necrotizing encephalomyelopathy ) is a rare... more...

Related Diseases for Leigh Syndrome

About this section

Diseases in the Leigh Syndrome family:

Leigh-Like Syndrome

Diseases related to Leigh Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial complex i deficiency33.2MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6
2mitochondrial complex iv deficiency32.3COX10, COX15, MT-TL1, SURF1
3mitochondrial disorders31.0COX10, COX15, NDUFA10, NDUFA12, NDUFS4, NDUFS7
4leigh syndrome, french-canadian type12.2
5mitochondrial dna-associated leigh syndrome and narp12.0
6mitochondrial dna-associated leigh syndrome11.9
7nuclear gene-encoded leigh syndrome11.9
8x-linked leigh syndrome11.8
9leigh syndrome with leukodystrophy11.7
10leigh syndrome with nephrotic syndrome11.7
11lichen sclerosus11.3
12pyruvate carboxylase deficiency11.0
13erb's palsy11.0COX10, NDUFS7, NDUFS8, SURF1
14polyhydramnios, megalencephaly, and symptomatic epilepsy10.9COX10, COX15, SURF1
15malignant perineurioma10.9COX15, NDUFA10, NDUFA12, NDUFS4, NDUFS7, NDUFS8
16lumbar malsegmentation short stature10.9COX10, COX15, MT-ATP6, NDUFA10, NDUFA12, NDUFS4
17coenzyme q10 deficiency, primary, 110.9
183-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome10.9
19enchondroma10.9MT-ND5, MT-ND6, NDUFS4
20clubfoot10.9MT-ND4, MT-ND5, MT-ND6
21cholestasis, benign recurrent intrahepatic, 210.9
22ocular albinism, x-linked10.9NDUFA12, NDUFS7
23alopecia, androgenetic, 210.9MT-ND1, MT-ND6
24paroxysomal nonkinesigenic dyskinesia10.8MT-ND1, MT-ND3, MT-ND4, MT-ND6
25wheat allergy10.8MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
26genital herpes10.8MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6
27parkinson disease 6, early onset10.8MT-ND5, MT-ND6
28cardiomelic syndrome stratton koehler type10.8COX15, SURF1
29coenzyme q10 deficiency, primary, 310.8
30mitochondrial complex ii deficiency10.8
31combined oxidative phosphorylation deficiency 1510.8
32coenzyme q10 deficiency, primary, 510.8
33mitochondrial complex iii deficiency, nuclear type 210.8
34striatonigral degeneration, infantile10.8
35mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes10.8
36mitochondrial infantile bilateral striatal necrosis10.8
37lfng-related spondylocostal dysostosis, autosomal recessive10.8NDUFS4, SURF1
38esophageal basaloid squamous cell carcinoma10.7MT-ATP6, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5
39childhood cerebral astrocytoma10.6COX10, COX15, MT-ATP6, MT-ND3, MT-ND5, MT-ND6
40adrenocortical insufficiency, without ovarian defect10.6MT-ND1, MT-ND2
41sparganosis10.5MT-ND3, MT-ND5, MT-TL1
42noninfectious dermatoses of eyelid10.5MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
43congenital fiber-type disproportion10.5MT-ATP6, MT-TK
44lymphoepithelioma-like carcinoma10.5MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
45cholera10.4MT-ATP6, MT-ND1
46african histoplasmosis10.3MT-ND4, MT-TV, MT-TW
47childhood electroclinical syndrome10.2MT-ND4, MT-TK
48mental retardation, obesity, mandibular prognathism, and eye and skin anomalies10.2MT-TK, MT-TL1
49multiple epiphyseal dysplasia with robin phenotype10.2MT-ND4, MT-ND5, MT-TK, MT-TL1
50ulceration of vulva10.2MT-ND4, MT-ND5, MT-TK, MT-TL1

Graphical network of the top 20 diseases related to Leigh Syndrome:



Diseases related to leigh syndrome

Symptoms & Phenotypes for Leigh Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

256000

Clinical features from OMIM:

256000

Human phenotypes related to Leigh Syndrome:

 64 (show all 32)
id Description HPO Frequency HPO Source Accession
1 strabismus64 hallmark (90%) HP:0000486
2 nystagmus64 hallmark (90%) HP:0000639
3 muscular hypotonia64 hallmark (90%) HP:0001252
4 respiratory insufficiency64 hallmark (90%) HP:0002093
5 incoordination64 hallmark (90%) HP:0002311
6 abnormality of movement64 hallmark (90%) HP:0100022
7 cognitive impairment64 hallmark (90%) HP:0100543
8 ophthalmoparesis64 typical (50%) HP:0000597
9 optic atrophy64 typical (50%) HP:0000648
10 seizures64 typical (50%) HP:0001250
11 sensorineural hearing impairment64 HP:0000407
12 ptosis64 HP:0000508
13 pigmentary retinopathy64 HP:0000580
14 ophthalmoplegia64 HP:0000602
15 emotional lability64 HP:0000712
16 hypertrichosis64 HP:0000998
17 intellectual disability64 HP:0001249
18 ataxia64 HP:0001251
19 spasticity64 HP:0001257
20 dysarthria64 HP:0001260
21 global developmental delay64 HP:0001263
22 dystonia64 HP:0001332
23 hyperreflexia64 HP:0001347
24 hepatocellular necrosis64 HP:0001404
25 failure to thrive64 HP:0001508
26 increased serum lactate64 HP:0002151
27 gliosis64 HP:0002171
28 increased csf lactate64 HP:0002490
29 abnormal pattern of respiration64 HP:0002793
30 respiratory failure64 HP:0002878
31 lactic acidosis64 HP:0003128
32 cns demyelination64 HP:0007305

UMLS symptoms related to Leigh Syndrome:


ataxia, muscle spasticity, ophthalmoplegia, seizures

GenomeRNAi Phenotypes related to Leigh Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00251-A-110.4COX10, NDUFA10, NDUFS7, NDUFS8, SDHA

Drugs & Therapeutics for Leigh Syndrome

About this section

Drugs for Leigh Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 229)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LevodopaapprovedPhase 4, Phase 338859-92-76047
Synonyms:
(-)-(3,4-Dihydroxyphenyl)alanine
(-)-3-(3,4-Dihydroxyphenyl)-L-alanine
(-)-3-(3,4-dihydroxyphenyl)-L-alanine
(-)-Dopa
(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate
(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid
(−)-3-(3,4-dihydroxyphenyl)-L-alanine
(−)-dopa
.Beta.-(3, 4-Dihydroxyphenyl)alanine
.Beta.-(3,4-Dihydroxyphenyl)-L-alanine
1E83F927-C221-46AA-B90A-81B33C5F3868
2-Amino-3-(3,4-dihydroxyphenyl)propanoic acid
23734-74-9
25525-15-9
3, 4-Dihydroxy-L-phenylalanine
3, 4-Dihydroxyphenylalanine
3,4-DIHYDROXYPHENYLALANINE
3,4-Dihydroxy-L-phenylalanine
3,4-Dihydroxyphenyl-L-alanine
3,4-Dihydroxyphenylalanine
3,4-Dihydroxyphenylalanine (VAN)
3,4-dihydroxy-L-phenylalanine
3,4-dihydroxyphenylalanine
3-(3,4-Dihydroxypheny
3-(3,4-Dihydroxyphenyl)-L-alanine
3-Hydroxy-L-tyrosine
34241-25-3
37830_FLUKA
587-45-1
59-92-7
72572-99-7
72573-00-3
88250-23-1
90638-38-3
AC-11686
AC1L1LOR
AC1Q4U7F
BIDD:GT0158
BPBio1_000059
BSPBio_000053
BSPBio_002354
Bendopa
Bio-0575
Biodopa
Brocadopa
C00355
C9H11NO4
CAS-59-92-7
CCRIS 3766
CHEBI:15765
CHEMBL1009
CID6047
Cerepap
Cidandopa
D 9628
D00059
D0600
D9628
D9628_SIGMA
DAH
DB01235
DOPA
Deadopa
Dihydroxy-L-phenylalanine
Dihydroxyphenylalanine
DivK1c_000452
Dopa
Dopaflex
Dopaidan
Dopal
Dopal-Fher
Dopal-fher
Dopalina
Dopar
Dopar (TN)
Doparkine
Doparl
Dopasol
Dopaston
Dopaston SE
Dopastone
Dopastral
Dopicar
Doprin
EINECS 200-445-2
EU-0100454
Eldopal
Eldopar
Eldopatec
Eurodopa
HMS1568C15
HMS1922J14
HMS2090O08
HMS2093N04
HMS501G14
HSDB 3348
Helfo DOPA
 
Helfo-Dopa
Helfo-dopa
IDI1_000452
IV Levodopa
InChI=1/C9H11NO4/c10-6(9(13)14)3-5-1-2-7(11)8(12)4-5/h1-2,4,6,11-12H,3,10H2,(H,13,14
Insulamina
KBio1_000452
KBio2_000934
KBio2_003502
KBio2_006070
KBioGR_001177
KBioSS_000934
L Dopa
L(-)-Dopa
L-(-)-Dopa
L-(3, 4-Dihydroxyphenyl)-.alpha.-alani
L-(3, 4-Dihydroxyphenyl)alanine
L-(o-Dihydroxyphenyl)alanine
L-.Beta.-(3,4-Dihydroxyphenyl)alanine
L-3,4-Dihydroxyphenylalanine
L-3,4-dihydroxyphenylalanine
L-3-(3,4-Dihydroxyphenyl)-Alanine
L-3-(3,4-Dihydroxyphenyl)alanine
L-3-Hydroxytyrosine
L-4-5-Dihydroxyphenylalanine
L-DOPA
L-DOPA, Parcopa, Atamet, Stalevo, Madopar, Prolopa, Dopar, 3,4-Dihydroxyphenylalanine, Levodopa
L-Dihydroxyphenylalanine
L-Dopa
L-O-Dihydroxyphenylalanine
L-b-(3,4-Dihydroxyphenyl)-a-alanine
L-beta-(3,4-Dihydroxyphenyl)-alpha-alanine
L-beta-(3,4-Dihydroxyphenyl)alanine
L-o-Hydroxytyrosine
LS-255
Laradopa
Larodopa
Ledopa
Levedopa
Levodopa
Levodopa (JP15/USP)
Levodopa (JP15/USP/INN)
Levodopa [USAN:INN:BAN:JAN]
Levodopum
Levodopum [INN-Latin]
Levopa
Lopac-D-9628
Lopac0_000454
MLS000028514
Maipedopa
MolPort-000-856-937
NCGC00015384-01
NCGC00016270-01
NCGC00016270-06
NCGC00093869-04
NINDS_000452
NSC 118381
NSC118381
PDSP1_001541
PDSP2_001525
Parda
Pardopa
Prestwick0_000017
Prestwick1_000017
Prestwick2_000017
Prestwick3_000017
Prestwick_185
Prodopa
Ro 4-6316
S1726_Selleck
SDCCGMLS-0066924.P001
SMR000058312
SPBio_000391
SPBio_001974
SPECTRUM2300205
Sobiodopa
Spectrum2_000496
Spectrum4_000539
Spectrum5_001899
Spectrum_000454
Syndopa
UNII-46627O600J
Veldopa
Weldopa
b-(3,4-Dihydroxyphenyl)-L-alanine
b-(3,4-Dihydroxyphenyl)-a-L-alanine
b-(3,4-Dihydroxyphenyl)alanine
beta-(3,4-Dihydroxyphenyl)-L-alanine
beta-(3,4-Dihydroxyphenyl)-alpha-L-alanine
beta-(3,4-Dihydroxyphenyl)-alpha-alanine
beta-(3,4-Dihydroxyphenyl)alanine
bmse000322
component of Sinemet
l)-L-alanine
nchembio.2007.55-comp26
nchembio.89-comp9
ne
β-(3,4-dihydroxyphenyl)alanine
2
DopamineapprovedPhase 4, Phase 3375951-61-6, 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
3
PantoprazoleapprovedPhase 4172102625-70-74679
Synonyms:
102625-70-7
5-(Difluoromethoxy)-2-(((3,4-dimethoxy-2-pyridyl)methyl)sulfinyl)benzimidazole
5-(difluoromethoxy)-2-{[(3,4-dimethoxypyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-(difluoromethoxy)-2-[(3,4-dimethoxypyridin-2-yl)methylsulfinyl]-1H-benzimidazole
AC-679
AC1L1IPJ
Astropan
BIDD:GT0003
BRD-A22380646-001-01-5
BSPBio_002320
BY 1023
BY-1023
C11806
C16H15F2N3O4S
CHEBI:519598
CHEBI:7915
CHEMBL1502
CID4679
D05353
DB00213
HMS1922H20
HMS2090H03
HMS2093F14
HSDB 7292
I06-0068
LS-32883
MolPort-003-666-752
MolPort-005-933-577
NCGC00095188-01
 
NCGC00095188-02
NCGC00095188-03
Pantoloc
Pantopan
Pantoprazol
Pantoprazol [INN-Spanish]
Pantoprazole (USAN/INN)
Pantoprazole Na
Pantoprazole Sodium
Pantoprazole Sodium Hydrate
Pantoprazole [USAN:BAN:INN]
Pantoprazole sodium
Pantoprazolum
Pantoprazolum [INN-Latin]
Pantoprozole
Pantor
Pantozol
Protium
Protonix
Protonix I.V.
Protonix IV
SBB070993
SK&F 96022
SK&F-96022
SK-96022
SKF-96022
SPECTRUM1505818
Somac
TL8000127
UNII-D8TST4O562
pantoprazole
4
CarbidopaapprovedPhase 417728860-95-934359, 38101
Synonyms:
(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid
(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazino-2-methylpropanoic acid
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid hydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid monohydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid--water (1/1)
(S)-(-)-carbidopa
(S)-(-)-carbidopa hydrate
(S)-(−)-carbidopa
(S)-alpha--Hydrazino-3,4-dihydroxy-alpha--methyl-benzenepropanoic acid monohydrate
(S)-carbidopa
(S)-carbidopa hydrate
(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid
(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid monohydrate
(αS)-α-hydrazino-3,4-dihydroxy-α-methylbenzenepropanoic acid
27925-91-3
28860-95-9
31823-41-3
38821-49-7
AC-1676
AC1L1RFR
AC1L1Z32
AC1Q5QGW
Atamet
BB_SC-5095
Benzenepropanoic acid, alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate, (S)
C-126
C-DOPA
C126_SIGMA
C1335_SIGMA
CCRIS 5093
CHEBI:3395
CHEBI:39585
CHEMBL1200748
CHEMBL1201236
CID34359
CID38101
CPD-11550
Carbidopa (anhydrous)
Carbidopa Anhydrous
Carbidopa Monohydrate
Carbidopa [USAN:INN:BAN]
Carbidopa anhydrous
Carbidopa hydrate
Carbidopa, (S)-Isomer
Carbidopa, Entacapone, & Levodopa
Carbidopa-1-wasser
 
Carbidopum
Carbidopum [INN-Latin]
DB00190
EINECS 249-271-9
EU-0100382
HMS2089B12
Hadrazino-alpha-methyldopa
Hydrocinnamic acid, (-)-L-alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate
KINSON, 3-(3,4-DIHYDROXY-PHENYL)-2-HYDRAZINO-2-METHYL-PROPIONIC ACID
L-3-(3,4-Dihydroxyphenyl)-2-methyl-2-hydrazinopropionic acid
L-3-(3,4-dihydroxyphenyl)-2-methyl-2-hydrazinopropionic acid
L-alpha-(3,4-dihydroxybenzyl)-alpha-hydrazinopropionic acid monohydrate
L-alpha-Methyl-alpha-hydrazino-beta-(3,4-dihydroxyphenylpropionic acid
L-alpha-Methyl-beta-(3,4-dihydroxyphenyl)-alpha-hydrazinopropionic acid
L-alpha-Methyldopahydrazine
L-α-methyldopahydrazine
LS-77199
Lodosin
Lodosyn
Lodosyn, Carbidopa
Lopac0_000382
MK 486
MK-485
MK-486
MLS000069628
MLS002207014
Methyldopahydrazine
MolPort-003-940-629
MolPort-005-934-181
N-Aminomethyldopa
NCGC00024596-01
NCGC00024596-03
NCGC00024596-05
NCGC00024596-06
S(-)-CARBIDOPA
S(-)-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate
S-(-)-Carbidopa
S-(-)-alpha-Hydrazino-3,4-dihydroxy-2-methylbenzenepropanoic acid
S1891_Selleck
SMP1_000057
SMR000058235
ST055523
Stalevo
Tocris-0455
UNII-KR87B45RGH
UNII-MNX7R8C5VO
alpha-Hydrazino-alpha-methyl-beta-(3,4-dihydroxyphenyl)propionic acid
alpha-Methyldopahydrazine
carbidopa
carbidopum monohydricum
5
BudesonideapprovedPhase 442251333-22-363006, 5281004
Synonyms:
(11-beta,16-alpha)-16,17-(Butylidenebis(oxy))-11,21-dihydroxypregna-1,4-diene-3,20-dione
(11beta,16alpha)-16,17-(Butylidenebis(oxy))-11,21-dihydroxypregna-1,4-diene-3,20-dione
(4aR,4bS,5S,6aS,6bS,8R,9aR,10aS,10bS)-5-hydroxy-6b-(hydroxyacetyl)-4a,6a-dimethyl-8-propyl-4a,4b,5,6,6a,6b,9a,10,10a,10b,11,12-dodecahydro-2H-naphtho[2',1':4,5]indeno[1,2-d][1,3]dioxol-2-one
(4aR,4bS,5S,6aS,6bS,9aR,10aS,10bS)-5-hydroxy-6b-(hydroxyacetyl)-4a,6a-dimethyl-8-propyl-4a,4b,5,6,6a,6b,9a,10,10a,10b,11,12-dodecahydro-2H-naphtho[2',1':4,5]indeno[1,2-d][1,3]dioxol-2-one
(R,S)-11b,16a,17,21,tetrahydroxypregna-1,4-diene-3,20-dione cyclic 16,17-acetal with buty raldehyde
(RS)-(11beta,16alpha)-16,17-[Butylidenebis(oxy)]-11,21-dihydroxypregna-1,4-diene-3,20-dione
(RS)-11beta,16alpha,17,21-Tetrahydroxypregna-1,4-diene-3,20-dione cyclic 16,17-acetal with butyraldehyde
(S)-16alpha,17-(Butylidenedioxy)-11beta,21-dihydroxypregna-1,4-diene-3,20-dione
11beta,21-dihydroxy-16alpha,17alpha-(butane-1,1-diyldioxy)pregna-1,4-diene-3,20-dione
16,17-Butylidenebis(oxy)-11,21-dihydroxypregna-1,4-diene-3,20-dione
16,17-Butylidenebis(oxy)-11-,21-dihydroxypregna-1,4-diene-3,20-dione
16-alpha,17-alpha-Butylidenedioxy-11-beta,21-dihydroxy-1,4-pregnadiene-3,20-dione
16alpha(R),17-(Butylidenebis(oxy))-11beta,21-dihydroxypregna-1,4-diene-3,20-dione
16alpha-,17alpha--butylidenedioxypregna-1,4-diene-11beta-,21-diol-3,20-dione
51333-22-3
AC-4697
AC1L1DQE
AC1L1Y6Y
AC1L22VC
AC1MHWI7
B 7777
B7777_SIGMA
BPBio1_000523
BRD-A34299591-001-03-4
BRD-A82238138-001-01-7
BSPBio_000475
BSPBio_002160
Bidien
Bio-0010
Budecort Inhaler
Budenofalk
Budeson
Budesonide (JAN/USAN/INN)
Budesonide Easyhaler
Budesonide MMX
Budesonide [USAN:INN:BAN:JAN]
Budesonido
Budesonido [INN-Spanish]
Budesonidum
Budesonidum [INN-Latin]
Budiair
Budicort
C25H34O6
CCRIS 5230
CHEBI:3207
CHEBI:656601
CHEMBL1370
CID2462
CID3033890
CID40000
CID5281004
CID63006
CPD000058337
Cortivent
D00246
DB01222
Desowen
Dexbudesonide
Dexbudesonide [INN]
DivK1c_000475
EINECS 257-139-7
EINECS 257-160-1
EINECS 257-161-7
EU-0100174
Entocort
Entocort EC
Entocort EC (TN)
Giona Easyhaler
HMS1569H17
HMS1921I22
HMS2094I13
HMS501H17
Horacort
 
IDI1_000475
Inflammide
KBio1_000475
KBio3_001660
KBioGR_001361
LS-187734
LS-7235
Lopac0_000174
MAP-0010
MLS000028507
MLS001077323
MLS002207112
Micronyl
Miflonide
MolPort-002-529-265
MolPort-003-666-332
MolPort-003-986-909
NCGC00015165-03
NCGC00021318-03
NCGC00021318-06
NCGC00089747-02
NCGC00089747-03
NCGC00089747-04
NCGC00178789-01
NINDS_000475
Noex
Preferid
Pregna-1,4-diene-3,20-dione, 16,17-butylidenebis(oxy)-11,21-dihydroxy-, (11beta,16alpha(R))-, and 16alpha,17-((S)-Butylidenebis(oxy))-11beta,21-dihydroxypregna-1,4-diene-3,20-dione
Prestwick0_000518
Prestwick1_000518
Prestwick2_000518
Prestwick3_000518
Prestwick_840
Pulmaxan
Pulmaxan turbohaler
Pulmicort
Pulmicort (TN)
Pulmicort Flexhaler
Pulmicort Nebuamp
Pulmicort Respules
Pulmicort Topinasal
Pulmicort Turbuhaler
Pulmicort turbuhaler
Respules
Rhinocort
Rhinocort Aqua
Rhinocort Turbuhaler
Rhinocort alpha
Rhinocort, Pulmicort , Entocort, Symbicort, Noex. Entocort EC, Budesonide
Rhinosol
S 1320
S-1320
S1286_Selleck
SAM002699898
SMR000058337
SPBio_000586
SPBio_002396
SPECTRUM1500813
ST51039033
Spectrum2_000623
Spectrum3_000620
Spectrum4_000821
Spectrum5_001738
Spirocort
TL8003397
Tridesilon
UDB
UNII-168L5HT37P
UNII-2HI1006KPH
UNII-Q3OKS62Q6X
Unit dose budesonide
ZINC03938751
ZINC04097286
budesonide
6
Entacaponeapproved, investigationalPhase 451130929-57-65281081
Synonyms:
(2E)-2-cyano-3-(3,4-dihydroxy-5-nitrophenyl)-N,N-diethylprop-2-enamide
(E)-2-Cyano-3-(3,4-dihydroxy-5-nitrophenyl)-N,N-diethyl-2-propenamide
(E)-2-cyano-3-(3,4-dihydroxy-5-nitro-phenyl)-N,N-diethyl-prop-2-enamide
(E)-2-cyano-3-(3,4-dihydroxy-5-nitrophenyl)-N,N-diethylprop-2-enamide
(E)-alpha-Cyano-N,N-diethyl-3,4-dihydroxy-5-nitrocinnamamide
(e)-alpha-Cyano-N,N-diethyl-3,4-dihydroxy-5-nitrocinnamamide
116314-67-1
130929-57-6
2-Cyano-N,N-diethyl-3-(3,4-dihydroxy-5-nitrophenyl)propenamide
AC-393
AC1NQY02
BIDD:GT0026
C071192
C07943
C14H15N3O5
CHEBI:4798
CHEMBL953
CID5281081
COM-998
Comtan
Comtan (TN)
Comtess
D00781
 
DB00494
ENTACAPONE
Entacapona
Entacapona [INN-Spanish]
Entacapone
Entacapone (JAN/USAN/INN)
Entacapone [USAN:INN]
Entacapone [Usan:Inn]
Entacaponum
Entacaponum [INN-Latin]
HMS2089O16
KB475572
LS-123327
LS-172316
MolPort-003-847-054
N,N-Diethyl-2-cyano-3-(3,4-dihydroxy-5-nitrophenyl) acrylamide
N,N-diethyl-2-cyano-3-(3,4-dihydroxy-5-nitrophenyl) acrylamide
NCGC00164555-01
Novartis brand of entacapone
OR 611
OR-611
Orion brand of entacapone
UNII-4975G9NM6T
entacapone
7
NorepinephrineapprovedPhase 468351-41-2439260
Synonyms:
(-)-(R)-Norepinephrine
(-)-Arterenol
(-)-Arterenol free base
(-)-NORADRENALINE
(-)-Noradrenaline
(-)-Norepinephrine
(-)-alpha-(Aminomethyl)protocatechuyl alcohol
(R)-(-)-Norepinephrine
(R)-4-(2-Amino-1-hydroxyethyl)-1,2-benzenediol
(R)-4-(2-amino-1-Hydroxyethyl)-1,2-benzenediol
(R)-Noradrenaline
(R)-Norepinephrine
1,2-Benzenediol, 4-(2-amino-1-hydroxyethyl)-, (R)- (9CI)
4-(2-Amino-1-hydroxyethyl)-1,2-benzenediol
4-[(1R)-2-Amino-1-hydroxyethyl]-1,2-benzenediol
4-[(1R)-2-amino-1-hydroxyethyl]benzene-1,2-diol
4899-05-2
51-40-1 (l-tartrate (1:1))
51-41-2
66197-73-7
A7257_SIGMA
AC1L96ZT
ALBB-006229
Adrenor
Aktamin
Arterenol
BRN 4231961
BSPBio_002079
C00547
CHEBI:18357
CHEMBL1437
CID439260
D-(-)-Noradrenaline
D00076
D53D5E3A-2360-4CA9-8031-6C2CD4062FD5
DB00368
DivK1c_000230
EINECS 200-096-6
HMS1920B08
HMS2089E18
HMS2091J08
HMS500L12
IDI1_000230
KBio1_000230
KBio2_001489
KBio2_004057
KBio2_006625
KBio3_001579
KBioGR_000635
KBioSS_001489
L-2-Amino-1-(3,4-dihydroxyphenyl)ethanol
L-3,4-Dihydroxyphenylethanolamine
L-3,4-dihydroxyphenylethanolamine
L-Arterenol
L-Noradrenaline
L-Norepinephrine
L-alpha-(Aminomethyl)-3,4-dihydroxybenzyl alcohol
L-alpha-(aminomethyl)-3,4-dihydroxybenzyl alcohol
L-arterenol
L-noradrenaline
LS-42676
LT03330026
 
LT4
Levarterenol
Levarterenolo
Levarterenolo [DCIT]
Levoarterenol
Levonor
Levonoradrenaline
Levonorepinephrine
Levophed
NCGC00159406-02
NCGC00159406-03
NCGC00159406-04
NCGC00159406-05
NCGC00159406-06
NCGC00159406-07
NCGC00159406-09
NINDS_000230
Nor adrenalin
Nor adrenalin (TN)
Nor-Epirenan
Nor-adrenaline
Noradrenalin
Noradrenalina
Noradrenalina [Italian]
Noradrenaline
Noradrenaline (JP15)
Noradrenalinum
Norartrinal
Noreinefrina
Noreinefrina [INN-Spanish]
Norepinefrina
Norepinephrine
Norepinephrine (INN)
Norepinephrine Noradrenalin
Norepinephrine [INN:JAN]
Norepinephrine l-Tartrate (1:1)
Norepinephrinum
Norepinephrinum [INN-Latin]
Norepirenamine
PDSP1_001111
PDSP2_001095
SGCUT00123
SPBio_001048
SPECTRUM1500436
STK503776
Spectrum2_001064
Spectrum3_000520
Spectrum4_000078
Spectrum5_001068
Spectrum_001009
Sympathin E
UNII-X4W3ENH1CV
bmse000404
l-1-(3,4-Dihydroxyphenyl)-2-aminoethanol
l-2-Amino-1-(3,4-dihydroxyphenyl)ethanol
nchembio.284-comp2
nchembio.64-comp2
nchembio705-1
noradrenaline
norepinefrina
norepinephrine
norepinephrinum
to_000024
8
Treprostinilapproved, investigationalPhase 4, Phase 2, Phase 38581846-19-754786, 6918140
Synonyms:
((1R,2R,3aS,9aS)-2-hydroxy-1-((3S)-3-hydroxyoctyl)-2,3,3a,4,9,9a-hexahydro-1H-cylopent(b)naphthalen-5-yl)oxy)acetate
(1R,2R,3aS,9aS)-[[2,3,3a,4,9,9a-hexahydro-2-hydroxy- 1-[(3S)-3-hydroxyoctyl]-1H-benz[f]inden-5-yl] oxy]acetic acid
({(1R,2R,3aS,9aS)-2-hydroxy-1-[(3S)-3-hydroxyoctyl]-2,3,3a,4,9,9a-hexahydro-1H-cyclopenta[b]naphthalen-5-yl}oxy)acetic acid
15 AU81
15AU81
2-[[(1R,2R,3aS,9aS)-2-hydroxy-1-[(3S)-3-hydroxyoctyl]-2,3,3a,4,9,9a-hexahydro-1H-cyclopenta[g]naphthalen-5-yl]oxy]acetic acid
2-[[(1S,2S,3aR,9aR)-2-hydroxy-1-[(3R)-3-hydroxyoctyl]-2,3,3a,4,9,9a-hexahydro-1H-cyclopenta[g]naphthalen-5-yl]oxy]acetic acid
289480-64-4 (Sodium salt)
81846-19-7
AC1L1HPX
AC1OCF2J
CHEBI:50861
CID11246284
CID54786
CID6918140
CID9800580
D06213
DB00374
L001079
 
LRX 15
LS-177654
LS-187014
LS-187645
Remodulin (TN)
Treprostinil
Treprostinil (USAN/INN)
Treprostinil [USAN:INN]
Treprostinil sodium
Treprostinilo
Treprostinilum
U 62840
U-62,840
UNII-RUM6K67ESG
UT-15
Uniprost
Viveta
[[(1R,2R,3aS,9aS)-2-Hydroxy-1-[(3S)-3-hydroxyoctyl]-2,3,3a,4,9,9a-hexahydro-1H-cyclopenta[b]naphtalen-5-yl]oxy]acetic acid
treprostinilo
treprostinilum
9
OseltamivirapprovedPhase 4101204255-11-8, 196618-13-065028
Synonyms:
(-)-oseltamivir
(3R,4R,5S)-4-Acetylamino-5-amino-3-(1-ethyl-propoxy)-cyclohex-1-enecarboxylic acid
(3R,4R,5S)-4-acetamido-5-amino-3-(pentan-3-yloxy)cyclohex-1-enecarboxylic acid
(−)-oseltamivir
196618-13-0
204255-11-8
4-Acetylamino-5-amino-3-(1-ethyl-propoxy)-cyclohex-1-enecarboxylic acid
AC1L22FK
AC1Q63H0
Agucort
Agucort (TN)
BIDD:GT0426
BRD-K76011241-045-01-5
C08092
CHEBI:7798
CHEMBL1229
CID65028
D08306
DB00198
Ethyl (3R,4R,5S)-4-acetamido-5-amino-3-(1-ethylpropoxy)-1-cyclohexene-1-carboxylate
Ethyl (5S,3R,4R)-4-(acetylamino)-5-amino-3-(ethylpropoxy)cyclohex-1-enecarboxylate
FT-0082384
 
GS 4104
GS-4104
GS4104
HMS2090C11
HSDB 7433
LS-57422
MolPort-005-933-026
NCGC00178698-01
Oseltamivir
Oseltamivir (INN)
Oseltamivir [INN:BAN]
Oseltamivir phosphate
Oseltamivirum
Ro-64-0796
Ro-640796
Tamiflu (*Phosphate salt 1:1*)
Tamiflu-Free
Tamvir
UNII-20O93L6F9H
ethyl (3R,4R,5S)-4-acetamido-5-amino-3-(pentan-3-yloxy)cyclohex-1-ene-1-carboxylate
ethyl (3R,4R,5S)-4-acetamido-5-amino-3-pentan-3-yloxycyclohexene-1-carboxylate
oseltamivir
oseltamivirum
oséltamivir
10
Calcium carbonateapprovedPhase 4208471-34-1
Synonyms:
CaCO3
Calcium carbonate
Calcium carbonate (1:1)
Calciumcarbonat
Carbonate de calcium
 
Carbonato de calcio
Carbonic acid calcium salt (1:1)
E 170
Kalziumkarbonat
Kohlensaurer kalk
Precipitated calcium carbonate
11HormonesPhase 4, Phase 2, Phase 1, Early Phase 113979
12Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 2, Phase 1, Early Phase 112767
13Hormone AntagonistsPhase 4, Phase 2, Phase 1, Early Phase 112778
14Peripheral Nervous System AgentsPhase 4, Phase 3, Phase 1, Phase 222776
15glucocorticoidsPhase 4, Phase 14920
16Anti-Infective AgentsPhase 4, Phase 3, Phase 2, Phase 121402
17Respiratory System AgentsPhase 4, Phase 2, Phase 34818
18Antidepressive AgentsPhase 4, Phase 22666
19Psychotropic DrugsPhase 4, Phase 3, Phase 2, Phase 16279
20
SerotoninPhase 4, Phase 2356650-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
21Formoterol FumaratePhase 4424
22Neurotransmitter Uptake InhibitorsPhase 4, Phase 23464
23Calcium, DietaryPhase 4, Phase 35525
24Antihypertensive AgentsPhase 4, Phase 3, Phase 24095
25AnalgesicsPhase 4, Phase 311287
26Autonomic AgentsPhase 4, Phase 3, Phase 2, Phase 19774
27AntacidsPhase 4, Phase 31767
28Anti-Ulcer AgentsPhase 4, Phase 31767
29Gastrointestinal AgentsPhase 4, Phase 3, Phase 18109
30Neurotransmitter AgentsPhase 4, Phase 3, Phase 2, Phase 117734
31Dopamine AgentsPhase 4, Phase 33759
32Aromatic Amino Acid Decarboxylase InhibitorsPhase 4148
33Antiparkinson AgentsPhase 4, Phase 3, Phase 21527
34Catechol O-Methyltransferase InhibitorsPhase 492
35
Proton pump inhibitorsPhase 4, Phase 31080
Synonyms:
 
PPIs
36Adrenergic AgentsPhase 4, Phase 25140
37Anti-Inflammatory AgentsPhase 4, Phase 3, Phase 110355
38Antiviral AgentsPhase 4, Phase 3, Phase 29732
39Bronchodilator AgentsPhase 42856
40Anti-Asthmatic AgentsPhase 4, Phase 2, Phase 33369
41Adrenergic beta-AgonistsPhase 41640
42Adrenergic AgonistsPhase 42877
43Adrenergic beta-2 Receptor AgonistsPhase 4925
44Budesonide, Formoterol Fumarate Drug CombinationPhase 4166
45Duloxetine HydrochloridePhase 4264
46Serotonin and Noradrenaline Reuptake InhibitorsPhase 4450
47CatecholNutraceuticalPhase 4103
48CalamusNutraceuticalPhase 4419
49
GliclazideapprovedPhase 35721187-98-43475
Synonyms:
1-(3,3a,4,5,6,6a-hexahydro-1H-cyclopenta[c]pyrrol-2-yl)-3-(4-methylphenyl)sulfonylurea
1-(3-Azabicyclo(3.3.0)oct-3-yl)-3-(p-tolylsulfonyl)urea
1-(3-Azabicyclo[3.3.0]oct-3-yl)-3-p-tolylsulphonylurea
1-(Hexahydrocyclopenta(c)pyrrol-2(1H)-yl)-3-(p-tolylsulfonyl)urea
21187-98-4
AB00053165
AB1004595
AC-12045
AC1L1G0Q
AKOS003237903
BPBio1_000699
BRD-A61154809-001-04-3
BRN 1657836
BSPBio_000635
BSPBio_003304
Bio-0502
C15H21N3O3S
CHEBI:31654
CHEMBL427216
CID3475
D01599
DB01120
Diaikron
Diamicron
Diamicron MR
DivK1c_006966
EINECS 244-260-5
G2167_SIGMA
Gliclazida
Gliclazida [INN-Spanish]
Gliclazide (JAN/INN)
Gliclazide [BAN:INN:DCF:JAN]
Gliclazidum
Gliclazidum [INN-Latin]
Gliklazid
Glimicron
Glimicron (TN)
Glyclazide
HMS1569P17
HMS1922D15
HMS2090K16
I06-0117
KBio1_001910
 
KBio2_001958
KBio2_004526
KBio2_007094
KBio3_002806
KBioGR_001096
KBioSS_001958
LS-160299
MLS001215197
MLS001304077
MLS001304118
MolPort-002-507-779
Mylan-Gliclazide
N-(4-Methylbenzenesulfonyl)-N'-(3-azabicyclo(3.3.0)oct-3-yl)urea
N-(hexahydrocyclopenta[c]pyrrol-2(1H)-ylcarbamoyl)-4-methylbenzenesulfonamide
N-[(hexahydrocyclopenta[c]pyrrol-2(1H)-ylamino)carbonyl]-4-methylbenzenesulfonamide
NCGC00095107-01
NCGC00095107-02
NCGC00095107-03
NCGC00095107-04
NCGC00095107-05
NCGC00095107-06
Nordialex
PMS-Gliclazide
Prestwick0_000558
Prestwick1_000558
Prestwick2_000558
Prestwick3_000558
Prestwick_869
S 1702
S 852
S-1702
S-852
SE 1702
SMR000542971
SPBio_002556
SPECTRUM1504145
SPECTRUM1505013
STK803142
SpecPlus_000870
Spectrum3_001862
Spectrum4_000598
Spectrum5_000753
Spectrum_001478
gliclazide
50
Esomeprazoleapproved, investigationalPhase 3324161796-78-7, 119141-88-74594, 9579578
Synonyms:
( -)-Omeprazole
(-)-Omeprazole
(-)-omeprazole
(S)-(-)-Omeprazole
(S)-(−)-omeprazole
(S)-Omeprazole
(S)-omeprazole
(s)-omeprazole
(−)-omeprazole
119141-88-7
119141-89-8
131959-78-9
172964-80-6
193469-77-1
2-(((3,5-Dimethyl-4-methoxy-2-pyridyl)methyl)sulfinyl)-5-methoxy-1H-benzimidazole
2-({[3,5-dimethyl-4-(methyloxy)pyridin-2-yl]methyl}sulfinyl)-5-(methyloxy)-1H-benzimidazole
326602-80-6
5-Methoxy-2-(((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-((S)-((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-[[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-1H-benzimidazole
5-Methoxy-2[(4-methoxy-3,5-dimethyl-2-pyridyl)methylsulfinyl]-1H-benzimidazole
5-methoxy-2-{(S)-[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1-methyl-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-methoxy-2-[(4-methoxy-3,5-dimethylpyridin-2-yl)methylsulfinyl]-1H-benzimidazole
6-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
73590-58-6
AC-401
AC1L1IIJ
AGI-010
AKOS005066653
AULCER
Antra
Antra MUPS
Audazol
Axagon
BIDD:GT0020
BIDD:GT0189
BPBio1_000425
BRD-A55962179-001-04-9
BSPBio_000385
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:50275
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CID9568614
CID9579578
CPD000058847
Ceprandal
D00455
D07917
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Erbolin
Esomeprazol
Esomeprazole
Esomeprazole (INN)
Esomeprazole Sodium
Esomeprazole [INN:BAN]
Esomeprazolum
Esomperazole
Esopral
Exter
Gasec
Gastrimut
Gastroloc
Gibancer
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
I06-0705
IDI1_032523
InChI=1/C17H19N3O3S/c1-10-8-18-15(11(2)16(10)23-4)9-24(21)17-19-13-6-5-12(22-3)7-14(13)20-17/h5-8H,9H2,1-4H3,(H,19,20
Indurgan
Inexium paranova
Inexium paranova (TN)
Inhibitron
Inhipump
LS-185188
LS-7629
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Mepral
 
Miol
Miracid
MolPort-003-666-741
MolPort-003-807-515
MolPort-003-849-702
MolPort-005-943-880
Mopral
Morecon
NCGC00016925-01
NCGC00016925-02
NCGC00021522-03
NCGC00021522-04
NCGC00021522-05
Nexiam
Nexium
Nexium Control
Nexium IV
Nilsec
Nopramin
Nuclosina
O0359
O104_SIGMA
OMEP
OMZ
Ocid
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole (JAN/USP/INN)
Omeprazole S-form
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Perprazole
Prazentol
Prazidec
Prazolit
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
TL8005099
Tedec Ulceral
UNII-KG60484QX9
UNII-N3PA6559FT
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
ZINC04693574
ZINC04693575
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
esomeprazole
esomeprazolum
omeprazole
Ésoméprazole

Interventional clinical trials:

(show top 50)    (show all 119)
idNameStatusNCT IDPhase
1Stalevo in Early Wearing-Off PatientsCompletedNCT00125567Phase 4
2Determination of a Questionnaire After Treatment With Pantoprazole at Full Dose and Half Dose in Adult Patients With Symptoms of Acid Reflux (Gastroesophageal Reflux Disease) (BY1023/UK-506)CompletedNCT00261339Phase 4
3Study to Evaluate the Mastery of Inhaler Technique for Budesonide Formoterol (BF) SPIROMAX® as Compared to SYMBICORT® TURBOHALER® as Treatment for Adult Patients With AsthmaCompletedNCT02062463Phase 4
4Longitudinal Surveillance Registry (LSR) of ACUITY SpiralRecruitingNCT00955708Phase 4
5Surgical Application of Vac Dressings In Obese Patients to Reduce Wound ComplicationsRecruitingNCT02461433Phase 4
6The Use of Duloxetine for Cognition Improvement in Individuals With Mild Cognitive ImpairmentRecruitingNCT02590874Phase 4
7Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)RecruitingNCT00214773Phase 4
8Safety, Tolerability, Pharmacokinetics and Efficacy of Two Different Rates of Subcutanous Remodulin® Dose Titration in Pulmonary Arterial HypertensionNot yet recruitingNCT02893995Phase 4
9An Open Label Extension Study to Evaluate the Safety of Continued Therapy of Subcutanous Remodulin® in Pulmonary Arterial HypertensionNot yet recruitingNCT02882126Phase 4
10A Trial of Oseltamivir in High-Risk Patients Presenting to the Emergency Department With InfluenzaNot yet recruitingNCT02561169Phase 4
11Trial of SAVVY and HIV in GhanaUnknown statusNCT00129532Phase 3
12Evaluation of the Active Living Every Day Exercise Program for People With ArthritisCompletedNCT00146367Phase 2, Phase 3
13Evaluation of Walk With Ease in ArthritisCompletedNCT00526435Phase 3
14Health Benefits of an Exercise Program for Adults With ArthritisCompletedNCT00146393Phase 2, Phase 3
15A Study to Assess the Efficacy and Safety of Enteric-Coated Acetylsalicylic Acid in Patients at Moderate Risk of Cardiovascular DiseaseCompletedNCT00501059Phase 3
16Determine Long-Term Safety and Tolerability of Pregabalin in Patients With Anxiety Disorders.CompletedNCT00150449Phase 3
17A Study to Evaluate the Safety and Immunogenicity of 4 Doses of MenACWY Conjugate Vaccine, Administered Concomitantly With Routine Vaccines, Among Infants Aged 2 MonthsCompletedNCT01000311Phase 3
18Does Tension-Free Herniorrhaphy or Laparoscopic Herniorrhaphy Achieve Equal or Better Recurrence Rates and Lower Costs While Achieving Equivalent Outcomes for Hernia Patients?CompletedNCT00032448Phase 3
19Esomeprazole for Prevention of Upper Gastrointestinal Symptoms Associated With Continuous Use of NSAIDsCompletedNCT00241553Phase 3
20Esomeprazole for Relief of Upper Gastrointestinal Symptoms Associated With Continuous Use of NSAIDsCompletedNCT00241527Phase 3
21RECORD: Rosiglitazone Evaluated for Cardiac Outcomes and Regulation of Glycaemia in DiabetesCompletedNCT00379769Phase 3
22Open Label Study Assessing Effectiveness Of Amlodipine/Atorvastatin In Subjects With Hypertension and DyslipidaemiaCompletedNCT00330785Phase 3
23National Multiple Sclerosis Society (NMSS) Pilot Study of Transcranial Direct Current Stimulation (tDCS)RecruitingNCT02746705Phase 3
24Twelve Month Safety and Efficacy Study of CVT-301 In Parkinson's Disease Patients With OFF EpisodesRecruitingNCT02242487Phase 3
25Comparison of Axillary Lymph Node Dissection With Axillary Radiation for Patients With Node-Positive Breast Cancer Treated With ChemotherapyRecruitingNCT01901094Phase 3
26Study of the Steroid Sparing Effect of Xolair (Omalizumab) in Patients With Persistent Eosinophilic BronchitisRecruitingNCT02049294Phase 2, Phase 3
27Efficacy, Safety and Tolerability Study of APL-130277 for the Acute Treatment of OFF Episodes in Patients With Parkinson's DiseaseRecruitingNCT02469090Phase 3
28An Open-Label Phase 3 Study to Examine the Long-Term Safety, Tolerability and Efficacy of APL-130277 for the Acute Treatment of "OFF" Episodes in Patients With Parkinson's DiseaseRecruitingNCT02542696Phase 3
29Safety and Efficacy of Inhaled Treprostinil in Adult PH With ILD Including CPFERecruitingNCT02630316Phase 2, Phase 3
30MRI and Mammography Before Surgery in Patients With Stage I-II Breast CancerRecruitingNCT01805076Phase 3
31A Study of ALKS 8700 in Adults With Relapsing Remitting Multiple Sclerosis (MS) (the EVOLVE-MS Study)RecruitingNCT02634307Phase 3
32Clinical Study to Evaluate the Effectiveness, Safety, and Tolerability of Oxymorphone Immediate Release (IR) Oral Liquid in Post Surgical Pediatric SubjectsRecruitingNCT02687451Phase 3
33Avelumab in Third-Line Gastric Cancer (JAVELIN Gastric 300)RecruitingNCT02625623Phase 3
34Avelumab in First-line Non-Small Cell Lung Cancer (JAVELIN Lung 100)RecruitingNCT02576574Phase 3
35Clinical Evaluation of the Lenstec SBL-3 Multifocal Intraocular LensRecruitingNCT02487160Phase 2, Phase 3
36Study of SRP-4045 and SRP-4053 in DMD PatientsRecruitingNCT02500381Phase 3
37Confirmatory Study of Eteplirsen in DMD PatientsRecruitingNCT02255552Phase 3
38A Study of PF-06438179 (Infliximab-Pfizer) and Infliximab in Combination With Methotrexate in Subjects With Active Rheumatoid Arthritis (REFLECTIONS B537-02).Active, not recruitingNCT02222493Phase 3
39Open-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
40Prevention of Cardiovascular Complications in Diabetic Patients With Vitamin E TreatmentTerminatedNCT00220831Phase 2, Phase 3
41Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS)TerminatedNCT00211224Phase 3
42Safety and Efficacy Study of EPI-743 in Children With Leigh SyndromeCompletedNCT01721733Phase 2
43Atomoxetine and Huntington's DiseaseCompletedNCT00368849Phase 2
44A Study to Evaluate ALKS 5461 in Subjects With Major Depressive Disorder (MDD)CompletedNCT01500200Phase 2
45ALK33BUP-201: Safety and Tolerability Study of ALKS 33-BUP (ALKS 5461) Administration in Subjects With MDDCompletedNCT01381107Phase 1, Phase 2
46Citalopram to Enhance Cognition in HDCompletedNCT00271596Phase 2
47A Study To Investigate The Safety And Possible Clinical Benefit Of Multistem(r) In Patients With Moderate To Severe Ulcerative ColitisCompletedNCT01240915Phase 2
48DN24-02 as Adjuvant Therapy in Subjects With High Risk HER2+ Urothelial CarcinomaCompletedNCT01353222Phase 2
49A Phase II Multi-centre, Extension Study to Investigate the Long Term Safety of ONO-2506PO in Patients Diagnosed With Amyotrophic Lateral Sclerosis (ALS)CompletedNCT00694941Phase 2
50Study of Tenofovir Disoproxil Fumarate (TDF) for Prevention of HIVCompletedNCT00122486Phase 2

Search NIH Clinical Center for Leigh Syndrome


Cochrane evidence based reviews: leigh disease

Genetic Tests for Leigh Syndrome

About this section

Genetic tests related to Leigh Syndrome:

id Genetic test Affiliating Genes
1 Leigh Syndrome (nuclear Dna Mutation)27 24 BCS1L, COX10, DLD, FOXRED1, MTFMT, NDUFA1, NDUFA10, NDUFAF2, NDUFAF6, NDUFS1 (show all 19)

NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, SCO1, SCO2, SDHA, SURF1

2 Leigh Syndrome27
3 Leigh Syndrome Due to Mitochondrial Complex Ii Deficiency27
4 Leigh Syndrome Due to Mitochondrial Complex I Deficiency27 24 NDUFA12, NDUFA2, NDUFA9
5 Leigh Syndrome (mtdna Mutation)27 24
6 Leigh Syndrome Due to Mitochondrial Complex Iii Deficiency27
7 Leigh Syndrome (mtdna Deletion)24

Anatomical Context for Leigh Syndrome

About this section

MalaCards organs/tissues related to Leigh Syndrome:

36
Kidney, Spinal cord, Thalamus, Cerebellum, Heart, Eye, Lung

Publications for Leigh Syndrome

About this section

Articles related to Leigh Syndrome:

(show top 50)    (show all 187)
idTitleAuthorsYear
1
Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome. (27761019)
2017
2
Do lesional perfusion abnormalities on arterial spin labeling truly contribute to the diagnosis of Leigh syndrome? (27826676)
2017
3
Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation. (27408822)
2016
4
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome. (27986404)
2016
5
Ophthalmologic involvement in Leigh syndrome. (27226419)
2016
6
Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. (27756633)
2016
7
Spasticity secondary to Leigh syndrome managed with selective dorsal rhizotomy: a case report. (27041374)
2016
8
Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up. (26893257)
2016
9
Significance of rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T>G mutation. (27206685)
2016
10
The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome. (27080638)
2016
11
Leigh syndrome associated with a novel mutation in the COX15 gene. (26959537)
2016
12
Affection of the frontal lobe in Leigh syndrome due to the m.8993T>G mutation. (27209570)
2016
13
Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options. (26725255)
2016
14
The neuroimaging of Leigh syndrome: case series and review of the literature. (26739140)
2016
15
Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome. (27074294)
2016
16
DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. (27301544)
2016
17
Respiratory chain inhibition: one more feature to propose MPTP intoxication as a Leigh syndrome model. (27787743)
2016
18
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. (26657515)
2016
19
Response to letter to the editor: Why does Leigh syndrome responds to immunotherapy? (27547733)
2016
20
Ophthalmologic involvement in Leigh syndrome. (27234010)
2016
21
Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome. (27574709)
2016
22
FDG-PET study of patients with Leigh syndrome. (26944169)
2016
23
Rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T>G mutation. (27000225)
2016
24
Ndufs4 related Leigh syndrome: A case report and review of the literature. (27079373)
2016
25
Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene. (27346203)
2016
26
Transient symmetric T2-hyperintensities of basal ganglia and brainstem not only point to Leigh syndrome. (27570408)
2016
27
Generation of a human iPSC line from a patient with Leigh syndrome. (27345786)
2016
28
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. (27344648)
2016
29
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome. (27390132)
2016
30
Mild clinical manifestation and unusual recovery upon coenzyme Qa88a88 treatment in the first Chinese Leigh syndrome pedigree with mutation m.10197 G>A. (25384404)
2015
31
Leigh Syndrome: One disorder, more than 75 monogenic causes. (26506407)
2015
32
Impact commentaries. Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome). (25587071)
2015
33
Leigh syndrome: neuropathology and pathogenesis. (25978847)
2015
34
Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. (25995486)
2015
35
A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome. (26524491)
2015
36
ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. (25393721)
2015
37
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. (25807530)
2015
38
Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia. (25681084)
2015
39
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism. (25591832)
2015
40
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. (27858754)
2015
41
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. (26099313)
2015
42
Mitochondrial vulnerability and increased susceptibility to nutrient-induced cytotoxicity in fibroblasts from leigh syndrome French canadian patients. (25835550)
2015
43
Ophthalmological manifestations in patients with Leigh syndrome. (25351680)
2015
44
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. (26008862)
2015
45
A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome. (26565911)
2015
46
Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome. (25214534)
2015
47
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. (26016410)
2015
48
Succination is increased on select proteins in the brainstem of the Ndufs4 knockout mouse, a model of Leigh syndrome. (26450614)
2015
49
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. (24462369)
2014
50
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. (25130867)
2014

Variations for Leigh Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Leigh Syndrome:

70 (show all 32)
id Symbol AA change Variation ID SNP ID
1COX15p.Arg217TrpVAR_019596rs28939711
2COX15p.Ser344ProVAR_033117rs397514662
3MT-ATP6p.Leu156ArgVAR_000793rs199476133
4MT-ATP6p.Leu156ProVAR_000794rs199476133
5MT-ATP6p.Leu217ProVAR_000797rs199476135
6MT-ATP6p.Leu220ProVAR_073700rs199476138
7MT-ND3p.Ala47ThrVAR_035092rs267606891
8MT-ND5p.Phe124LeuVAR_035424rs267606893
9MT-ND5p.Ser250CysVAR_035429rs267606896
10NARS2p.Asn381SerVAR_073724
11NDUFAF5p.Leu159PheVAR_067956rs267606689
12NDUFAF5p.Gly250ValVAR_076864rs757043077
13NDUFS8p.Pro79LeuVAR_019538rs28939679
14NDUFS8p.Arg102HisVAR_019539rs121912638
15NDUFV1p.Thr423MetVAR_008847rs121913659
16POLGp.Gly848SerVAR_023675rs113994098
17POLGp.Arg232HisVAR_058871rs113994093
18SCO2p.Gly193SerVAR_076281rs759452074
19SCO2p.Met258ThrVAR_076282
20SDHAp.Arg554TrpVAR_002449rs9809219
21SDHAp.Ala524ValVAR_016878rs137852767
22SDHAp.Cys189GlyVAR_074022
23SURF1p.Gly124GluVAR_007450rs28933402
24SURF1p.Ile246ThrVAR_007452
25SURF1p.Gly124ArgVAR_015258rs782033035
26SURF1p.Tyr274AspVAR_015259rs121918658
27SURF1p.Leu90ProVAR_068649rs782024654
28SURF1p.Val177GlyVAR_068650
29SURF1p.Gly205GluVAR_068651
30SURF1p.Met235ThrVAR_068652
31SURF1p.Ala248AspVAR_068653
32SURF1p.Gly257ArgVAR_068654

Clinvar genetic disease variations for Leigh Syndrome:

5 (show all 58)
id Gene Variation Type Significance SNP ID Assembly Location
1SURF1NM_003172.3(SURF1): c.845_846delCT (p.Ser282Cysfs)deletionPathogenicrs782316919GRCh37Chr 9, 136218825: 136218826
2MT-ND1NC_012920.1: m.3481G> ASNVPathogenicrs587776433GRCh37Chr MT, 3481: 3481
3MT-ND1NC_012920.1: m.3890G> ASNVPathogenicrs587776434GRCh37Chr MT, 3890: 3890
4MT-TWNC_012920.1: m.5523T> GSNVPathogenicrs587776435GRCh37Chr MT, 5523: 5523
5MT-TWNC_012920.1: m.5559A> GSNVPathogenicrs370471013GRCh37Chr MT, 5559: 5559
6MT-CO3NC_012920.1: m.9478T> CSNVPathogenicrs587776437GRCh37Chr MT, 9478: 9478
7MT-ND3NC_012920.1: m.10254G> ASNVPathogenicrs587776438GRCh37Chr MT, 10254: 10254
8MT-ND4NC_012920.1: m.11984T> CSNVPathogenicrs200911567GRCh37Chr MT, 11984: 11984
9MT-ND5;MT-TL1NC_012920.1: m.13514A> GSNVPathogenicrs587776440GRCh37Chr MT, 13514: 13514
10MT-TVNC_012920.1: m.1644G> TSNVPathogenicrs587776441GRCh37Chr MT, 1644: 1644
11MT-ND1NC_012920.1: m.3928G> CSNVPathogenicrs587776442GRCh37Chr MT, 3928: 3928
12MT-ATP6NC_012920.1: m.8839G> CSNVPathogenicrs369202065GRCh37Chr MT, 8839: 8839
13MT-ATP6NC_012920.1: m.8989G> CSNVPathogenicrs587776444GRCh37Chr MT, 8989: 8989
14undetermined variantPathogenicChr na, -1: -1
15MT-ND3NC_012920.1: m.10134C> ASNVPathogenicrs587780529GRCh37Chr MT, 10134: 10134
16ECHS1NM_004092.3(ECHS1): c.2T> G (p.Met1Arg)SNVLikely pathogenic, Pathogenicrs587776497GRCh38Chr 10, 133373332: 133373332
17ECHS1NM_004092.3(ECHS1): c.5C> T (p.Ala2Val)SNVLikely pathogenic, Pathogenicrs587776498GRCh37Chr 10, 135186833: 135186833
18IARS2NM_018060.3(IARS2): c.1821G> A (p.Trp607Ter)SNVPathogenicrs373436822GRCh38Chr 1, 220126827: 220126827
19IARS2NM_018060.3(IARS2): c.2122G> A (p.Glu708Lys)SNVPathogenicrs143722284GRCh37Chr 1, 220311332: 220311332
20LRPPRCNM_133259.3(LRPPRC): c.2966G> A (p.Arg989His)SNVLikely pathogenicrs774857058GRCh38Chr 2, 43918329: 43918329
21NDUFA10NM_004544.3(NDUFA10): c.1000-3C> GSNVLikely pathogenicrs199648872GRCh37Chr 2, 240900606: 240900606
22SURF1NM_003172.3(SURF1): c.312_321delTCTGCCAGCCinsAT (p.Leu105Terfs)indelPathogenicrs863224228GRCh37Chr 9, 136221516: 136221525
23SURF1NM_003172.3(SURF1): c.-11_13del24deletionLikely pathogenic, Pathogenicrs863224229GRCh37Chr 9, 136223317: 136223340
24NDUFS8NM_002496.3(NDUFS8): c.343A> G (p.Lys115Glu)SNVLikely pathogenicrs764276946GRCh38Chr 11, 68033254: 68033254
25SURF1NM_003172.3(SURF1): c.106+1G> CSNVLikely pathogenicrs863224926GRCh37Chr 9, 136223123: 136223123
26SURF1NM_003172.3(SURF1): c.586C> T (p.Gln196Ter)SNVPathogenicrs147816470GRCh38Chr 9, 133352696: 133352696
27MT-ATP6m.9185T> Cundetermined variantPathogenicChr na, -1: -1
28SURF1NM_003172.3(SURF1): c.754_755delAG (p.Ser252Hisfs)deletionLikely pathogenicrs782007828GRCh38Chr 9, 133352139: 133352140
29MTFMTNM_139242.3(MTFMT): c.626C> T (p.Ser209Leu)SNVPathogenicrs201431517GRCh37Chr 15, 65313871: 65313871
30MTFMTNM_139242.3(MTFMT): c.994C> T (p.Arg332Ter)SNVPathogenicrs200286768GRCh37Chr 15, 65295576: 65295576
31MT-ATP6m.9191T> CSNVPathogenicrs386829069GRCh37Chr MT, 9191: 9191
32NDUFS4NM_002495.3(NDUFS4): c.462delA (p.Lys154Asnfs)deletionPathogenicrs587776949GRCh38Chr 5, 53683155: 53683155
33MT-TVm.1624C> TSNVPathogenicrs199476144GRCh37Chr MT, 1624: 1624
34MT-TWm.5537_5538insTinsertionPathogenicrs199474672GRCh37Chr MT, 5537: 5538
35MT-TKm.8344A> GSNVPathogenicrs118192098GRCh37Chr MT, 8344: 8344
36MT-TKm.8363G> ASNVPathogenicrs118192100GRCh37Chr MT, 8363: 8363
37MT-TL1m.3243A> GSNVPathogenicrs199474657GRCh37Chr MT, 3243: 3243
38MT-ATP6m.8993T> GSNVPathogenicrs199476133GRCh37Chr MT, 8993: 8993
39MT-ATP6m.8993T> CSNVPathogenicrs199476133GRCh37Chr MT, 8993: 8993
40MT-ATP6m.9176T> CSNVPathogenicrs199476135GRCh37Chr MT, 9176: 9176
41MT-ATP6m.8851T> CSNVPathogenicrs199476136GRCh37Chr MT, 8851: 8851
42MT-ATP6m.9185T> CSNVPathogenicrs199476138GRCh37Chr MT, 9185: 9185
43MT-ATP6m.9176T> GSNVPathogenicrs199476135GRCh37Chr MT, 9176: 9176
44MT-CO3m.9537dupCduplicationPathogenicrs267606614GRCh37Chr MT, 9537: 9537
45MT-ND6NC_012920.1: m.14484T> CSNVLikely pathogenic, Pathogenicrs199476104GRCh37Chr MT, 14484: 14484
46MT-ND6m.14459G> ASNVPathogenicrs199476105GRCh37Chr MT, 14459: 14459
47MT-ND6m.14487T> CSNVPathogenicrs199476109GRCh37Chr MT, 14487: 14487
48MT-ND5m.12706T> CSNVPathogenicrs267606893GRCh37Chr MT, 12706: 12706
49MT-ND5m.13045A> CSNVPathogenicrs267606895GRCh37Chr MT, 13045: 13045
50MT-ND5m.13084A> TSNVPathogenicrs267606896GRCh37Chr MT, 13084: 13084
51MT-ND5;MT-TL1m.13513G> ASNVPathogenicrs267606897GRCh37Chr MT, 13513: 13513
52MT-ND5m.13042G> ASNVPathogenicrs267606898GRCh37Chr MT, 13042: 13042
53MT-ND4m.11777C> ASNVPathogenicrs28384199GRCh37Chr MT, 11777: 11777
54MT-ND3m.10191T> CSNVPathogenicrs267606890GRCh37Chr MT, 10191: 10191
55MT-ND3m.10158T> CSNVPathogenicrs199476117GRCh37Chr MT, 10158: 10158
56MT-ND3m.10197G> ASNVPathogenicrs267606891GRCh37Chr MT, 10197: 10197
57MT-ND2m.4681T> CSNVPathogenicrs267606889GRCh37Chr MT, 4681: 4681
58MT-ND1m.3460G> ASNVPathogenicrs199476118GRCh37Chr MT, 3460: 3460

Expression for genes affiliated with Leigh Syndrome

About this section
Search GEO for disease gene expression data for Leigh Syndrome.

GO Terms for genes affiliated with Leigh Syndrome

About this section

Cellular components related to Leigh Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chainGO:000574611.2COX15, SURF1
2cytochrome complexGO:007006911.2COX10, COX15
3mitochondrial respiratory chain complex IGO:000574711.0MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, NDUFA10
4mitochondrial inner membraneGO:000574311.0COX10, COX15, MT-ATP6, MT-ND1, MT-ND2, MT-ND3
5mitochondrionGO:000573910.3COX10, COX15, MT-ND1, MT-ND3, MT-ND4, NDUFS4

Biological processes related to Leigh Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1ATP biosynthetic processGO:000675411.1MT-ATP6, SURF1
2aerobic respirationGO:000906011.1COX10, SURF1
3heme a biosynthetic processGO:000678411.1COX10, COX15
4heme biosynthetic processGO:000678311.1COX10, COX15
5cellular respirationGO:004533311.1COX10, COX15, NDUFS4
6mitochondrial electron transport, cytochrome c to oxygenGO:000612311.0COX10, COX15
7hydrogen ion transmembrane transportGO:190260011.0COX10, COX15, SURF1
8respiratory chain complex IV assemblyGO:000853511.0COX10, COX15, SURF1
9mitochondrial electron transport, NADH to ubiquinoneGO:000612010.9MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6
10mitochondrial respiratory chain complex I assemblyGO:003298110.8MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6
11response to oxidative stressGO:000697910.4MT-ND3, NDUFA12, NDUFS8

Molecular functions related to Leigh Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytochrome-c oxidase activityGO:000412910.9COX10, COX15, SURF1
2NADH dehydrogenase (ubiquinone) activityGO:000813710.5MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6
3NADH dehydrogenase activityGO:000395410.4NDUFS7, NDUFS8

Sources for Leigh Syndrome

About this section
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