MCID: MSC077
MIFTS: 56

Muscle Eye Brain Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Muscle diseases

Aliases & Classifications for Muscle Eye Brain Disease

About this section
Sources:
24GeneTests, 26GTR, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Muscle Eye Brain Disease:

Name: Muscle Eye Brain Disease 47 67
Muscle-Eye-Brain Disease 47 24 53 49
Muscle-Eye-Brain Syndrome 53 26
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A3 47
 
Santavuori Congenital Muscular Dystrophy 53
Meb Syndrome 53
Meb Disease 24
Meb 47

Characteristics:

Orphanet epidemiological data:

53
muscle-eye-brain disease:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA588
UMLS via Orphanet68 C0457133

Summaries for Muscle Eye Brain Disease

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MalaCards based summary: Muscle Eye Brain Disease, also known as muscle-eye-brain disease, is related to muscular dystrophy-dystroglycanopathy , type b, 1 and muscular dystrophy-dystroglycanopathy , type a, 1, and has symptoms including hydrocephalus, strabismus and glaucoma. An important gene associated with Muscle Eye Brain Disease is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)), and among its related pathways are Other types of O-glycan biosynthesis and terminal O-glycans residues modification. Affiliated tissues include brain, eye and cortex, and related mouse phenotypes are muscle and immune system.

Related Diseases for Muscle Eye Brain Disease

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Diseases related to Muscle Eye Brain Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type b, 131.5FKRP, FKTN, POMT1
2muscular dystrophy-dystroglycanopathy , type a, 111.7
3muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1111.7
4muscular dystrophy-dystroglycanopathy , type a, 911.6
5muscular dystrophy-dystroglycanopathy , type a, 311.6
6muscular dystrophy-dystroglycanopathy , type a, 711.6
7muscular dystrophy-dystroglycanopathy , type a, 1211.6
8muscular dystrophy-dystroglycanopathy , type a, 1311.6
9muscular dystrophy-dystroglycanopathy , type a, 1011.6
10muscular dystrophy-dystroglycanopathy , type a, 211.6
11muscular dystrophy-dystroglycanopathy , type a, 511.6
12muscular dystrophy-dystroglycanopathy , type a, 611.6
13muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 811.5
14muscular dystrophy-dystroglycanopathy , type a, 1411.5
15muscular dystrophy-dystroglycanopathy , type a, 411.5
16congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1011.0
17congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1211.0
18congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1311.0
19congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1411.0
20muscular dystrophy, congenital, merosin-positive10.7
21muscular dystrophy-dystroglycanopathy , type c, 110.7
22intellectual disability-facial dysmorphism-hand anomalies syndrome10.1FKRP, FKTN, ISPD, POMT1
23gastric antral vascular ectasia10.1FKTN, POMGNT1, POMT1
24aicardi-goutieres syndrome 310.0B4GAT1, GCNT2
25finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome9.9FKRP, GMPPB, LARGE1, POMT1, POMT2
26retinitis9.9
27muscular dystrophy9.8
28hyperphosphatemia9.8DAG1, FKRP, FKTN, ISPD, TMEM5
29intellectual disability-seizures-macrocephaly-obesity syndrome9.7FKRP, GMPPB, POMGNT1, POMK, POMT1, POMT2
30schindler disease9.7DAG1, DMD, SGCA
31cerebritis9.7
32meningitis9.7
33cubitus valgus with mental retardation and unusual facies9.5DMD, LAMA2
34proliferating trichilemmal cyst9.5DMD, FKRP, POMT2, SGCA
35chronic granulomatous disease, x-linked9.5DMD, SGCA
36muscular dystrophy-dystroglycanopathy , type b, 49.1DMD, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
37immunodeficiency 34, mycobacteriosis, x-linked8.9DAG1, DMD, LAMA2, SGCA
38thrombocytopenia, x-linked8.9DMD, FKRP, FKTN, LAMA2, SGCA
39ectodermal dysplasia8.7DAG1, DMD, FKTN, LAMA2, SGCA
40classic variant of chromophobe renal cell carcinoma8.7DAG1, DMD, FKRP, FKTN, LAMA2, SGCA
41muscular dystrophy, congenital8.3DAG1, DMD, FKRP, FKTN, LAMA2, LARGE1
42median arcuate ligament syndrome8.3DAG1, DMD, FKRP, FKTN, LAMA2, POMT1
43colon cancer, advanced somatic7.6B3GALNT2, B4GAT1, DAG1, DMD, FKRP, FKTN
44medial medullary syndrome6.1B3GALNT2, B4GAT1, DAG1, FKRP, FKTN, GCNT2
45nonsyndromic deafness5.7B3GALNT2, B4GAT1, DAG1, DMD, FKRP, FKTN

Graphical network of the top 20 diseases related to Muscle Eye Brain Disease:



Diseases related to muscle eye brain disease

Symptoms for Muscle Eye Brain Disease

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Human phenotypes related to Muscle Eye Brain Disease:

 63 53 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus63 53 hallmark (90%) Very frequent (99-80%) HP:0000238
2 strabismus63 53 hallmark (90%) Very frequent (99-80%) HP:0000486
3 glaucoma63 53 hallmark (90%) Very frequent (99-80%) HP:0000501
4 visual impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000505
5 myopia63 53 hallmark (90%) Very frequent (99-80%) HP:0000545
6 optic atrophy63 53 hallmark (90%) Very frequent (99-80%) HP:0000648
7 gait disturbance63 53 hallmark (90%) Very frequent (99-80%) HP:0001288
8 neurological speech impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002167
9 eeg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0002353
10 myopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0003198
11 emg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0003457
12 cognitive impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0100543
13 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
14 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
15 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
16 hypertonia63 53 typical (50%) Frequent (79-30%) HP:0001276
17 abnormality of the voice63 53 typical (50%) Frequent (79-30%) HP:0001608
18 holoprosencephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0001360
19 meningocele63 53 occasional (7.5%) Occasional (29-5%) HP:0002435
20 hemiplegia/hemiparesis63 53 occasional (7.5%) Occasional (29-5%) HP:0004374
21 aplasia/hypoplasia of the cerebellum63 53 occasional (7.5%) Occasional (29-5%) HP:0007360
22 elevated serum creatine phosphokinase53 Very frequent (99-80%)
23 abnormality of movement53 Frequent (79-30%)

Drugs & Therapeutics for Muscle Eye Brain Disease

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Drugs for Muscle Eye Brain Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 197)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineapprovedPhase 477651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2
Yohimbineapproved, vet_approvedPhase 427146-48-58969
Synonyms:
(+)-Yohimbin
(+)-Yohimbine
(+)-yohimbine
(16alpha,17alpha)-17-Hydroxy-yohimban-16-carboxylic acid methyl ester
(16alpha,17alpha)-17-Hydroxyyohimban-16-carboxylic acid methyl ester
(16alpha,17alpha)-17-hydroxyyohimban-16-carboxylic acid methyl ester
146-48-5
17-Hydroxy-yohimbane-16-carboxylic acid methyl ester
17-Hydroxyyohimban-16-carboxylic acid methyl ester
17alpha-Hydroxyyohimban-16alpha-carboxylic acid methyl ester
17alpha-hydroxyyohimban-16alpha-carboxylic acid methyl ester
2-Hydroxy-1,2,3,4,4a,5,7,8,13,13b,14,14a-dodecahydro-indolo[2',3':3,4]pyrido[1,2-b]isoquinoline-1-carboxylic acid methyl ester
4-25-00-01237 (Beilstein Handbook Reference)
65-19-0
AC1L1S1D
APHRODINE
Actibine
Aphrodine
Aphrodyne
Aphrosol
BCBcMAP01_000032
BPBio1_000472
BRD-K35586044-001-02-6
BRD-K35586044-003-03-0
BRN 0097276
BSPBio_000428
BSPBio_001236
Baron-X
Benz[g]indolo[2,3-a]quinolizine, yohimban-16-carboxylic acid deriv.
Bio1_000455
Bio1_000944
Bio1_001433
Bio2_000458
Bio2_000938
C09256
CHEBI:10093
CHEMBL15245
CID8969
Corynine
D08685
DB01392
Dayto himbin
EINECS 205-672-0
HMS1362N17
HMS1792N17
HMS1990N17
HMS2089G19
I14-13374
IDI1_002213
 
InChI=1/C21H26N2O3/c1-26-21(25)19-15-10-17-20-14(13-4-2-3-5-16(13)22-20)8-9-23(17)11-12(15)6-7-18(19)24/h2-5,12,15,17-19,22,24H,6-11H2,1H3/t12?,15?,17?,18-,19+/m0/s
Johimbin
KBio2_000576
KBio2_003144
KBio2_005712
KBio3_001031
KBio3_001032
KBioGR_000576
KBioSS_000576
LS-162738
Lopac0_001210
MLS000728591
MLS001333983
MolPort-001-794-653
NCGC00025018-05
NCGC00025018-06
NCGC00025018-07
NSC19509
Prestwick0_000584
Prestwick1_000584
Prestwick2_000584
Prestwick3_000584
Quebrachin
Quebrachine
SMP1_000320
SMR000058527
SMR000470778
SPBio_002647
STOCK1N-51304
Thybine
UNII-2Y49VWD90Q
Yocon
Yohimar
Yohimban-16-.alpha.-carboxylic acid, 17-.alpha.-hydroxy-, methyl ester
Yohimban-16-alpha-carboxylic acid, 17-alpha-hydroxy-, methyl ester
Yohimban-16-carboxylic acid, 17-hydroxy-, methyl ester, (16alpha,17alpha)- (9CI)
Yohimban-16alpha-carboxylic acid, 17alpha-hydroxy-, methyl ester (8CI)
Yohimbic acid methyl ester
Yohimbin
Yohimbine
Yohimbine (DCF)
Yohimbol-16alpha-carboxylic acid, methyl ester (6CI)
Yohimex
Yoman
Yovital
methyl (16alpha,17alpha)-17-hydroxyyohimban-16-carboxylate
methyl 17alpha-hydroxyyohimban-16alpha-carboxylate
nchembio.188-comp13
nchembio705-2
trans-Quinolizidine yohimbine
3
Diethylcarbamazineapproved, vet_approvedPhase 41490-89-13052
Synonyms:
1-Diethylcarbamyl-4-methylpiperazine
12672-34-3
1642-54-2 (citrate (1:1))
4-23-00-00225 (Beilstein Handbook Reference)
5348-97-0
5348-97-0 (mono-hydrochloride)
8028-18-0
84L
90-89-1
AB00053457
AC1L1F2E
AI3-19612
AKOS003268016
BPBio1_000208
BRD-K45542189-048-05-6
BRN 0143029
BSPBio_000188
BSPBio_002179
Bitirazine
C07968
CHEMBL684
CID3052
Camin
Camin (TN)
Caracide
Carbamazine
Carbilazine
Caricide
Cypip
D07825
DB00711
Decacide
Diaethylcarbamazinum
Diethyl carbamazine
Diethylcarbamazin
Diethylcarbamazine (INN)
Diethylcarbamazine [INN:BAN]
Diethylcarbamazinum
Diethylcarbamazinum [INN-Latin]
 
Dietilcarbamazina
Dietilcarbamazina [INN-Spanish]
Ditrazine Base
Ditrazine base
DivK1c_000548
Diéthylcarbamazine
EINECS 202-023-3
Ethodryl
FR-1031
IDI1_000548
KBio1_000548
KBio2_001418
KBio2_003986
KBio2_006554
KBio3_001399
KBioGR_001081
KBioSS_001418
LS-110688
Luxuran
MolPort-001-788-448
N,N-Diethyl-4-methyl-1-piperazinecarboxamide
N,N-diethyl-4-methylpiperazine-1-carboxamide
NCGC00178778-01
NCGC00178778-02
NINDS_000548
NSC1364
Notezine
Prestwick0_000284
Prestwick1_000284
Prestwick2_000284
Prestwick3_000284
SPBio_001203
SPBio_002407
Spatonin
Spectrum2_001022
Spectrum3_000390
Spectrum4_000511
Spectrum5_000877
Spectrum_000938
UNII-V867Q8X3ZD
diethylcarbamazine
4
Ivermectinapproved, vet_approvedPhase 45770288-86-76474909, 46936176
Synonyms:
(2aE,4E,5'S,6S,6'R,7S,8E,11R,13R,15S,17aR,20R,20aR,20bS)-20,20b-dihydroxy-5',6,8,19-tetramethyl-6'-[(1S)-1-methylpropyl]-17-oxo-3',4',5',6,6',10,11,14,15,17,17a,20,20a,20b-tetradecahydro-2H,7H-spiro[11,15-methanofuro[4,3,2-pq][2,6]benzodioxacyclooctadecine-13,2'-pyran]-7-yl 2,6-dideoxy-4-O-(2,6-dideoxy-3-O-methyl-alpha-L-arabino-hexopyranosyl)-3-O-methyl-alpha-L-arabino-hexopyranoside
22,23-Dihydroxy-avermectin B
22,23-Dihyroavermectin B1
5-O-Demethyl-22,23-dihydro-avermectin A1a
71827-03-7
AB00513813
AC1MJ4GR
AC1N7O27
BPBio1_000322
BRD-K24652731-001-02-7
BSPBio_000292
CHEMBL341047
CID11957587
CID4330618
CID6321424
CID6419971
CID6427057
EU-0100693
FT-0082656
HMS1568O14
 
HMS2089M09
I 8898
I8898_SIGMA
IVERMECTIN
Ivermectin
Ivermectina
Ivermectine
Ivermectinum
Lopac0_000693
MK-933
MLS001333247
MLS001333248
MLS002153248
MolPort-006-394-715
NCGC00094047-01
NCGC00094047-02
NCGC00094047-03
Prestwick2_000156
Prestwick3_000156
Prestwick_516
S1351_Selleck
SMR000857211
5
BenzocaineapprovedPhase 418921994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
6tannic acidapproved, NutraceuticalPhase 41892
7Central Nervous System DepressantsPhase 4, Phase 212806
8Peripheral Nervous System AgentsPhase 4, Phase 222776
9Cholinergic AgentsPhase 43846
10incobotulinumtoxinAPhase 4635
11Anesthetics, GeneralPhase 42787
12Adrenergic AgentsPhase 45140
13Anesthetics, InhalationPhase 4649
14AnestheticsPhase 49001
15onabotulinumtoxinAPhase 4626
16Botulinum Toxins, Type APhase 4630
17MydriaticsPhase 4763
18abobotulinumtoxinAPhase 4626
19Adrenergic AntagonistsPhase 41535
20Adrenergic alpha-AntagonistsPhase 4727
21Neurotransmitter AgentsPhase 4, Phase 317734
22Autonomic AgentsPhase 49774
23Lipoxygenase InhibitorsPhase 477
24Antiparasitic AgentsPhase 42127
25Anti-Infective AgentsPhase 421402
26AnthelminticsPhase 4431
27YohimbeNutraceuticalPhase 427
28
Ropiniroleapproved, investigationalPhase 37391374-20-8, 91374-21-95095, 497540
Synonyms:
1,3-Dihydro-4-(2-(dipropylamino)ethyl)-2H-indol-2-one monohydrochloride
2(H)-Indol-2-one, 4-(2-(dipropylamino)ethyl)-1,3-dihydro-, monohydrochloride
2H-Indol-2-one, 1,3-dihydro-4-(2-(dipropylamino)ethyl)-, monohydrochloride
2H-Indol-2-one, 4-[2-(dipropylamino)ethyl]-1,3-dihydro-, hydrochloride (1:1)
4-(2-(Dipropylamino)ethyl)-2-indolinone monohydrochloride
4-[2-(Dipropylamino)ethyl]-1,3-dihydro-2H-indol-2-one
4-[2-(Dipropylamino)ethyl]indoline-2-one
4-[2-(dipropylamino)ethyl]-1,3-dihydro-2H-indol-2-one hydrochloride
4-[2-(dipropylamino)ethyl]-1,3-dihydroindol-2-one
4-[2-(dipropylamino)ethyl]-1,3-dihydroindol-2-one hydrochloride
91374-20-8
91374-20-8 (hydrochloride)
91374-21-9
91374-21-9 (Parent)
AB1004799
AC-735
AC1L1JLL
AC1L2ABS
AC1Q3EQJ
AR-1L3132
Adartrel
BIDD:GT0826
BRD-K15933101-003-01-2
C07564
CHEBI:8888
CHEMBL1200411
CHEMBL589
CID5095
CID68727
D00784
D08489
DB00268
EU-0101101
HMS2093K04
I06-0692
I06-0693
JZP-7
L000520
LS-83828
LS-83890
Lopac-R-4152
Lopac0_001101
 
MolPort-003-666-598
MolPort-003-987-439
NCGC00015893-01
NCGC00015893-04
NCGC00094373-01
NCGC00096064-01
NCGC00096064-02
NVD-434
R 4152
ReQuip
ReQuip CR
ReQuip LP
ReQuip XL
ReQuip XR
Repreve
Requip (TN)
Ropinirol
Ropinirol [INN-Spanish]
Ropinirole
Ropinirole (INN)
Ropinirole HCl
Ropinirole [INN:BAN]
Ropinirole hydrochloride
Ropinirole hydrochloride (JAN/USAN)
Ropinirole hydrochloride [USAN]
Ropinirolum
Ropinirolum [INN-Latin]
Ropitor
Ropitor (TN)
SK&F 101468
SK&F 101468-A
SK&F-101,468
SK&F-101468-A
SK&F-101468A
SKF 101468
SKF 101468-A
SPECTRUM1505178
ST51051236
TL8005858
TL8005859
UNII-030PYR8953
UNII-D7ZD41RZI9
ropinirol
29
DopamineapprovedPhase 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
30
Armodafinilapproved, investigationalPhase 3195112111-43-0
Synonyms:
 
(–)-2-[(R)-(diphenylmethyl)sulfinyl]acetamide
R-modafinil
31
Modafinilapproved, investigationalPhase 319568693-11-84236
Synonyms:
Dea No. 1680
Modafinil
Modafinil [USAN:INN]
Modafinil [Usan:Inn]
Modafinilo
Modafinilo [Spanish]
 
Modafinilum
Modafinilum [Latin]
Moderateafinil
Modiodal
Provigil
Sparlon
modafinil
32Dopamine AgentsPhase 33759
33Antiparkinson AgentsPhase 31527
34N 0437Phase 386
35Dopamine agonistsPhase 3618
36Wakefulness-Promoting AgentsPhase 3192
37Central Nervous System StimulantsPhase 32132
38Cytochrome P-450 CYP3A InducersPhase 31101
39
Pregabalinapproved, illicit, investigationalPhase 2355148553-50-85486971
Synonyms:
(3S)-3-(aminomethyl)-5-methylhexanoic acid
(R-)-3-isobutyl GABA
(S)-3-(Aminomethyl)-5-methylhexanoic acid
(S)-3-Isobutyl gaba
(S+)-3-isobutyl GABA
121GE001
148553-50-8
3-Isobutyl gaba
3-isobutyl GABA
AC-1158
AC1NUP03
AKOS005145504
C080245
C8H17NO2
CHEBI:236161
CHEMBL1059
CI 1008
CI-1008
CID5486971
 
D02716
DB00230
FT-0080911
HSDB 7530
LS-75191
Lyrica
Lyrica (TN)
MolPort-000-861-733
PD 144723
PD-144723
Pregabalin
Pregabalin (JAN/USAN/INN)
Pregabalin [USAN]
Pregablin
S-(+)-3-isobutylgaba
S1731_Selleck
SBB062901
TL8001062
TOS-BB-0910
UNII-55JG375S6M
40
Irinotecanapproved, investigationalPhase 2, Phase 1108097682-44-5, 100286-90-660838
Synonyms:
(+)-Irinotecan
(4S)-4,11-DIETHYL-4-HYDROXY-3,14-DIOXO-3,4,12,14-TETRAHYDRO-1H-PYRANO[3',4':6,7]INDOLIZINO[1,2-B]QUINOLIN-9-YL 1,4'-BIPIPERIDINE-1'-CARBOXYLATE
(4S)-4,11-Diethyl-4-hydroxy-3,14-dioxo-4,12-dihydro-1H-pyrano[3,4-f]quinolino[2,3-a]indolizin-9-yl 4-piperidylpiperidinecarboxylate
1u65
97682-44-5
AC-7469
AC1L1U0Z
AC1Q6PGI
BRD-K08547377-003-02-4
BSPBio_002346
Bio-0054
Biotecan
Biotecan (TN)
C16641
C33H38N4O6
CHEBI:105985
CHEMBL481
CID60838
CP0
Campothecin-11
Campto
Camptosar
 
Camptosar, Campto, CPT-11, Irinotecan
Camptothecin-11
D08086
DB00762
FT-0083650
HSDB 7607
IRINOTECAN HYDROCHLORIDE Trihydrate
IRINOTECAN, CPT-11
Irinotecan (INN)
Irinotecan Hcl
Irinotecan Hydrochloride
Irinotecan Hydrochloride Trihydrate
Irinotecan [INN:BAN]
Irinotecan hydrochloride
Irinotecanum
Irinotecanum [INN-Latin]
LS-44589
NCI60_005051
NSC728073
S1198_Selleck
TL8006026
UNII-7673326042
irinotecan
41
Oxaliplatinapproved, investigationalPhase 2, Phase 1141261825-94-35310940, 9887054, 43805, 6857599, 9887054
Synonyms:
CHEMBL1201055
CID9887054
D01790
DACPLAT
Diaminocyclohexane Oxalatoplatinum
Eloxatin
Eloxatin (TN)
Elplat
Foloxatine
L-OHP
Oxalatoplatin
 
Oxalatoplatinum
Oxaliplatin (JAN/USAN/INN)
Oxaliplatin [Usan:Inn:Ban]
Oxaliplatino [Spanish]
Oxaliplatinum [Latin]
Oxaloplatine [French]
Oxaloplatino [Spanish]
Transplatin
oxaliplatin
oxaliplatine
oxaliplatino
oxaliplatinum
42
MexiletineapprovedPhase 22031828-71-44178
Synonyms:
(+-)-1-(2,6-Dimethylphenoxy)propan-2-amine
(+-)-1-(2,6-dimethylphenoxy)propan-2-amine
(2RS)-1-(2,6-dimethylphenoxy)-2-aminopropane
1-(2',6'-Dimethylphenoxy)-2-aminopropane
1-(2,6-Dimethylphenoxy)-2-propanamine
1-(2,6-dimethylphenoxy)propan-2-amine
1-Methyl-2-(2,6-xylyloxy)ethanamine
1-Methyl-2-(2,6-xylyloxy)ethylamine
1-methyl-2-(2,6-xylyloxy)ethanamine
2-(2-Aminopropoxy)-1,3-DiMethyl-Benzene Hydrochloride
2-(2-aminopropoxy)-1,3-dimethylbenzene
31828-71-4
5370-01-4 (hydrochloride)
AB00053683
AC1L1HL7
AC1Q2BC5
AC1Q2BC6
BPBio1_000026
BRD-A64092382-003-04-3
BRN 2092205
BSPBio_000022
BSPBio_002254
C07220
CHEBI:115958
CHEBI:6916
CHEMBL558
CID4178
D08215
DB00379
DivK1c_000834
EINECS 250-825-7
I01-6374
IDI1_000834
KBio1_000834
KBio2_002082
KBio2_004650
 
KBio2_007218
KBio3_001474
KBioGR_001270
KBioSS_002082
KO-1173
KO1173
KOE-1173
LS-68257
Lopac0_000784
Mexiletene
Mexiletina
Mexiletina [INN-Spanish]
Mexiletine
Mexiletine (INN)
Mexiletine HCL
Mexiletine [INN:BAN]
Mexiletinum
Mexiletinum [INN-Latin]
Mexilitine
Mexilétine
Mexitil
Mexityl
MolPort-001-790-944
NCGC00015659-04
NCGC00162253-01
NCGC00162253-02
NINDS_000834
Prestwick0_000241
Prestwick1_000241
Prestwick2_000241
Prestwick3_000241
SBB070242
SPBio_002241
Spectrum3_000727
Spectrum4_000795
Spectrum5_001279
Spectrum_001602
UNII-1U511HHV4Z
43
Prednisoneapproved, vet_approvedPhase 2135953-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
 
Juvason
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
44
SimvastatinapprovedPhase 251079902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
45
MethotrexateapprovedPhase 215181959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
 
Methopterin
Methotextrate
Methotrate
Methotrexat
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Rheumatrex
Trexall
46
Daclizumabapproved, investigationalPhase 298152923-56-3
Synonyms:
 
Dacliximab
Daclizumab beta
47
Folic Acidapproved, nutraceutical, vet_approvedPhase 2427959-30-36037
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
48
CamptothecinexperimentalPhase 2, Phase 16997689-03-4
Synonyms:
(+)-camptothecin
(+)-camptothecine
(s)-(+)-camptothecin
 
(s)-camptothecin
20(S)-Camptothecin
21,22-Secocamptothecin-21-oic acid lactone
Camptothecine
D-camptothecin
49AnalgesicsPhase 211287
50AnticonvulsantsPhase 22620

Interventional clinical trials:

(show top 50)    (show all 97)
idNameStatusNCT IDPhase
1Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.CompletedNCT01997489Phase 4
2The Effect of an α2-Adrenoceptor Antagonist (Yohimbine) on Dynamic Autoregulation in the Human Middle Cerebral Artery and Ophthalmic ArteryCompletedNCT00814047Phase 4
3Post-treatment Effects of Ivermectin (IVM) or Diethylcarbamazine (DEC) in LoiasisCompletedNCT01593722Phase 4
4Post Marketing Surveillance Study of DysportCompletedNCT00210431Phase 4
5Study Evaluating Whether the Bispectral Index Prevents Patients at Higher Risk From Being Awake During Surgery and AnesthesiaCompletedNCT00682825Phase 4
6Safety and Tolerability Trial of Switching From Ropinirole to RotigotineCompletedNCT00593606Phase 3
7Modafinil to Treat Fatigue in Post-Polio SyndromeTerminatedNCT00067496Phase 3
8A Clinical Trial to Study the Safety and Efficacy of Bone Marrow Derived Autologous Cell for the Treatment of Stroke.Unknown statusNCT01832428Phase 1, Phase 2
9Functional Neuroimaging in Fibromyalgia Patients Receiving tDCSUnknown statusNCT01904097Phase 2
10Eye Muscle Surgery to Treat Congenital NystagmusCompletedNCT00001866Phase 2
11A Comparison of an Implanted Neuroprosthesis With Sensory Training for Improving Airway Protection in Chronic DysphagiaCompletedNCT00376506Phase 2
12Effects of Rapid-Resisted Exercise and Bright Light Therapy on Ambulatory Adults With Traumatic Brain InjuryCompletedNCT01175993Phase 1, Phase 2
13Brain Stimulation to Treat Blepharospasm or Meige SyndromeCompletedNCT00411255Phase 2
14Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) to Treat Progressive Supranuclear PalsyCompletedNCT00005903Phase 2
15High-Dose Intravenous Immunoglobulin to Treat Cerebellar DegenerationCompletedNCT00034242Phase 2
16Volitional Swallowing in Stroke Patients With Chronic DysphagiaCompletedNCT00306501Phase 2
17Daclizumab to Treat Wegener's GranulomatosisCompletedNCT00040248Phase 2
18Steroids and Methotrexate to Treat Systemic VasculitisCompletedNCT00001256Phase 2
19Simvastatin Therapy in Smith-Lemli-Opitz SyndromeCompletedNCT00064792Phase 2
20Mexiletine for the Treatment of Focal DystoniaCompletedNCT00001784Phase 2
21Irinotecan in Treating Children With Refractory Solid TumorsCompletedNCT00004078Phase 2
22Oxaliplatin in Treating Young Patients With Recurrent Solid Tumors That Have Not Responded to Previous TreatmentCompletedNCT00091182Phase 2
23The KHENERGY StudyRecruitingNCT02909400Phase 2
24Inflammation Inhibition in Prediabetic HumansRecruitingNCT01977417Phase 2
25The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Years Old Strabismic PatientsUnknown statusNCT00917982Phase 1
26Effects of Direct Current Brain Stimulation on CognitionCompletedNCT00048698Phase 1
27Therapeutic Riding and Neuromuscular DiseaseCompletedNCT01621984Phase 1
28Flavopiridol in Treating Children With Relapsed or Refractory Solid Tumors or LymphomasCompletedNCT00012181Phase 1
29Oxaliplatin and Irinotecan in Treating Young Patients With Refractory Solid Tumors or LymphomasCompletedNCT00101270Phase 1
30Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal NeuropathyRecruitingNCT02362438Phase 1
31Influence of Oxytocin on the Startle Reflex and on Its ModulationUnknown statusNCT01066299
32Biomarkers of Social Sensitivity in Major DepressionUnknown statusNCT02214511
33Growth Hormone for Osteoporosis Pseudoglioma SyndromeUnknown statusNCT01614171
34Eye-Hand Coordination in Children With Spastic DiplegiaCompletedNCT00024791
35Abnormal Movements, Cerebellum and Sensorimotor : Oculomotor StudyCompletedNCT01495897
36Brain Activation in Vocal and Motor TicsCompletedNCT00026000
37Effect of Combined Therapy on Neglect Syndrome in Stroke PatientsCompletedNCT00784706
38Brain Dynamics Involved in Generating Tics and Controlling Voluntary MovementCompletedNCT00056420
39Data Collection in Women With Fabry DiseaseCompletedNCT00030134
40Tactile Learning in Stroke PatientsCompletedNCT00283881
41Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A ActivityCompletedNCT00106912
42Brain Control of BlinkingCompletedNCT00030199
43Thyroid Treatment TrialCompletedNCT00348413
44Brain Use of Sensory Information to Generate MovementCompletedNCT00055289
45Aquatic Therapy Versus Land-Based Therapy for the Treatment of Balance Dysfunction in Parkinson's DiseaseCompletedNCT02701621
46Transcranial Direct Current Stimulation to Improve Hand Movement in Stroke PatientsCompletedNCT00307385
47Motor Performance in Chronic Stroke PatientsCompletedNCT00110175
48Genetic Analysis of Oculocerebrorenal Syndrome of LoweCompletedNCT00359515
49Physiologic Studies of SpasticityCompletedNCT00014976
50Hypersensitivity in Tourette SyndromeCompletedNCT00368433

Search NIH Clinical Center for Muscle Eye Brain Disease

Genetic Tests for Muscle Eye Brain Disease

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Genetic tests related to Muscle Eye Brain Disease:

id Genetic test Affiliating Genes
1 Muscle Eye Brain Disease26
2 Muscle-Eye-Brain Disease24

Anatomical Context for Muscle Eye Brain Disease

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MalaCards organs/tissues related to Muscle Eye Brain Disease:

35
Brain, Eye, Cortex, Cerebellum, Thyroid, Liver, Bone

Animal Models for Muscle Eye Brain Disease or affiliated genes

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MGI Mouse Phenotypes related to Muscle Eye Brain Disease:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.3B4GAT1, DAG1, DMD, FKRP, FKTN, LAMA2
2MP:00053876.7B4GAT1, DMD, FKRP, FKTN, GCNT2, LAMA2
3MP:00053866.6B4GAT1, DAG1, DMD, FKRP, FKTN, GCNT2
4MP:00053846.5B4GAT1, DAG1, DMD, FKRP, FKTN, ISPD
5MP:00053786.5DAG1, DMD, FKRP, FKTN, LAMA2, LAMB2
6MP:00053766.3DAG1, DMD, FKRP, FKTN, GCNT2, LAMA2
7MP:00107685.8B4GAT1, DAG1, DMD, FKRP, FKTN, ISPD
8MP:00036315.5B4GAT1, DAG1, DMD, FKRP, FKTN, ISPD

Publications for Muscle Eye Brain Disease

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Articles related to Muscle Eye Brain Disease:

(show all 44)
idTitleAuthorsYear
1
Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease. (27375352)
2016
2
Long-term survival in a patient with muscle-eye-brain disease. (26152802)
2015
3
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. (24731844)
2014
4
Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease: A Novel Mutation in the POMGNT1 Gene. (24282183)
2014
5
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. (24052401)
2013
6
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. (23689641)
2013
7
Novel retinal findings in an infant with muscle-eye-brain disease. (25390965)
2012
8
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. (22554691)
2012
9
RPTPIP/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. (22728091)
2012
10
Multiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease. (21403000)
2011
11
Biochemical correlation of activity of the I+-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. (21361872)
2011
12
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. (20934392)
2010
13
Muscle-Eye-Brain disease. (20215985)
2010
14
Teaching neuroimages: prenatal MRI of muscle-eye-brain disease. (20513809)
2010
15
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. (19679478)
2009
16
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. (17881266)
2008
17
Prenatal diagnosis of muscle-eye-brain disease. (17154333)
2007
18
Breaches of the pial basement membrane and disappearance of the glia limitans during development underlie the cortical lamination defect in the mouse model of muscle-eye-brain disease. (17479518)
2007
19
Ectopia of meningeal fibroblasts and reactive gliosis in the cerebral cortex of the mouse model of muscle-eye-brain disease. (17924568)
2007
20
Breaches of the pial basement membrane and disappearance of the glia limitans during development underlie the cortical lamination defect in the mouse model of muscle-eye-brain disease. (17206611)
2007
21
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. (17906881)
2007
22
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). (16458488)
2006
23
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. (16427280)
2006
24
Muscle-eye-brain disease. Presentation of one case with genetic study]. (15954036)
2005
25
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. (15466003)
2004
26
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. (15313851)
2004
27
Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features. (15938569)
2004
28
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (15121789)
2004
29
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. (12788071)
2003
30
Worldwide distribution and broader clinical spectrum of muscle-eye- brain disease. (12588800)
2003
31
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. (12219993)
2002
32
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. (11883957)
2002
33
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. (11320179)
2001
34
A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics. (11167293)
2001
35
Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease. (10677859)
2000
36
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. (9915951)
1999
37
Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients. (10726845)
1998
38
Muscle-eye-brain disease: a neuropathological study. (9029066)
1997
39
Muscle-eye-brain disease and Walker-Warburg syndrome: phenotype-genotype speculations. Commentary to Pihko's paper (pp. 57-61) (7762766)
1995
40
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. (7633187)
1995
41
Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. (1792864)
1991
42
Muscle-eye-brain disease (MEB) (2360704)
1990
43
Muscle-eye-brain disease and Walker-Warburg syndrome. (2363444)
1990
44
Muscle-eye-brain disease (MEB) (2751061)
1989

Variations for Muscle Eye Brain Disease

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Clinvar genetic disease variations for Muscle Eye Brain Disease:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1POMGNT1NM_017739.3(POMGNT1): c.1649G> A (p.Ser550Asn)SNVLikely pathogenic, Pathogenicrs193919335GRCh37Chr 1, 46656145: 46656145
2POMGNT1NM_017739.3(POMGNT1): c.1719delC (p.His573Glnfs)deletionLikely pathogenic, Pathogenicrs386834017GRCh38Chr 1, 46189920: 46189920
3POMGNT1NM_017739.3(POMGNT1): c.1324C> T (p.Arg442Cys)SNVPathogenicrs28940869GRCh37Chr 1, 46658069: 46658069
4POMGNT1NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln)SNVLikely pathogenic, Pathogenicrs193919336GRCh38Chr 1, 46193873: 46193873
5POMGNT1NM_017739.3(POMGNT1): c.652+1G> ASNVLikely pathogenic, Pathogenicrs386834035GRCh38Chr 1, 46194843: 46194843
6POMGNT1NM_017739.3(POMGNT1): c.1539+1G> ASNVLikely pathogenic, Pathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
7POMGNT1NM_017739.3(POMGNT1): c.1539+1G> TSNVPathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
8POMGNT1NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs)deletionLikely pathogenic, Pathogenicrs386834022GRCh37Chr 1, 46655149: 46655149
9POMGNT1NM_017739.3(POMGNT1): c.1895+1G> ASNVLikely pathogenic, Pathogenicrs386834024GRCh37Chr 1, 46655129: 46655129
10POMGNT1NM_017739.3(POMGNT1): c.643C> T (p.Arg215Ter)SNVLikely pathogenic, Pathogenicrs386834034GRCh37Chr 1, 46660525: 46660525
11POMGNT1NM_017739.3(POMGNT1): c.931C> T (p.Arg311Ter)SNVLikely pathogenic, Pathogenicrs386834039GRCh37Chr 1, 46659546: 46659546

Copy number variations for Muscle Eye Brain Disease from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
13220113440000051300000Copy numberPOMGNT1Muscle-eye-brain disease

Expression for genes affiliated with Muscle Eye Brain Disease

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Search GEO for disease gene expression data for Muscle Eye Brain Disease.

Pathways for genes affiliated with Muscle Eye Brain Disease

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GO Terms for genes affiliated with Muscle Eye Brain Disease

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Cellular components related to Muscle Eye Brain Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basal laminaGO:000560510.1LAMA2, LAMB2
2dystroglycan complexGO:001601110.1DAG1, SGCA
3basement membraneGO:00056049.9DAG1, LAMA2, LAMB2
4costamereGO:00430349.7DAG1, DMD
5dystrophin-associated glycoprotein complexGO:00160108.9DAG1, DMD, FKRP, SGCA
6sarcolemmaGO:00423838.6DAG1, DMD, FKRP, LAMA2, SGCA
7Golgi membraneGO:00001398.1B3GALNT2, B4GAT1, FKRP, FKTN, GCNT2, LARGE1
8integral component of membraneGO:00160216.8B3GALNT2, DAG1, FKRP, FKTN, GCNT2, MGAT1

Biological processes related to Muscle Eye Brain Disease according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cell wall mannoprotein biosynthetic processGO:000003210.7POMT1, POMT2
2glycoprotein biosynthetic processGO:000910110.6FKRP, LARGE1
3myelination in peripheral nervous systemGO:002201110.3DAG1, LAMA2
4Schwann cell developmentGO:001404410.1DAG1, LAMB2
5muscle cell cellular homeostasisGO:00467169.6DMD, LARGE1
6extracellular matrix organizationGO:00301989.1DAG1, LAMA2, LAMB2, POMT1
7protein O-linked glycosylationGO:00064938.9B3GALNT2, DAG1, LARGE1, POMGNT1, POMGNT2, POMK
8axon guidanceGO:00074118.8B4GAT1, ISPD, LAMA2, LAMB2
9muscle organ developmentGO:00075178.7DMD, FKTN, LAMA2, SGCA
10protein glycosylationGO:00064868.7B3GALNT2, B4GAT1, GCNT2, LARGE1, MGAT1
11protein O-linked mannosylationGO:00352698.0B4GAT1, FKRP, FKTN, ISPD, LARGE1, POMGNT2

Molecular functions related to Muscle Eye Brain Disease according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glucuronosyltransferase activityGO:001502010.2B4GAT1, LARGE1
2dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:000416910.2POMT1, POMT2
3N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activityGO:000853210.1B4GAT1, GCNT2
4transferase activityGO:001674010.1FKRP, FKTN
5vinculin bindingGO:00171669.5DAG1, DMD
6dystroglycan bindingGO:00021629.5DAG1, DMD
7acetylglucosaminyltransferase activityGO:00083759.5B3GALNT2, GCNT2, LARGE1, MGAT1, POMGNT2

Sources for Muscle Eye Brain Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet