MEB
MCID: MSC077
MIFTS: 57

Muscle Eye Brain Disease (MEB) 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, 27GTR, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Muscle Eye Brain Disease:

Name: Muscle Eye Brain Disease 48 68
Muscle-Eye-Brain Disease 48 24 54 50
Muscle-Eye-Brain Syndrome 54 27
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A3 48
 
Santavuori Congenital Muscular Dystrophy 54
Meb Syndrome 54
Meb Disease 24
Meb 48

Characteristics:

Orphanet epidemiological data:

54
muscle-eye-brain disease:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA588
UMLS via Orphanet69 C0457133

Summaries for Muscle Eye Brain Disease

About this section
NIH Rare Diseases:48 Muscle eye brain disease (meb) belongs to a group of genetic, degenerative muscular disorders that are present from birth (congenital muscular dystrophy). individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. they also have developmental delay and intellectual disability, a buildup of fluid in the brain (hydrocephalus), and distinctive facial features. this condition is caused by mutations in the pomgnt1 gene and is inherited in an autosomal recessive manner. although there is no specific treatment or cure for meb, there are ways to manage the symptoms. a team of doctors is often needed to figure out the treatment options for each person. last updated: 11/11/2016

MalaCards based summary: Muscle Eye Brain Disease, also known as muscle-eye-brain disease, is related to muscular dystrophy-dystroglycanopathy , type a, 9 and muscular dystrophy-dystroglycanopathy , type c, 1, and has symptoms including Array, Array and Array. 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 ECM proteoglycans. Affiliated tissues include eye, brain and cerebellum, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and muscle.

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 top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type a, 932.6DAG1, GMPPB, ISPD
2muscular dystrophy-dystroglycanopathy , type c, 131.3FKRP, FKTN, POMT1
3muscular dystrophy-dystroglycanopathy , type a, 111.7
4muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1111.6
5muscular dystrophy-dystroglycanopathy , type a, 311.5
6muscular dystrophy-dystroglycanopathy , type a, 711.5
7muscular dystrophy-dystroglycanopathy , type a, 1211.5
8muscular dystrophy-dystroglycanopathy , type a, 1311.5
9muscular dystrophy-dystroglycanopathy , type a, 1011.5
10muscular dystrophy-dystroglycanopathy , type a, 211.5
11muscular dystrophy-dystroglycanopathy , type a, 511.5
12muscular dystrophy-dystroglycanopathy , type a, 611.5
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 b, 110.7
22intrauterine growth retardation - mandibular malar hypoplasia10.3FKRP, FKTN
23asthma-related traits 610.2FKRP, SGCA
24orofacial cleft 1310.2GMPPB, POMGNT1
25nephronophthisis 2, infantile10.2FKRP, FKTN, POMT2
26short-rib thoracic dysplasia 8 with or without polydactyly10.2FKRP, GMPPB
27autosomal recessive limb-girdle muscular dystrophy type 2x10.2FKRP, SGCA
28eif2b1-related childhood ataxia with central nervous system hypomyelination/vanishing white matter10.1DMD, SGCA
29muscular dystrophy-dystroglycanopathy , type b, 1410.1GMPPB, ISPD
30rheumatoid arthritis, systemic juvenile10.1GMPPB, ISPD
31pancreatic agenesis 110.1DAG1, DMD, SGCA
32epileptic encephalopathy, early infantile, 410.1GMPPB, POMT1, POMT2
33dementia, frontotemporal10.1GMPPB, POMT1, POMT2
34myopathy, distal, with anterior tibial onset10.1DMD, FKRP, SGCA
35sdhc-related paraganglioma and gastric stromal sarcoma10.1DAG1, DMD, SGCA
36deafness, autosomal recessive 18b10.1FKRP, FKTN, POMT1, POMT2
37systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood10.1FKRP, FKTN, ISPD, POMT1
38coronary artery disease10.0FKRP, FKTN, LARGE1, POMGNT1, POMT1
39autosomal recessive limb-girdle muscular dystrophy type 2h10.0DMD, FKRP, POMT1, SGCA
40prosthetic joint infection10.0DMD, FKRP, POMT2, SGCA
41charcot-marie-tooth disease, type 2b210.0FKRP, LAMA2, POMGNT2
42walker-warburg syndrome10.0
43alk-positive large b-cell lymphoma9.9FKRP, GMPPB, LARGE1, POMT1, POMT2
44retinitis9.9
45cardiomyopathy, familial restrictive, 39.9DAG1, DMD, LAMA2
46lipodystrophy, familial partial, 29.9DAG1, DMD, LAMA2
47immunodeficiency 34, mycobacteriosis, x-linked9.9DAG1, DMD, SGCA
48muscular dystrophy9.8
49thrombocytopenia, x-linked9.8DMD, FKRP, LAMA2, SGCA
50autosomal recessive nonsyndromic deafness 479.8DAG1, DMD, FKTN, LAMA2

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



Diseases related to muscle eye brain disease

Symptoms & Phenotypes for Muscle Eye Brain Disease

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Human phenotypes related to Muscle Eye Brain Disease:

 54 64 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus64 54 Very frequent (99-80%) HP:0000238
2 strabismus64 54 Very frequent (99-80%) HP:0000486
3 glaucoma64 54 Very frequent (99-80%) HP:0000501
4 visual impairment64 54 Very frequent (99-80%) HP:0000505
5 cataract64 54 Frequent (79-30%) HP:0000518
6 myopia64 54 Very frequent (99-80%) HP:0000545
7 optic atrophy64 54 Very frequent (99-80%) HP:0000648
8 seizures64 54 Frequent (79-30%) HP:0001250
9 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
10 hypertonia64 54 Frequent (79-30%) HP:0001276
11 gait disturbance64 54 Very frequent (99-80%) HP:0001288
12 holoprosencephaly64 54 Occasional (29-5%) HP:0001360
13 abnormality of the voice64 54 Frequent (79-30%) HP:0001608
14 neurological speech impairment64 54 Very frequent (99-80%) HP:0002167
15 eeg abnormality64 54 Very frequent (99-80%) HP:0002353
16 meningocele64 54 Occasional (29-5%) HP:0002435
17 myopathy64 54 Very frequent (99-80%) HP:0003198
18 elevated serum creatine phosphokinase64 54 Very frequent (99-80%) HP:0003236
19 emg abnormality64 54 Very frequent (99-80%) HP:0003457
20 hemiplegia/hemiparesis64 54 Occasional (29-5%) HP:0004374
21 aplasia/hypoplasia of the cerebellum64 54 Occasional (29-5%) HP:0007360
22 abnormality of movement54 Frequent (79-30%)
23 cognitive impairment64 54 Very frequent (99-80%) HP:0100543

GenomeRNAi Phenotypes related to Muscle Eye Brain Disease according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.6GCNT2, LAMA2, POMGNT1

MGI Mouse Phenotypes related to Muscle Eye Brain Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.7B4GAT1, DAG1, DMD, FKRP, FKTN, LAMA2
2MP:00053877.5B4GAT1, DMD, FKRP, FKTN, GCNT2, LAMA2
3MP:00053867.0B4GAT1, DAG1, DMD, FKRP, FKTN, GCNT2
4MP:00053786.8DAG1, DMD, FKRP, FKTN, LAMA2, LAMB2
5MP:00053766.7B4GAT1, DAG1, DMD, FKRP, FKTN, GCNT2
6MP:00107686.4B4GAT1, DAG1, DMD, FKRP, FKTN, ISPD
7MP:00053846.0B4GAT1, DAG1, DMD, FKRP, FKTN, ISPD
8MP:00036315.7B4GAT1, DAG1, DMD, FKRP, FKTN, ISPD

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 188)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineapprovedPhase 480551-84-3187
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 428146-48-58969
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 46170288-86-76474909, 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 420161994-09-7, 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 42016
7Central Nervous System DepressantsPhase 4, Phase 213403
8Peripheral Nervous System AgentsPhase 4, Phase 223689
9Botulinum Toxins, Type APhase 4657
10Cholinergic AgentsPhase 43992
11Anesthetics, GeneralPhase 42934
12Adrenergic AgentsPhase 45352
13Anesthetics, InhalationPhase 4684
14AnestheticsPhase 49596
15incobotulinumtoxinAPhase 4662
16onabotulinumtoxinAPhase 4652
17abobotulinumtoxinAPhase 4652
18Neurotransmitter AgentsPhase 4, Phase 318340
19MydriaticsPhase 4811
20Autonomic AgentsPhase 410150
21AnthelminticsPhase 4446
22Adrenergic alpha-AntagonistsPhase 4739
23Lipoxygenase InhibitorsPhase 477
24Antiparasitic AgentsPhase 42199
25Anti-Infective AgentsPhase 422062
26Adrenergic AntagonistsPhase 41573
27YohimbeNutraceuticalPhase 428
28
Ropiniroleapproved, investigationalPhase 37491374-20-8, 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
Prednisoneapproved, vet_approvedPhase 3, Phase 2139853-03-25865
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
30
MethotrexateapprovedPhase 3, Phase 215511959-05-2, 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
31
DopamineapprovedPhase 3383651-61-6, 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
32
Modafinilapproved, investigationalPhase 319768693-11-84236
Synonyms:
2-((diphenylmethyl)sulfinyl)acetamide
Dea No. 1680
Modafinil
Modafinil [USAN:INN]
Modafinil [Usan:Inn]
Modafinilo
 
Modafinilo [Spanish]
Modafinilum
Modafinilum [Latin]
Moderateafinil
Modiodal
Provigil
Sparlon
modafinil
33
Armodafinilapproved, investigationalPhase 3197112111-43-0
Synonyms:
 
(–)-2-[(R)-(diphenylmethyl)sulfinyl]acetamide
R-modafinil
34
Folic Acidapproved, nutraceutical, vet_approvedPhase 3, Phase 2439259-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
35
leucovorinapproved, NutraceuticalPhase 3, Phase 2323558-05-954575, 6560146, 143
Synonyms:
(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate
(6R,S)-5-Formyltetrahydrofolate
10-Formyl-7,8-dihydrofolate
10-Formyl-7,8-dihydrofolic acid
5-Formyl-5,6,7,8-tetrahydrofolate
5-Formyl-5,6,7,8-tetrahydrofolic acid
5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid
5-Formyltetrahydrofolate
5-Formyltetrahydrofolic acid
5-Formyltetrahydropteroylglutamate
5-Formyltetrahydropteroylglutamic acid
5-formyltetrahydrofolic acid
Acide folinique
Calcium citrovorum factor
Calcium folinate
Citrovorum factor
Folinate
Folinic acid
Folinic acid calcium salt
 
Folinic acid calcium salt USP27
Folinic acid-SF
L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid
L-Leucovorin
L-N-[p-[[(2-Amino-5-formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-Glutamic acid
L-leucovorin
Leucal
Leucovorin calcium
Leucovorin folinic acid
Leucovorinum
Leukovorin
Levoleucovorin
N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid
N5-Formyl-5,6,7,8-tetrahydrofolate
N5-Formyl-5,6,7,8-tetrahydrofolic acid
N5-Formyl-THF
N5-Formyltetrahydrofolate
N5-Formyltetrahydrofolic acid
Welcovorin
Wellcovorin
folinate
36Hormone AntagonistsPhase 3, Phase 213180
37Nucleic Acid Synthesis InhibitorsPhase 3, Phase 24962
38HormonesPhase 3, Phase 214415
39glucocorticoidsPhase 3, Phase 25103
40Immunosuppressive AgentsPhase 3, Phase 213086
41Vitamin B ComplexPhase 3, Phase 24337
42Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 213168
43N 0437Phase 388
44Anti-Inflammatory AgentsPhase 3, Phase 210729
45Dopamine agonistsPhase 3632
46Folic Acid AntagonistsPhase 3, Phase 22257
47Antiparkinson AgentsPhase 31574
48AntimetabolitesPhase 3, Phase 212054
49Dopamine AgentsPhase 33836
50Dermatologic AgentsPhase 3, Phase 25806

Interventional clinical trials:

(show top 50)    (show all 103)
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
7An Efficacy and Safety Study of Tocilizumab (RoActemra/Actemra) in Participants With Giant Cell Arteritis (GCA)Active, not recruitingNCT01791153Phase 3
8Modafinil to Treat Fatigue in Post-Polio SyndromeTerminatedNCT00067496Phase 3
9A Clinical Trial to Study the Safety and Efficacy of Bone Marrow Derived Autologous Cell for the Treatment of Stroke.Unknown statusNCT01832428Phase 1, Phase 2
10Functional Neuroimaging in Fibromyalgia Patients Receiving tDCSUnknown statusNCT01904097Phase 2
11Eye Muscle Surgery to Treat Congenital NystagmusCompletedNCT00001866Phase 2
12A Comparison of an Implanted Neuroprosthesis With Sensory Training for Improving Airway Protection in Chronic DysphagiaCompletedNCT00376506Phase 2
13Effects of Rapid-Resisted Exercise and Bright Light Therapy on Ambulatory Adults With Traumatic Brain InjuryCompletedNCT01175993Phase 1, Phase 2
14Brain Stimulation to Treat Blepharospasm or Meige SyndromeCompletedNCT00411255Phase 2
15Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) to Treat Progressive Supranuclear PalsyCompletedNCT00005903Phase 2
16High-Dose Intravenous Immunoglobulin to Treat Cerebellar DegenerationCompletedNCT00034242Phase 2
17Volitional Swallowing in Stroke Patients With Chronic DysphagiaCompletedNCT00306501Phase 2
18Daclizumab to Treat Wegener's GranulomatosisCompletedNCT00040248Phase 2
19Steroids and Methotrexate to Treat Systemic VasculitisCompletedNCT00001256Phase 2
20Simvastatin Therapy in Smith-Lemli-Opitz SyndromeCompletedNCT00064792Phase 2
21Mexiletine for the Treatment of Focal DystoniaCompletedNCT00001784Phase 2
22Irinotecan in Treating Children With Refractory Solid TumorsCompletedNCT00004078Phase 2
23Oxaliplatin in Treating Young Patients With Recurrent Solid Tumors That Have Not Responded to Previous TreatmentCompletedNCT00091182Phase 2
24The KHENERGY StudyRecruitingNCT02909400Phase 2
25Inflammation Inhibition in Prediabetic HumansActive, not recruitingNCT01977417Phase 2
26The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Years Old Strabismic PatientsUnknown statusNCT00917982Phase 1
27Effects of Direct Current Brain Stimulation on CognitionCompletedNCT00048698Phase 1
28Therapeutic Riding and Neuromuscular DiseaseCompletedNCT01621984Phase 1
29Flavopiridol in Treating Children With Relapsed or Refractory Solid Tumors or LymphomasCompletedNCT00012181Phase 1
30Oxaliplatin and Irinotecan in Treating Young Patients With Refractory Solid Tumors or LymphomasCompletedNCT00101270Phase 1
31Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal NeuropathyRecruitingNCT02362438Phase 1
32Inhibitory rTMS in Dystonic Wilson PatientsUnknown statusNCT01980433
33Influence of Oxytocin on the Startle Reflex and on Its ModulationUnknown statusNCT01066299
34Biomarkers of Social Sensitivity in Major DepressionUnknown statusNCT02214511
35Eye-Hand Coordination in Children With Spastic DiplegiaCompletedNCT00024791
36Abnormal Movements, Cerebellum and Sensorimotor : Oculomotor StudyCompletedNCT01495897
37Brain Activation in Vocal and Motor TicsCompletedNCT00026000
38Brain Imaging in the Idiopathic REM Sleep Behavior Disorder (ALICE)CompletedNCT03072940
39Effect of Combined Therapy on Neglect Syndrome in Stroke PatientsCompletedNCT00784706
40Brain Dynamics Involved in Generating Tics and Controlling Voluntary MovementCompletedNCT00056420
41Data Collection in Women With Fabry DiseaseCompletedNCT00030134
42Tactile Learning in Stroke PatientsCompletedNCT00283881
43Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A ActivityCompletedNCT00106912
44Brain Control of BlinkingCompletedNCT00030199
45Thyroid Treatment TrialCompletedNCT00348413
46Brain Use of Sensory Information to Generate MovementCompletedNCT00055289
47Aquatic Therapy Versus Land-Based Therapy for the Treatment of Balance Dysfunction in Parkinson's DiseaseCompletedNCT02701621
48Transcranial Direct Current Stimulation to Improve Hand Movement in Stroke PatientsCompletedNCT00307385
49Motor Performance in Chronic Stroke PatientsCompletedNCT00110175
50Physiologic Studies of SpasticityCompletedNCT00014976

Search NIH Clinical Center for Muscle Eye Brain Disease

Genetic Tests for Muscle Eye Brain Disease

About this section

Genetic tests related to Muscle Eye Brain Disease:

id Genetic test Affiliating Genes
1 Muscle Eye Brain Disease27
2 Muscle-Eye-Brain Disease24

Anatomical Context for Muscle Eye Brain Disease

About this section

MalaCards organs/tissues related to Muscle Eye Brain Disease:

36
Eye, Brain, Cerebellum, Cortex

Publications for Muscle Eye Brain Disease

About this section

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 Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease: A Novel Mutation in the POMGNT1 Gene. (24282183)
2014
4
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. (24731844)
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
RPTPIP/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. (22728091)
2012
9
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. (22554691)
2012
10
Biochemical correlation of activity of the I+-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. (21361872)
2011
11
Multiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease. (21403000)
2011
12
Teaching neuroimages: prenatal MRI of muscle-eye-brain disease. (20513809)
2010
13
Muscle-Eye-Brain disease. (20215985)
2010
14
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. (20934392)
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
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. (17906881)
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
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
20
Prenatal diagnosis of muscle-eye-brain disease. (17154333)
2007
21
Ectopia of meningeal fibroblasts and reactive gliosis in the cerebral cortex of the mouse model of muscle-eye-brain disease. (17924568)
2007
22
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. (16427280)
2006
23
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). (16458488)
2006
24
Muscle-eye-brain disease. Presentation of one case with genetic study]. (15954036)
2005
25
Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features. (15938569)
2004
26
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. (15313851)
2004
27
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (15121789)
2004
28
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. (15466003)
2004
29
Worldwide distribution and broader clinical spectrum of muscle-eye- brain disease. (12588800)
2003
30
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. (12788071)
2003
31
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. (11883957)
2002
32
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. (12219993)
2002
33
A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics. (11167293)
2001
34
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. (11320179)
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 and Walker-Warburg syndrome. (2363444)
1990
43
Muscle-eye-brain disease (MEB) (2360704)
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 57)
id Gene Variation Type Significance SNP ID Assembly Location
1POMGNT1NM_ 017739.3(POMGNT1): c.1011dupT (p.Asp338Terfs)duplicationLikely pathogenicrs751254522GRCh37Chr 1, 46659251: 46659251
2POMGNT1NM_ 017739.3(POMGNT1): c.879+2T> CSNVLikely pathogenicrs1057516318GRCh38Chr 1, 46194272: 46194272
3POMGNT1NM_ 017739.3(POMGNT1): c.1284+2_ 1284+19del18deletionLikely pathogenicrs1057516409GRCh38Chr 1, 46192499: 46192516
4POMGNT1NM_ 017739.3(POMGNT1): c.236-1G> TSNVLikely pathogenicrs1057516477GRCh37Chr 1, 46662522: 46662522
5POMGNT1NM_ 001243766.1(POMGNT1): c.60_ 63delCTGGinsGTGA (p.Ser20_ Trp21delinsArgTer)indelLikely pathogenicrs1057516478GRCh38Chr 1, 46197759: 46197762
6POMGNT1NM_ 017739.3(POMGNT1): c.1027-2_ 1027-1delAGdeletionLikely pathogenicrs1057516536GRCh38Chr 1, 46193389: 46193390
7POMGNT1NM_ 017739.3(POMGNT1): c.1538_ 1539+2delACGTdeletionLikely pathogenicrs1057516576GRCh38Chr 1, 46192096: 46192099
8POMGNT1NM_ 017739.3(POMGNT1): c.1741_ 1745delATGGA (p.Met581Glufs)deletionLikely pathogenicrs749332339GRCh38Chr 1, 46189894: 46189898
9POMGNT1NM_ 017739.3(POMGNT1): c.880-2A> GSNVLikely pathogenicrs1057516830GRCh37Chr 1, 46659599: 46659599
10POMGNT1NM_ 017739.3(POMGNT1): c.121-2A> GSNVLikely pathogenicrs1057516871GRCh37Chr 1, 46662758: 46662758
11POMGNT1NM_ 017739.3(POMGNT1): c.1694_ 1695delCT (p.Ser565Phefs)deletionLikely pathogenicrs1057516903GRCh38Chr 1, 46189944: 46189945
12POMGNT1NM_ 017739.3(POMGNT1): c.987delT (p.Pro330Leufs)deletionLikely pathogenicrs1057516955GRCh38Chr 1, 46193603: 46193603
13POMGNT1NM_ 017739.3(POMGNT1): c.1695_ 1698delTTTC (p.Phe566Cysfs)deletionLikely pathogenicrs1057516986GRCh38Chr 1, 46189941: 46189944
14POMGNT1NM_ 017739.3(POMGNT1): c.185_ 186insA (p.Arg63Alafs)insertionLikely pathogenicrs1057517153GRCh38Chr 1, 46197019: 46197020
15POMGNT1NM_ 017739.3(POMGNT1): c.875delA (p.Asp292Alafs)deletionLikely pathogenicrs1057517247GRCh37Chr 1, 46659950: 46659950
16POMGNT1NM_ 017739.3(POMGNT1): c.1786-2A> GSNVLikely pathogenicrs1057517340GRCh38Chr 1, 46189569: 46189569
17POMGNT1NM_ 017739.3(POMGNT1): c.478delA (p.Met160Trpfs)deletionLikely pathogenicrs1057517355GRCh38Chr 1, 46195867: 46195867
18POMGNT1NM_ 017739.3(POMGNT1): c.1113delC (p.Tyr372Thrfs)deletionLikely pathogenicrs1057517369GRCh38Chr 1, 46193213: 46193213
19POMGNT1NM_ 017739.3(POMGNT1): c.1562delA (p.Lys521Serfs)deletionLikely pathogenicrs1057517422GRCh38Chr 1, 46190762: 46190762
20POMGNT1NM_ 017739.3(POMGNT1): c.354+1G> ASNVLikely pathogenicrs1057517449GRCh37Chr 1, 46662402: 46662402
21POMGNT1NM_ 017739.3(POMGNT1): c.1649G> A (p.Ser550Asn)SNVPathogenic/ Likely pathogenicrs193919335GRCh37Chr 1, 46656145: 46656145
22POMGNT1NM_ 017739.3(POMGNT1): c.1719delC (p.His573Glnfs)deletionPathogenic/ Likely pathogenicrs386834017GRCh38Chr 1, 46189920: 46189920
23POMGNT1NM_ 017739.3(POMGNT1): c.1324C> T (p.Arg442Cys)SNVPathogenicrs28940869GRCh37Chr 1, 46658069: 46658069
24POMGNT1NM_ 001243766.1(POMGNT1): c.932G> A (p.Arg311Gln)SNVPathogenic/ Likely pathogenicrs193919336GRCh38Chr 1, 46193873: 46193873
25POMGNT1NM_ 017739.3(POMGNT1): c.652+1G> ASNVPathogenic/ Likely pathogenicrs386834035GRCh38Chr 1, 46194843: 46194843
26POMGNT1NM_ 017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr)SNVPathogenic/ Likely pathogenicrs267606960GRCh37Chr 1, 46657840: 46657840
27POMGNT1NM_ 017739.3(POMGNT1): c.1274G> C (p.Trp425Ser)SNVLikely pathogenicrs386834011GRCh37Chr 1, 46658200: 46658200
28POMGNT1NM_ 017739.3(POMGNT1): c.1319T> G (p.Leu440Arg)SNVLikely pathogenicrs386834013GRCh37Chr 1, 46658074: 46658074
29POMGNT1NM_ 017739.3(POMGNT1): c.1342G> C (p.Gly448Arg)SNVLikely pathogenicrs386834014GRCh37Chr 1, 46658051: 46658051
30POMGNT1NM_ 017739.3(POMGNT1): c.1350_ 1354delCTGGG (p.Trp451Alafs)deletionPathogenic/ Likely pathogenicrs386834015GRCh37Chr 1, 46658039: 46658043
31POMGNT1NM_ 017739.3(POMGNT1): c.1539+1G> ASNVPathogenic/ Likely pathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
32POMGNT1NM_ 017739.3(POMGNT1): c.1539+1G> TSNVPathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
33POMGNT1NM_ 017739.3(POMGNT1): c.1540-2A> GSNVLikely pathogenicrs386834016GRCh37Chr 1, 46656458: 46656458
34POMGNT1NM_ 017739.3(POMGNT1): c.1738C> T (p.Arg580Ter)SNVLikely pathogenicrs386834018GRCh37Chr 1, 46655573: 46655573
35POMGNT1NM_ 017739.3(POMGNT1): c.1769G> A (p.Trp590Ter)SNVLikely pathogenicrs386834019GRCh37Chr 1, 46655542: 46655542
36POMGNT1NM_ 017739.3(POMGNT1): c.1785+2T> GSNVLikely pathogenicrs386834020GRCh37Chr 1, 46655524: 46655524
37POMGNT1NM_ 017739.3(POMGNT1): c.1814G> A (p.Arg605His)SNVLikely pathogenicrs267606962GRCh37Chr 1, 46655211: 46655211
38POMGNT1NM_ 017739.3(POMGNT1): c.1864delC (p.Leu622Trpfs)deletionLikely pathogenicrs386834021GRCh37Chr 1, 46655161: 46655161
39POMGNT1NM_ 017739.3(POMGNT1): c.1876delG (p.Val626Serfs)deletionPathogenic/ Likely pathogenicrs386834022GRCh37Chr 1, 46655149: 46655149
40POMGNT1NM_ 017739.3(POMGNT1): c.1895+1G> ASNVPathogenic/ Likely pathogenicrs386834024GRCh37Chr 1, 46655129: 46655129
41POMGNT1NM_ 017739.3(POMGNT1): c.1895+1_ 1895+4delGTGAdeletionLikely pathogenicrs386834023GRCh37Chr 1, 46655126: 46655129
42POMGNT1NM_ 017739.3(POMGNT1): c.1896-1G> CSNVLikely pathogenicrs386834025GRCh37Chr 1, 46655030: 46655030
43POMGNT1NM_ 017739.3(POMGNT1): c.1928delT (p.Phe643Serfs)deletionLikely pathogenicrs386834026GRCh37Chr 1, 46654997: 46654997
44POMGNT1NM_ 017739.3(POMGNT1): c.25dupC (p.Leu9Profs)duplicationLikely pathogenicrs386834027GRCh37Chr 1, 46663469: 46663469
45POMGNT1NM_ 017739.3(POMGNT1): c.351delC (p.Thr118Argfs)deletionLikely pathogenicrs386834028GRCh37Chr 1, 46662406: 46662406
46POMGNT1NM_ 017739.3(POMGNT1): c.447delT (p.Phe149Leufs)deletionLikely pathogenicrs386834029GRCh37Chr 1, 46661570: 46661570
47POMGNT1NM_ 017739.3(POMGNT1): c.526A> C (p.Thr176Pro)SNVLikely pathogenicrs386834030GRCh37Chr 1, 46661491: 46661491
48POMGNT1NM_ 017739.3(POMGNT1): c.593delG (p.Ser198Thrfs)deletionLikely pathogenicrs386834031GRCh37Chr 1, 46660575: 46660575
49POMGNT1NM_ 017739.3(POMGNT1): c.594C> G (p.Ser198Arg)SNVLikely pathogenicrs386834032GRCh37Chr 1, 46660574: 46660574
50POMGNT1NM_ 017739.3(POMGNT1): c.630G> T (p.Trp210Cys)SNVLikely pathogenicrs386834033GRCh37Chr 1, 46660538: 46660538
51POMGNT1NM_ 017739.3(POMGNT1): c.643C> T (p.Arg215Ter)SNVPathogenic/ Likely pathogenicrs386834034GRCh37Chr 1, 46660525: 46660525
52POMGNT1NM_ 017739.3(POMGNT1): c.667G> A (p.Glu223Lys)SNVLikely pathogenicrs386834036GRCh37Chr 1, 46660309: 46660309
53POMGNT1NM_ 017739.3(POMGNT1): c.806G> A (p.Cys269Tyr)SNVLikely pathogenicrs386834037GRCh37Chr 1, 46660019: 46660019
54POMGNT1NM_ 017739.3(POMGNT1): c.879+5G> ASNVLikely pathogenicrs386834038GRCh37Chr 1, 46659941: 46659941
55POMGNT1NM_ 017739.3(POMGNT1): c.879+5G> TSNVLikely pathogenicrs386834038GRCh37Chr 1, 46659941: 46659941
56POMGNT1NM_ 017739.3(POMGNT1): c.931C> T (p.Arg311Ter)SNVPathogenic/ Likely pathogenicrs386834039GRCh37Chr 1, 46659546: 46659546
57POMGNT1NM_ 017739.3(POMGNT1): c.982dupG (p.Val328Glyfs)duplicationLikely pathogenicrs386834040GRCh37Chr 1, 46659280: 46659280

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:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1dystroglycan complexGO:001601110.7DAG1, SGCA
2basal laminaGO:000560510.7LAMA2, LAMB2
3costamereGO:004303410.6DAG1, DMD
4basement membraneGO:000560410.4DAG1, LAMA2, LAMB2
5dystrophin-associated glycoprotein complexGO:001601010.1DAG1, DMD, FKRP, SGCA
6endoplasmic reticulumGO:00057839.1B3GALNT2, FKRP, FKTN, POMGNT2, POMK, POMT1
7sarcolemmaGO:00423838.9DAG1, DMD, FKRP, LAMA2, SGCA
8Golgi apparatusGO:00057948.3B3GALNT2, B4GAT1, FKRP, FKTN, GCNT2, LARGE1
9Golgi membraneGO:00001398.3B3GALNT2, B4GAT1, FKRP, FKTN, GCNT2, LARGE1
10integral component of membraneGO:00160216.1B3GALNT2, B4GAT1, DAG1, FKRP, FKTN, GCNT2
11membraneGO:00160205.4B3GALNT2, B4GAT1, DAG1, DMD, FKRP, FKTN

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1glycoprotein biosynthetic processGO:000910110.7FKRP, LARGE1
2ER-associated misfolded protein catabolic processGO:007171210.7POMT1, POMT2
3mannosylationGO:009750210.6POMT1, POMT2
4positive regulation of protein O-linked glycosylationGO:190410010.6POMT1, POMT2
5muscle cell cellular homeostasisGO:004671610.4DMD, LARGE1
6Schwann cell developmentGO:001404410.3DAG1, LAMB2
7Schwann cell differentiationGO:001403710.3DAG1, LAMA2
8extracellular matrix organizationGO:003019810.0DAG1, LAMA2, LAMB2, POMT1
9response to denervation involved in regulation of muscle adaptationGO:00148949.8DAG1, DMD, SGCA
10muscle organ developmentGO:00075179.8DMD, FKTN, LAMA2, SGCA
11axon guidanceGO:00074119.5B4GAT1, ISPD, LAMA2, LAMB2
12skeletal muscle tissue regenerationGO:00434039.2DAG1, DMD, LARGE1, SGCA
13protein O-linked glycosylationGO:00064937.9B3GALNT2, B4GAT1, DAG1, LARGE1, POMGNT1, POMGNT2
14protein O-linked mannosylationGO:00352697.9B4GAT1, FKRP, FKTN, ISPD, LARGE1, POMGNT2
15protein glycosylationGO:00064866.8B3GALNT2, B4GAT1, FKRP, FKTN, GCNT2, ISPD

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

idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:000416910.8POMT1, POMT2
2dystroglycan bindingGO:000216210.5DAG1, DMD
3vinculin bindingGO:00171669.8DAG1, DMD
4acetylglucosaminyltransferase activityGO:00083759.5B3GALNT2, GCNT2, LARGE1, MGAT1, POMGNT1, POMGNT2
5transferase activity, transferring glycosyl groupsGO:00167578.0B3GALNT2, B4GAT1, GCNT2, LARGE1, MGAT1, POMGNT1
6transferase activityGO:00167406.4B3GALNT2, B4GAT1, FKRP, FKTN, GCNT2, GMPPB

Sources for Muscle Eye Brain Disease

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