FRAX
MCID: FRG001
MIFTS: 69

Fragile X Syndrome (FRAX) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs

Aliases & Classifications for Fragile X Syndrome

About this section
Sources:
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 37MedGen, 38MedlinePlus, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Fragile X Syndrome:

Name: Fragile X Syndrome 52 11 71 48 24 25 54 70 12 50 38 2 39 13 68
Martin-Bell Syndrome 11 48 24 25 54
Fraxe Syndrome 48 24 25 50 68
Fraxa Syndrome 48 25 54 50 68
Fxs 48 24 25 54 2
Marker X Syndrome 11 48 24 25
X-Linked Mental Retardation and Macroorchidism 71 48 25
Fragile Xe Syndrome 48 25 27
X-Linked Mental Retardation Associated with Fragile Site Fraxe 48 24
Fragile X Mental Retardation Syndrome 52 11
Fraxe Mental Retardation Syndrome 24 25
Fra Syndrome 48 25
 
Frax 70 27
Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 25
Symptomatic Form of Fragile X Syndrome in Female Carrier 54
X-Linked Mental Retardation and Macro-Orchidism 48
Mental Retardation, X-Linked, Fraxe Type 25
Fraxe Intellectual Disability 25
Fragile Site, Folic Acid Type 48
Fragile X Mental Retardation 24
Fraxe Intellectual Deficit 25
Frax Syndrome 54
Fraxa 24

Characteristics:

Orphanet epidemiological data:

54
fragile x syndrome:
Inheritance: X-linked dominant; Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe),1-9/100000 (United States),1-9/100000 (France),1-5/10000 (Spain),1-5/10000 (Canada); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy
symptomatic form of fragile x syndrome in female carrier:
Inheritance: X-linked dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
fragile x syndrome:
Inheritance: x-linked dominant inheritance
Onset and clinical course: incomplete penetrance

Classifications:

MalaCards categories:
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Mental diseases
See all MalaCards categories (disease lists)
ICD10: 31 30
Orphanet: 54 
Rare neurological diseases
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM52 300624
Disease Ontology11 DOID:14261
ICD1030 Q99.2
ICD9CM32 759.83
MeSH39 D005600
NCIt45 C84717
SNOMED-CT62 390007001, 613003
ICD10 via Orphanet31 Q99.2
MESH via Orphanet40 D005600
UMLS via Orphanet69 C0016667, C0751156

Summaries for Fragile X Syndrome

About this section
MedlinePlus:38 Fragile x syndrome is the most common form of inherited developmental disability. a problem with a specific gene causes the disease. normally, the gene makes a protein you need for brain development. but the problem causes a person to make little or none of the protein. this causes the symptoms of fragile x. people with only a small change in the gene might not show any signs of fragile x. people with bigger changes can have severe symptoms. these might include intelligence problems, ranging from learning disabilities to severe intellectual disabilities social and emotional problems, such as aggression in boys or shyness in girls speech and language problems, especially in boys a genetic blood test can diagnose fragile x. there is no cure. you can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. getting treatment early can help. nih: national institute of child health and human development

MalaCards based summary: Fragile X Syndrome, also known as martin-bell syndrome, is related to autism spectrum disorder and fragile x syndrome type 1, and has symptoms including seizures, seizures and joint laxity. An important gene associated with Fragile X Syndrome is FMR1 (Fragile X Mental Retardation 1), and among its related pathways are GPCRs, Class C Metabotropic glutamate, pheromone and ERK Pathway in Huntingtons Disease. Affiliated tissues include brain, testes and eye, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and endocrine/exocrine gland.

NIH Rare Diseases:48 Fragile x syndrome is a genetic condition involving changes in part of the x chromosome. this condition causes a range of developmental problems including learning disabilities and cognitive impairment. it is the most common form of inherited intellectual disability in males and a significant cause of intellectual disability in females. other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features. fragile x syndrome is caused by a change (mutation) in the fmr1 gene and is inherited in an x-linked dominant manner. there is no cure yet and treatment is based on the symptoms present in the person. early physical and education therapy is recommended. last updated: 5/12/2016

UniProtKB/Swiss-Prot:70 Fragile X syndrome: Common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region.

Genetics Home Reference:25 Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.

OMIM:52 Fragile X mental retardation is characterized by moderate to severe mental retardation, macroorchidism, and distinct... (300624) more...

Disease Ontology:11 An X-linked disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has material basis in X-linked inheritance and a loss of FMR1 function.

Wikipedia:71 Fragile X syndrome (FXS) is a genetic disorder. Symptoms often include mild to moderate intellectual... more...

Related Diseases for Fragile X Syndrome

About this section

Diseases in the Fragile X Syndrome family:

Fragile X Syndrome Type 1 Fragile X Syndrome Type 2
Fragile X Syndrome Type 3

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

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1autism spectrum disorder30.2AFF2, BDNF, FMR1, FXR1, FXR2, MECP2
2fragile x syndrome type 111.9
3fragile x syndrome type 211.9
4fragile x syndrome type 311.9
5fragile x tremor/ataxia syndrome11.5
6intellectual disability11.2
7bone fracture11.0
8mental retardation, x-linked, fraxe type10.8
9down syndrome10.2
10hypomyelinating leukoencephalopathy10.2FMR1, GRM5
11ataxia10.2
12neuronitis10.1
13tremor10.1
14epilepsy10.1
15y-linked disease10.1AFF2, FMR1, FXR1, FXR2, GRM5
16angular cheilitis10.1AFF2, FMR1, MECP2
17secondary progressive multiple sclerosis10.0AFF2, FMR1, MECP2, TSPAN7
18fragile x-associated tremor/ataxia syndrome10.0
19premature ovarian failure10.0
20personality disorder10.0BDNF, FMR1, GRM5, MECP2, SLC6A4
21sexual disorder10.0BDNF, EIF4E, FMR1, MECP2, SLC6A4
22learning disability9.9
23epithelioid type angiomyolipoma9.9BDNF, GRM1, GRM5, SLC6A4
24paraphilia disorder9.9AFF2, BDNF, FMR1, MECP2, SLC6A4
25colorectal cancer9.9
26prader-willi syndrome9.9
27turner syndrome9.9
28myotonic dystrophy9.9
29ellis-van creveld syndrome9.9BDNF, FMR1, MECP2, SLC6A4
30attention deficit-hyperactivity disorder9.8
31friedreich ataxia9.8
32neurofibromatosis, type 19.8
33stuttering9.8
34anxiety disorder9.8
35cerebritis9.8
36neurofibromatosis9.8
37muscular dystrophy9.8
38hepatocellular carcinoma9.7
39factor x deficiency9.7
40medulloblastoma9.6
41obesity9.6
42achondroplasia9.6
43cherubism9.6
44testicular microlithiasis9.6
45williams-beuren syndrome9.6
46werner syndrome9.6
47otitis media9.6
48costello syndrome9.6
49angelman syndrome9.6
50smith-magenis syndrome9.6

Graphical network of the top 20 diseases related to Fragile X Syndrome:



Diseases related to fragile x syndrome

Symptoms & Phenotypes for Fragile X Syndrome

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Symptoms by clinical synopsis from OMIM:

300624

Clinical features from OMIM:

300624

Human phenotypes related to Fragile X Syndrome:

 54 64 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroorchidism64 54 Very frequent (99-80%) HP:0000053
2 sinusitis64 54 Frequent (79-30%) HP:0000246
3 macrocephaly64 54 Frequent (79-30%) HP:0000256
4 narrow face64 54 Frequent (79-30%) HP:0000275
5 long face64 54 Frequent (79-30%) HP:0000276
6 mandibular prognathia64 54 Frequent (79-30%) HP:0000303
7 otitis media54 Frequent (79-30%)
8 chronic otitis media64 54 Very frequent (99-80%) HP:0000389
9 protruding ear64 54 Frequent (79-30%) HP:0000411
10 strabismus64 54 Occasional (29-5%) HP:0000486
11 autism64 54 Occasional (29-5%) HP:0000717
12 anxiety64 54 Occasional (29-5%) HP:0000739
13 seizures64 54 Occasional (29-5%) HP:0001250
14 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
15 joint laxity64 54 Very frequent (99-80%) HP:0001388
16 mitral valve prolapse64 54 Occasional (29-5%) HP:0001634
17 pes planus64 54 Very frequent (99-80%) HP:0001763
18 large forehead64 54 Frequent (79-30%) HP:0002003
19 frontal bossing64 54 Frequent (79-30%) HP:0002007
20 gastroesophageal reflux64 54 Frequent (79-30%) HP:0002020
21 cerebral cortical atrophy64 54 Occasional (29-5%) HP:0002120
22 neurological speech impairment64 54 Very frequent (99-80%) HP:0002167
23 intellectual disability, moderate64 54 Very frequent (99-80%) HP:0002342
24 folate-dependent fragile site at xq2864 54 Very frequent (99-80%) HP:0003564
25 dilatation of the ascending aorta64 54 Occasional (29-5%) HP:0005111
26 attention deficit hyperactivity disorder64 54 Frequent (79-30%) HP:0007018
27 self-injurious behavior64 54 Occasional (29-5%) HP:0100716
28 coarse facial features64 HP:0000280
29 macrotia64 HP:0000400
30 hyperactivity64 HP:0000752
31 pectus excavatum64 HP:0000767
32 poor eye contact64 HP:0000817
33 macroorchidism, postpubertal64 HP:0002050
34 abnormal head movements64 HP:0002457
35 scoliosis64 HP:0002650
36 periventricular gray matter heterotopia64 HP:0007165
37 congenital macroorchidism64 HP:0008640

UMLS symptoms related to Fragile X Syndrome:


seizures, joint laxity, abnormal head movements, agitation

GenomeRNAi Phenotypes related to Fragile X Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-19210.6EIF4E, FXR2, GRM5

MGI Mouse Phenotypes related to Fragile X Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.6BDNF, DICER1, FMR1, FXR1, GRM5, MECP2
2MP:00107719.1BDNF, DICER1, FMR1, FXR2, GRIA1, GRM1
3MP:00053898.7BDNF, DICER1, FMR1, FXR1, FXR2, GRM1
4MP:00036318.6BDNF, CYFIP1, CYFIP2, DICER1, FMR1, FXR2
5MP:00053868.3BDNF, CYFIP1, CYFIP2, DICER1, FMR1, FXR1

Drugs & Therapeutics for Fragile X Syndrome

About this section

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

(show top 50)    (show all 94)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopamineapprovedPhase 4383651-61-6, 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
2
Riluzoleapproved, investigationalPhase 4651744-22-55070
Synonyms:
1744-22-5
2-Amino-6-(trifluoromethoxy)-benzothiazole
2-Amino-6-(trifluoromethoxy)benzothiazole
2-Amino-6-trifluoro- methoxybenzothiazole
2-amino-6-(trifluoromethoxy)-1,3-benzothiazole
2-amino-6-(trifluoromethoxy)benzo[d]thiazole
2-amino-6-(trifluoromethoxyl)benzothiazole
2-amino-6-trifluoromethoxybenzothiazole
6-(trifluoromethoxy)-1,3-benzothiazol-2-amine
6-(trifluoromethoxy)benzo[d]thiazol-2-amine
6-Trifluoromethoxy-benzothiazol-2-ylamine
6-trifluoromethoxybenzothiazole-2-yl-amine
AC-730
AC1L1JJL
AC1Q530H
AKOS000265071
ALBB-006046
Amino-2 trifluoromethoxy-6 benzothiazole
Amino-2 trifluoromethoxy-6 benzothiazole [French]
BB_SC-4839
BF-37
BIDD:GT0055
BPBio1_000037
BPBio1_000837
BRD-K21283037-001-02-5
BRD-K21283037-003-03-9
BSPBio_000033
Bio1_000416
Bio1_000905
Bio1_001394
Biomol-NT_000245
C07937
C8H5F3N2OS
CHEMBL744
CID5070
D00775
DB00740
EU-0101064
FT-0082997
HMS1773G08
HMS2089O19
HMS2094G07
I01-2084
LS-40688
 
Lopac-R-116
Lopac0_001064
MLS000069369
MolPort-000-151-262
NCGC00015882-01
NCGC00015882-02
NCGC00015882-03
NCGC00015882-07
NCGC00015882-11
NCGC00023141-02
NCGC00023141-04
NCGC00023141-05
NCGC00023141-06
PK-26124
PK-26124, RP-54274, Rilutek, Riluzole
Prestwick-03A08
Prestwick0_000167
Prestwick1_000167
Prestwick2_000167
Prestwick3_000167
R-116
R116_SIGMA
RP 54274
RP-54274
Rilutek
Rilutek (TN)
Riluzol
Riluzol [INN-Spanish]
Riluzole
Riluzole (JAN/USAN/INN)
Riluzole HCl
Riluzole [USAN:INN]
Riluzolum
Riluzolum [INN-Latin]
S1614_Selleck
SMR000058231
SPBio_000599
SPBio_001954
STK503686
Spectrum2_000550
Tocris-0768
UNII-7LJ087RS6F
ZERO/001785
ZINC00006481
riluzole
3
Risperidoneapproved, investigationalPhase 4492106266-06-25073
Synonyms:
106266-06-2
3-(2-(4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperidino)ethyl)-6,7,8,9-tetrahydro-2-methyl-4H-pyrido(1,2-a)pyrimidin-4-one
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydro-pyrido[
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-[2-[-4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido [1,2-a] pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperi-dino]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]-pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-{2-[4-(6-Fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl}-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
AB00514010
AC-1306
AC1L1JJU
BIDD:GT0262
BRD-K53857191-001-04-5
BRN 4891881
Belivon
Bio-0092
Buspirone
C23H27FN4O2
CAS-106266-06-2
CHEBI:8871
CHEMBL85
CID5073
CPD000466323
Consta, Risperdal
D00426
D018967
DB00734
EU-0101074
HMS1571M19
HMS2051H07
HMS2089C22
HSDB 7580
I01-1156
Jsp000573
KS-1106
L000510
LS-134196
Lopac-R-118
MLS000759429
MLS001165758
MLS001424081
MolPort-002-885-858
 
NCGC00015883-01
NCGC00015883-02
NCGC00015883-03
NCGC00094352-01
NCGC00094352-02
NCGC00094352-03
NCGC00179257-01
Prestwick0_001029
Prestwick1_001029
R 62 766
R 64 766, Risperdal, Risperidone
R 64,766
R 64766
R-118
R-64,766
R-64-766
R-64766
R64,766
R64766
Rispen
Risperdal
Risperdal (TN)
Risperdal Consta
Risperdal M-Tab
Risperidal
Risperidal M-Tab
Risperidona
Risperidona [Spanish]
Risperidone
Risperidone (JAN/USAN/INN)
Risperidone (RIS)
Risperidone [USAN:BAN:INN]
Risperidone, placebo
Risperidonum
Risperidonum [Latin]
Risperin
Rispolept
Rispolin
S1615_Selleck
SAM001246595
SMR000466323
SPBio_003078
STK646402
Sequinan
Spiron
TL8000230
UNII-L6UH7ZF8HC
risperdone
risperidone
4
Methylphenidateapproved, investigationalPhase 4375113-45-14158
Synonyms:
.alpha.-Phenyl-2-piperidineacetic acid methyl ester
113-45-1
2-Piperidineacetic acid, .alpha.-phenyl-, methyl ester
2-Piperidineacetic acid, alpha-phenyl-, methyl ester
298-59-9 (hydrochloride)
4311/B Ciba
AC1L1HJM
C 4311
C07196
CHEBI:6887
CHEMBL796
CID4158
Calocain
Centedein
Centedrin
Centedrine
Centredin
Concerta
D-Methylphenidate HCl
D04999
DB00422
DB06701
DEA No. 1724
Daytrana
Daytrana (TN)
EINECS 204-028-6
Focalin
Focalin XR
HSDB 3126
L001307
LS-565
METHYLPHENIDATE (SEE ALSO: METHYLPHENIDATE HYDROCHLORIDE, CAS 298-59-9, NTPNO 10266-R)
MPH
Meridil
Metadate
Metadate CD
Metadate ER
MethyPatch
Methyl (2-phenyl-2-(2-piperidyl)acetate)
Methyl alpha-phenyl-alpha-(2-piperidyl)acetate
Methyl alpha-phenyl-alpha-2-piperidinylacetate
Methyl phenidate
 
Methyl phenidyl acetate
Methyl phenidylacetate
Methylfenidan
Methylin
Methylin ER
Methylofenidan
Methylphen
Methylphenidan
Methylphenidate
Methylphenidate (USAN/INN)
Methylphenidate HCl
Methylphenidate [INN:BAN]
Methylphenidate hydrochloride
Methylphenidatum
Methylphenidatum [INN-Latin]
Methylphenidylacetate hydrochloride
Methypatch
Metilfenidat hydrochloride
Metilfenidato
Metilfenidato [INN-Spanish]
Metilfenidato [Italian]
MolPort-001-779-620
NCI-C56280
PMS-Methylphenidate
Phenidylate
Plimasine
Riphenidate
Ritalin
Ritalin LA
Ritalin SR
Ritalin hydrochloride
Ritalin-SR
Ritaline
Ritcher Works
Ritcher works
Tsentedrin
UNII-207ZZ9QZ49
alpha-Phenyl-2-piperidineacetic acid methyl ester
alpha-Phenyl-alpha-(2-piperidyl)acetic acid methyl ester
d-methylphenidate HCl
methyl 2-phenyl-2-piperidin-2-ylacetate
methyl phenyl(piperidin-2-yl)acetate
methylphenidate
nchembio.2007.55-comp28
5
Lovastatinapproved, investigationalPhase 4, Phase 26375330-75-553232
Synonyms:
(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 (S)-2-methyl-butyrate
1cqp
2beta,6alpha-Dimethyl-8alpha-(2-methyl-1-oxobutoxy)-mevinic acid lactone
6 Methylcompactin
6 alpha-Methylcompactin
6-Methylcompactin
6-alpha-Methylcompactin
6-alpha-methylcompactin
6alpha-Methylcompactin
6α-methylcompactin
71949-96-7
74133-25-8
75330-75-5
81739-26-6
AC-13961
AC1L1EI6
AC1Q2C7T
ACon0_000534
ACon1_000390
ARONIS24208
Altocor
Altoprev
Artein
BB_NC-1457
BIDD:GT0749
BIDD:PXR0113
BPBio1_000519
BRD-K09416995-001-06-8
BRN 3631989
BSPBio_000471
BSPBio_001265
BSPBio_003346
Belvas
C07074
C24H36O5
CCRIS 8092
CHEBI:40303
CHEMBL503
CID53232
CPD-5561
CPD000673570
Cholestra
Closterol
Colevix
D00359
D008148
DB00227
DivK1c_001032
HMS1569H13
HMS1792O07
HMS1923O13
HMS1990O07
HMS2089M06
HMS2093O03
HMS503O05
HSDB 6534
Hipolip
Hipovastin
I06-1876
IDI1_001032
KBio1_001032
KBio3_002848
L-154803
L0214
LOVASTATIN
LS-46359
Lestatin
Lipdip
Lipivas
Lipofren
Liposcler
 
Lovalip
Lovalord
Lovastatin & Primycin
Lovastatin (USP/INN)
Lovastatin [USAN:BAN:INN]
Lovastatin, (1 alpha(S*))-Isomer
Lovastatin, 1 alpha-Isomer (without R*/S* notation)
Lovastatina
Lovastatina [Spanish]
Lovastatine
Lovastatine [French]
Lovastatinum
Lovastatinum [Latin]
Lovasterol
Lovastin
Lozutin
M2147_SIGMA
MEGxm0_000398
MK 803
MK-803
MK803
ML-530B
ML-530b
MLS000069585
MLS001055358
MSD 803
Mevacor
Mevacor (TN)
Mevinacor
Mevinolin
Mevinolin from Aspergillus sp.
Mevlor
MolPort-001-739-990
Monacolin K
Monacolin-K
Monakolin K
NCGC00023509-03
NCGC00023509-04
NCGC00023509-05
NCGC00023509-06
NCGC00023509-07
NCGC00023509-08
NINDS_001032
Nergadan
Paschol
Prestwick0_000516
Prestwick1_000516
Prestwick2_000516
Prestwick3_000516
Prestwick_819
Rextat
Rodatin
Rovacor
SAM002589963
SMR000058779
SMR000673570
SPBio_002392
SPECTRUM1503977
STK801953
Sivlor
Spectrum3_001873
Spectrum5_001294
Taucor
Tecnolip
Teroltrat
UNII-9LHU78OQFD
ZINC03812841
lovastatin
lovastatin lactone
nchembio742-comp5
nchembio790-comp14
nchembio869-comp12
6Psychotropic DrugsPhase 4, Phase 26430
7Neurotransmitter Uptake InhibitorsPhase 4, Phase 23521
8Central Nervous System DepressantsPhase 4, Phase 213403
9Dopamine AgentsPhase 43836
10Antipsychotic AgentsPhase 4, Phase 22401
11Serotonin AgentsPhase 4, Phase 23156
12Neuroprotective AgentsPhase 41716
13Excitatory Amino AcidsPhase 41362
14Excitatory Amino Acid AntagonistsPhase 41347
15Neurotransmitter AgentsPhase 4, Phase 2, Phase 118340
16Protective AgentsPhase 4, Phase 3, Phase 27443
17Tranquilizing AgentsPhase 4, Phase 24265
18AnticonvulsantsPhase 42695
19
SerotoninPhase 4, Phase 2362750-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
20Dopamine Uptake InhibitorsPhase 41331
21Serotonin AntagonistsPhase 41409
22DihydromevinolinPhase 4, Phase 263
23Dopamine AntagonistsPhase 41093
24AntimetabolitesPhase 4, Phase 212054
25Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 4, Phase 21998
26Anticholesteremic AgentsPhase 4, Phase 22025
27Central Nervous System StimulantsPhase 42211
28Hypolipidemic AgentsPhase 4, Phase 22785
29Lipid Regulating AgentsPhase 4, Phase 22766
30L 647318Phase 4, Phase 263
31
BaclofenapprovedPhase 3, Phase 21011134-47-02284
Synonyms:
( inverted question mark)-Baclofen
(+-)-Baclofen
(+/-)- beta-(Aminoethyl)-4- chlorobenzenepropanoic acid
(+/-)-BACLOFEN
(+/-)-beta-(Aminomethyl)-4-chlorobenzenepropanoic acid
(?)-Baclofen
1134-47-0
4-Amino-3-(4-chlorophenyl)butanoic acid
4-Amino-3-(4-chlorophenyl)butyric acid
62594-36-9
AB00051921
AC-4530
AC1L1DC6
ASTA Medica Brand of Baclofen
AWD, Baclofen
Alphapharm Brand of Baclofen
Apo Baclofen
Apo-Baclofen
ApoBaclofen
Apotex Brand of Baclofen
Ashbourne Brand of Baclofen
Athena Brand of Baclofen
Atrofen
B 5399
B3343
B5399_SIGMA
BPBio1_000012
BPBio1_000750
BRD-A84174873-001-05-2
BRN 2104494
BSPBio_000010
BSPBio_001880
Ba 34647
Ba-34,647
Ba-34647
Ba34,647
Ba34647
Baclofen (JP15/USP/INN)
Baclofen (R,S)
Baclofen AWD
Baclofen Alphapharm Brand
Baclofen Apotex Brand
Baclofen Ashbourne Brand
Baclofen Athena Brand
Baclofen Ciba-Geigy Brand
Baclofen Irex Brand
Baclofen Isis Brand
Baclofen Medtronic Brand
Baclofen Novartis Brand
Baclofen Nu-Pharm Brand
Baclofen Pharmascience Brand
Baclofen [USAN:INN:BAN:JAN]
Baclofene
Baclofene Irex
Baclofene [INN-French]
Baclofene-Irex
BaclofeneIrex
Baclofeno
Baclofeno [INN-Spanish]
Baclofenum
Baclofenum [INN-Latin]
Baclon
Baclophen
Baclospas
Benzenepropanoic acid, beta-(aminomethyl)-4-chloro-(9CI)
Biomol-NT_000251
C 34647Ba
C10H12ClNO2
CCRIS 3722
CHEBI:2972
CHEMBL701
CIBA-34,647-BA
CIBA34,647BA
CID2284
Chlorophenyl GABA
Ciba 34,647-Ba
Ciba Geigy Brand of Baclofen
Ciba-Geigy Brand of Baclofen
Clofen
D001418
D00241
DB00181
DL-4-Amino-3-P-chlorophenylbutanoic acid
DL-4-Amino-3-p-chlorophenylbutanoic acid
DL-Baclofen
 
DivK1c_000001
EINECS 214-486-9
EU-0100163
GABA, Chlorophenyl
Gabalon
Gen Baclofen
Gen-Baclofen
GenBaclofen
Genpharm
HMS1568A12
HMS1920E21
HMS2091M03
HMS500A03
I01-1934
IDI1_000001
Irex Brand of Baclofen
Isis Brand of Baclofen
KBio1_000001
KBio2_000466
KBio2_003034
KBio2_005602
KBio3_001380
KBioGR_000650
KBioSS_000466
Kemstro
Kemstro (TN)
L000002
LS-77134
Lebic
Lioresal
Lioresal (TN)
Lioresal Intrathecal
Lopac0_000163
MLS000028480
Medtronic Brand of Baclofen
MolPort-002-051-370
NCGC00015156-05
NCGC00015156-12
NCGC00023843-03
NCGC00024579-03
NCGC00024579-04
NCGC00024579-05
NCGC00024579-06
NINDS_000001
NSC329137
Novartis Brand of Baclofen
Nu Baclo
Nu Pharm Brand of Baclofen
Nu-Baclo
Nu-Baclofen
Nu-Pharm Brand of Baclofen
NuBaclo
Oprea1_440627
PCP-GABA
PMS Baclofen
PMSBaclofen
Pharmascience Brand of Baclofen
Pms-Baclofen
Prestwick0_000085
Prestwick1_000085
Prestwick2_000085
Prestwick3_000085
Prestwick_85
SMP1_000036
SMR000058294
SPBio_000044
SPBio_001949
SPECTRUM1500135
STK535284
STOCK2S-30552
Spectrum2_000092
Spectrum3_000310
Spectrum4_000245
Spectrum5_000852
Spectrum_000066
UNII-H789N3FKE8
UPCMLD-DP142
UPCMLD-DP142:001
baclofen
beta-(4-Chlorophenyl)gaba
beta-(Aminomethyl)-4-chlorobenzenepropanoic acid
beta-(Aminomethyl)-P-chlorohydrocinnamic acid
beta-(Aminomethyl)-p-chlorohydrocinnamic acid
beta-(P-Chlorophenyl)-gamma-aminobutyric acid
beta-(p-Chlorophenyl)-gamma-aminobutyric acid
gamma-Amino-beta-(P-chlorophenyl)butyric acid
gamma-Amino-beta-(p-chlorophenyl)butyric acid
32
EthanolapprovedPhase 3, Phase 2213764-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
33
Acamprosateapproved, investigationalPhase 3, Phase 23977337-76-971158
Synonyms:
3-(Acetylamino)propanesulphonic acid
3-Acetamido-1-propanesulfonic acid
3-acetamidopropane-1-sulfonic acid
77337-70-3 (mono-hydrochloride salt)
77337-71-4 (mono-potassium salt)
77337-72-5 (mono-lithium salt)
77337-73-6 (calcium[2:1] salt)
77337-74-7 (magnesium[2:1] salt)
77337-76-9
AC1L2FNA
AC1Q1L6O
AC1Q6X8K
AOTA
AR-1H6082
Acamprosate
Acamprosate (INN)
Acamprosate 6473
Acamprosate [INN:BAN]
Acamprosato
Acamprosato [INN-Spanish]
Acamprosatum
 
Acamprosatum [INN-Latin]
Aotal
Aotal (TN)
C5H11NO4S
CHEBI:51041
CID71158
Campral
D07058
DB00659
EINECS 278-667-4
HSDB 7358
LS-120940
N-Acetylhomotaurine
N-acetyl homotaurine
UNII-N4K14YGM3J
acamprosate
acamprosate (Campral)
acamprostate
calcium acetyl homotaurinate
calcium acetylhomotaurinate
calcium acetylhomotaurine
sodium acetylhomotaurine
34
Vitamin Capproved, nutraceuticalPhase 3, Phase 253150-81-75785, 54670067
Synonyms:
(+)-Sodium L-ascorbate
(+)-ascorbate
(+)-ascorbic acid
(2R)-2-[(1S)-1,2-Dihydroxyethyl]-4,5-dihydroxy-furan-3-one
(2R)-2-[(1S)-1,2-dihydroxyethyl]-4,5-dihydroxyfuran-3-one
(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one
129940-97-2
134-03-2 (monosodium salt)
14536-17-5
154170-90-8
2-(1,2-Dihydroxyethyl)-4,5-dihydroxyfuran-3-one
255564_SIAL
259133-78-3
3-Keto-L-gulofuranolactone
3-Oxo-L-gulofuranolactone
3-Oxo-L-gulofuranolactone (enol form)
30208-61-8
33034_RIEDEL
33034_SIAL
47863_SUPELCO
47A605F0-4187-47A8-B0CE-F9E7DA1B0076
50-81-7
50976-75-5
56172-55-5
56533-05-2
57304-74-2
57606-40-3
623158-95-2
6730-29-6
882690-91-7
884381-69-5
885512-24-3
88845-26-5
89924-69-6
95209_FLUKA
95209_SIGMA
95210_FLUKA
95210_SIAL
95212_FLUKA
A0278_SIGMA
A0537
A2174_SIGMA
A2218_SIGMA
A2343_SIGMA
A4403_SIGMA
A4544_SIGMA
A5960_SIGMA
A7506_SIGMA
A92902_ALDRICH
A92902_SIAL
AB00376923
AB1002440
AC1L1L4T
AC1Q77S6
AR-1J3435
Acid Ascorbic
Acide ascorbique
Acide ascorbique [INN-French]
Acido ascorbico
Acido ascorbico [INN-Spanish]
Acidum ascorbicum
Acidum ascorbicum [INN-Latin]
Acidum ascorbinicum
Adenex
Allercorb
Ambap36431-82-0
Antiscorbic vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-cee
Ascoltin
Ascoltin (TN)
Ascor-B.I.D.
Ascorb
Ascorbajen
Ascorbate
Ascorbic Acid
Ascorbic Acid, Monosodium Salt
Ascorbic acid
Ascorbic acid (JP15/USP/INN)
Ascorbic acid [BAN:INN:JAN]
Ascorbic acid [INN:BAN:JAN]
Ascorbicab
Ascorbicap
Ascorbicap (TN)
Ascorbicin
Ascorbin
Ascorbinsaeure
Ascorbinsäure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
C-Level
C-Long
C-Quin
C-Span
C-Vimin
C00072
C6H8O6
CCRIS 57
CE-VI-Sol
CHEBI:29073
CHEMBL196
CID5785
Cantan
Cantaxin
Caswell No. 061B
Catavin C
Ce lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
Cee-Vite
Cee-caps TD
Cee-vite
Cegiolan
Ceglion
Ceklin
Celaskon
Celin
Cell C
Cemagyl
Cemill
Cenetone
Cenolate
Cereon
Cergona
Cescorbat
Cetamid
Cetane
Cetane-Caps TC
Cetane-Caps TD
Cetane-caps TC
Cetane-caps TD
Cetebe
Cetemican
Cevalin
 
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic acid
Cevitamin
Cevitan
Cevitex
Cewin
Chewcee
Ciamin
Cipca
Citriscorb
Citrovit
Colascor
Concemin
Cortalex
D00018
DB00126
Davitamon C
Dora-C-500
Duoscorb
EINECS 200-066-2
FEMA No. 2109
Ferancee
Ferrous ascorbate
HSDB 818
HiCee
Hicee
Hybrin
IDO-C
Ido-C
Iron(II) ascorbate
Iron-ascorbic acid complexes
Juvamine
Kangbingfeng
Kyselina askorbova
Kyselina askorbova [Czech]
L(+)-Ascorbate
L(+)-Ascorbic acid
L-(+)-Ascorbate
L-(+)-Ascorbic Acid
L-(+)-Ascorbic acid
L-(+)-ascorbic acid
L-3-Ketothreohexuronic acid lactone
L-3-ketothreohexuronic acid
L-Ascorbate
L-Ascorbic Acid
L-Ascorbic acid
L-Ascorbic acid, free radical form
L-Lyxoascorbate
L-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic acid
L-ascorbate
L-threo-Hex-2-enonic acid, gamma-lactone
L-threo-ascorbic acid
L-threo-hex-2-enono-1,4-lactone
LS-145
Laroscorbine
Lemascorb
Liqui-Cee
Liqui-cee
MLS002153776
Magnesium Ascorbicum
Magnorbin
Meri-C
Meri-c
MolPort-001-792-501
Monodehydroascorbic acid
NCGC00091517-01
NCGC00091517-02
NCGC00164357-01
NCI-C54808
NSC 33832
Natrascorb
Natrascorb injectable
Oral Vitamin C
Planavit C
Prestwick3_000325
Proscorbin
Redoxon
Ribena
Ronotec 100
Rontex 100
Roscorbic
Rovimix C
SMR001233160
Scorbacid
Scorbu C
Scorbu-C
Secorbate
Semidehydroascorbate
Sodascorbate
Sodium Ascorbate (Ascorbic Acid)
Stuartinic
Suncoat VC 40
Sunkist
Testascorbic
Tolfrinic
UNII-PQ6CK8PD0R
VASC
Vicelat
Vicin
Vicomin C
Viforcit
Viscorin
Viscorin 100M
Vitace
Vitacee
Vitacimin
Vitacin
Vitamin C
Vitamin- C
Vitamin-?C
Vitamisin
Vitascorbol
W210901_ALDRICH
Xitix
acide ascorbique
acidum ascorbicum
acidum ascorbinicum
antiscorbic vita min
ascor-b.i.d
ascorbate
ascorbic acid
bmse000182
cee-caps td
cevibid
component of Cortalex
component of E and C-Level
component of Endoglobin Forte
component of Ferancee
gamma-Lactone L-threo-Hex-2-enonate
gamma-Lactone L-threo-Hex-2-enonic acid
l-ascorbic acid
l-threo-hex-1-eofuranos-3-ulose
nchembio.174-comp5
nchembio.89-comp1
nchembio.92-comp2
nchembio821-comp9
roscorbi c
vitamin C
ácido ascórbico
35
Vitamin Eapproved, nutraceutical, vet_approvedPhase 3, Phase 241459-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
36Trace ElementsPhase 3, Phase 26001
37VitaminsPhase 3, Phase 25282
38TocotrienolsPhase 3, Phase 2410
39MicronutrientsPhase 3, Phase 26001
40Pharmaceutical SolutionsPhase 3, Phase 28192
41AntioxidantsPhase 3, Phase 23050
42TocopherolsPhase 3, Phase 2414
43TocotrienolNutraceuticalPhase 3, Phase 2410
44TocopherolNutraceuticalPhase 3, Phase 2414
45
SertralineapprovedPhase 229979617-96-268617
Synonyms:
(+)-Sertraline
(1S,4S)-4-(3,4-dichlorophenyl)-N-methyl-1,2,3,4-tetrahydronaphthalen-1-amine
(1S,4S)-sertraline
(1S-cis)-1,2,3,4-Tetrahydro-4-(3,4-dichlorophenyl)-N-methyl-1-naphthalenamine
(1S-cis)-1,2,3,4-tetrahydro-4-(3,4-dichlorophenyl)-N-methyl-1-naphthalenamine
(1S-cis)-4-(3,4-Dichlorophenyl)-1,2,3,4-tetrahydro-N-methyl-1-naphthalenamine
79559-97-0 (Hydrochloride)
79617-96-2
AB00514002
AB1004870
AC-15639
AC1L2A41
AC1Q3O5N
AC1Q3XJU
Apo-Sertraline
BIDD:GT0768
BIDD:PXR0193
BPBio1_001285
BRD-K82036761-003-02-1
BRN 5753709
BSPBio_001167
BSPBio_002698
C07246
C17H17Cl2N
CHEBI:9123
CHEMBL809
CID68617
Cp 51974
D02360
DB01104
DB08567
FT-0081122
HSDB 7037
KBio3_001918
 
KBioGR_001724
LS-94179
Lustral
MLS001195647
MLS002222308
MolPort-002-885-860
NCGC00092386-03
NCGC00092386-04
NCGC00092386-05
NCGC00092386-06
NCGC00092386-07
NCGC00092386-08
NCGC00092386-09
Prestwick3_001014
SMR000596516
SPBio_000385
SRE
Sertralina
Sertralina [Spanish]
Sertraline
Sertraline (INN)
Sertraline Hydrochloride
Sertraline [INN:BAN]
Sertraline [Zoloft]
Sertraline hydrochloride
Sertralinum
Sertralinum [Latin]
Spectrum2_000493
Spectrum3_001079
Spectrum4_001232
Sultamicillin Tosylate
UNII-QUC7NX6WMB
Zoloft
cis-(+)-sertraline
sertraline
sertraline (Zoloft)
46
Aripiprazoleapproved, investigationalPhase 2358129722-12-960795
Synonyms:
129722-12-9
24-29-3
7-(4-(4-(2,3-Dichlorophenyl)-1-piperazinyl)butoxy)-3,4-dihydro-2(1H)-quinolinone
7-(4-(4-(2,3-Dichlorophenyl)-1-piperazinyl)butoxy)-3,4-dihydrocarbostyril
7-(4-(4-(2,3-Dichlorophenyl)-1-piperazinyl)butyloxy)-3,4-dihydro-2(1H)-quinolinone
7-[4-[4-(2,3-Dichlorophenyl)-1-piperazinyl]butoxy]-3,4-dihydrocarbostyril
7-[4-[4-(2,3-dichlorophenyl)piperazin-1-yl]butoxy]-3,4-dihydro-1H-quinolin-2-one
7-{4-[4-(2,3-dichlorophenyl)piperazin-1-yl]butoxy}-3,4-dihydroquinolin-2(1H)-one
AC-1554
AC1L1TXZ
AC1Q3T38
ALKS-9070
Abilify
Abilify (TN)
Abilify Discmelt
Abilitat
Aripiprazol
Aripiprazole
Aripiprazole (JAN/USAN/INN)
Aripiprazole [USAN]
Aripiprazolum
Aripirazole
Arpizol
Asprito|
BMS-337039
Bio-0004
Bristol-Myers Squibb brand of aripiprazole
C094645
C12564
C23H27Cl2N3O2
CHEBI:31236
CHEMBL1112
CID60795
CPD000466383
 
D01164
DB01238
Discmelt
FT-0082572
HMS2051I18
HMS2089M20
HMS2093F22
HSDB 7320
KS-1030
L001339
LS-142666
MLS000759517
MLS001165779
MLS001195621
MLS001424078
MolPort-002-885-808
MolPort-003-844-657
NCGC00159510-02
NCGC00159510-03
OPC 31
OPC-14597
OPC-31
Opc 14597
Otsuka brand of aripiprazole
Pripiprazole
S06-0010
SAM001246750
SMR000466383
STK625160
TL8000707
TL80090184
UNII-82VFR53I78
aripiprazol
aripiprazole
aripiprazolum
||OPC 14597
47
Minocyclineapproved, investigationalPhase 223110118-90-85281021
Synonyms:
(2Z,4S,4aS,5aR,12aS)-2-[amino(hydroxy)methylidene]-4,7-bis(dimethylamino)-10,11,12a-trihydroxy-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AS,5AR,12AS)-4,7-BIS(DIMETHYLAMINO)-3,10,12,12A-TETRAHYDROXY-1,11-DIOXO-1,4,4A,5,5A,6,11,12A-OCTAHYDROTETRACENE-2-CARBOXAMIDE
(4S,4AS,5ar,12as)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10118-90-8
13614-98-7 (mono-hydrochloride)
4,7-Bis(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,10,12,12a-tetrahydroxy-1,11-dioxo-2-naphthacenecarboxamide
4708-96-7
7-Dimethylamino-6-demethyl-6-deoxytetracycline
AC1NQXWM
Alti-Minocycline
Apo-Minocycline
Arestin
BRN 3077644
Bio-0062
Borymycin
C07225
C23H27N3O7
CHEBI:50694
CHEBI:529981
CHEMBL1434
CHEMBL259172
CID5281021
CL 59806
CRL-1605 & Minocycline
D05045
Dynacin
Gen-Minocycline
HMS2090D03
HSDB 3130
Klinomycin
 
LMPK07000002
LS-93850
Lactoferrin B & Minocycline
Lactoferrin H & Minocycline
MINO
MIY
Minociclina
Minociclina [INN-Spanish]
Minociclinum
Minocin
Minocin (Hydrochloride)
Minocline
Minocyclin
Minocycline (USAN/INN)
Minocycline HCl
Minocycline Monohydrochloride
Minocycline [USAN:BAN:INN]
Minocyclinum
Minocyclinum [INN-Latin]
Minocyn
Minomycin
NCGC00178854-01
NSC 141993
NSC141993
Novo-Minocycline
Solodyn
UNII-FYY3R43WGO
Vectrin
Vectrin (Hydrochloride)
minociclinum
minocycline
nchembio.559-comp1
48
DonepezilapprovedPhase 2, Phase 1286120014-06-43152
Synonyms:
( inverted exclamation markA)-E 2020
1-Benzyl-4-[(5,6-dimethoxy-1-oxoindan-2-yl)methyl]piperidine
120014-06-4
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxy-2,3-dihydroinden-1-one
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxyindan-1-one
AB1004836
AC-6969
AC1L1FAE
AKOS000277311
Aricept
Aricept ODT
C24H29NO3
CHEBI:53289
CHEMBL502
CID3152
D07869
DB00843
Domepezil
Donaz
Donaz (TN)
 
Donepezil
Donepezil (INN)
Donepezil [INN:BAN]
Donepezil hydrochloride
Donepezilo
Donepezilum
Eranz
I06-0343
KBio2_002144
KBio2_004712
KBio2_007280
KBioSS_002144
LS-81819
MolPort-000-881-588
MolPort-003-847-014
NCGC00167537-01
Oprea1_188452
Spectrum5_001662
Spectrum_001664
TL8000531
UNII-8SSC91326P
49
Oxytocinapproved, vet_approvedPhase 243950-56-6439302, 53477758
Synonyms:
(2S)-1-[(4R,7S,10S,13S,16S,19R)-19-amino-7-(2-amino-2-oxoethyl)-10-(3-amino-3-oxopropyl)-13-[(2S)-butan-2-yl]-16-[(4-hydroxyphenyl)methyl]-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carbonyl]-N-[(2S)-1-[(2-amino-2-oxoethyl)amino]-4-methyl-1-oxopentan-2-yl]pyrrolidine-2-carboxamide
(Arg8)-Vasopressin
(Arg8)-Vasotocin
1-({(4R,7S,10S,13S,16S,19R)-19-amino-7-(2-amino-2-oxoethyl)-10-(3-amino-3-oxopropyl)-16-(4-hydroxybenzyl)-13-[(1S)-1-methylpropyl]-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentaazacycloicosan-4-yl}carbonyl)-L-prolyl-L-leucylglycinamide
50-56-6
AC1L9735
Argipressin
Argpressin Acetate
BCBcMAP01_000094
Biotinyl-(Arg8)-Vasopressin
C00746
CHEBI:492195
CHEBI:7872
CHEMBL395429
CID439302
Cys-Tyr-Ile-Gln-Asn-Cys-Pro-Arg-Gly-NH2
Cys-Tyr-Ile-Gln-Asn-Cys-Pro-Leu-Gly-NH2
Cys-Tyr-Ile-Thr-Asn-Cys-Gly-Leu-Gly-NH2
Cys-Tyr-Phe-Gln-Asn-Cys-Pro-Arg-Gly-NH2
Cys-Tyr-Phe-Gln-Asn-Cys-Pro-Lys-Gly-NH2
D00089
Disulfide bridge Cys1-Cys6
Gly-Leu-Pro-c
HS-2021
 
L-Cysteinyl-L-tyrosyl-L-isoleucyl-L-glutaminyl-L-asparaginyl-L-cysteinyl-L-prolyl-L-leucylglycinamide cyclic(1-6)-disulfide
MolPort-003-938-941
NCGC00167132-01
O3251_SIGMA
O4375_SIGMA
OXT
OXYTOCIN
Ocytocin
Oxitocina
Oxytocic hormone
Oxytocin (JP15/USP/INN)
Oxytocin (TN)
Oxytocin 10 Usp Units In Dextrose 5%
Oxytocin 20 Usp Units In Dextrose 5%
Oxytocin 5 Usp Units In Dextrose 5%
Oxytocin Acetate
Oxytocin injection
Oxytocine
Oxytocinum
Pitocin
Pitocin (TN)
Syntocinon
Syntocinon (TN)
TI-001
alpha-Hypophamine
nchembio.184-comp2
50
Pyridoxalapproved, nutraceuticalPhase 218766-72-81050
Synonyms:
2-methyl-3-hydroxy-4-formyl-5-hydroxymethylpyridine
3-Hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
3-hydroxy-5-(hydroxymethyl)-2-methyl-4-pyridinecarboxaldehyde
 
3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde
3-hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
Piridoxal
Pyridoxal
Pyridoxaldehyde

Interventional clinical trials:

(show top 50)    (show all 71)
idNameStatusNCT IDPhase
1Riluzole in Fragile X SyndromeCompletedNCT00895752Phase 4
2Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X SyndromeRecruitingNCT02642653Phase 4
3The Psychiatric and Cognitive Phenotypes in Velocardiofacial SyndromeRecruitingNCT00768820Phase 4
4Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X SyndromeCompletedNCT01282268Phase 3
5Acamprosate in Youth With Fragile X SyndromeCompletedNCT01300923Phase 3
6Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X SyndromeCompletedNCT01325220Phase 3
7Study of Acamprosate in Fragile x SyndromeRecruitingNCT01911455Phase 2, Phase 3
8Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X SyndromeRecruitingNCT02942498Phase 3
9Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)TerminatedNCT01433354Phase 2, Phase 3
10An Open Label Extension Study in Subjects With Fragile X SyndromeTerminatedNCT01555333Phase 3
11Citocoline for Treatment of FXTASUnknown statusNCT02197104Phase 2
12Safety and Efficacy of AFQ056 in Adult Patients With Fragile X SyndromeCompletedNCT01253629Phase 2
13Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X SyndromeCompletedNCT01357239Phase 2
14A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X SyndromeCompletedNCT02126995Phase 2
15Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X SyndromeCompletedNCT00788073Phase 2
16Trial of Sertraline to Treat Children With Fragile X SyndromeCompletedNCT01474746Phase 2
17Effects of CX516 on Functioning in Fragile X Syndrome and AutismCompletedNCT00054730Phase 2
18A Prospective Open-label Study of Aripiprazole in Fragile X SyndromeCompletedNCT00420459Phase 2
19Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X SyndromeCompletedNCT01329770Phase 2
20A Safety Study of NNZ-2566 in Patients With Fragile X SyndromeCompletedNCT01894958Phase 2
21Double-blind Placebo Controlled Study of Oxytocin in Fragile X SyndromeCompletedNCT01254045Phase 2
22A Study of RO4917523 in Pediatric Patients With Fragile X SyndromeCompletedNCT01750957Phase 2
23A Study of RO4917523 in Patients With Fragile X SyndromeCompletedNCT01517698Phase 2
24Randomized Controlled Study of Donepezil in Fragile X SyndromeCompletedNCT01120626Phase 2
25Open Label Study Investigating Safety and Efficacy of NPL2009 50 mg - 150 mg on Prepulse Inhibition Tests and Continuous Performance Tasks, Adults With Fragile X SyndromeCompletedNCT00637221Phase 1, Phase 2
26A Study With RO4917523 in Patients With Fragile X SyndromeCompletedNCT01015430Phase 2
27Efficacy, Safety and Tolerability of AFQ056 in Fragile X PatientsCompletedNCT00718341Phase 2
28Combined Treatment of Minocycline and Lovastatin to Treat Individuals With Fragile X SyndromeRecruitingNCT02680379Phase 2
29Effects of Social Gaze Training on Brain and Behavior in Fragile X SyndromeRecruitingNCT02616796Phase 1, Phase 2
30Ganaxolone Treatment in Children With Fragile X SyndromeActive, not recruitingNCT01725152Phase 2
31Single-Dose Acamprosate, Lovastatin, Minocycline and Placebo in Fragile X SyndromeEnrolling by invitationNCT02998151Phase 2
32Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With AllopregnanoloneEnrolling by invitationNCT02603926Phase 2
33AFQ056 for Language Learning in Children With FXSNot yet recruitingNCT02920892Phase 2
34A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X SyndromeSuspendedNCT01325740Phase 2
35An Open Label Extension Study of STX209 in Subjects With Fragile X SyndromeTerminatedNCT01013480Phase 2
36Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X SyndromeTerminatedNCT01348087Phase 2
37Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)CompletedNCT01482143Phase 1
38An Open-Label Trial of Donepezil in Fragile X SyndromeCompletedNCT00220584Phase 1
39A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107CompletedNCT00965432Phase 1
40A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric ConditionsCompletedNCT00870974Phase 1
41Single Dose Pharmacokinetic (PK) StudyRecruitingNCT03109756Phase 1
42Glutaminergic Transmission in Autism : Molecular Imaging ExplorationRecruitingNCT02719951Phase 1
43Parents Resources for Decreasing the Incidence of Change Triggered Temper OutburstsActive, not recruitingNCT02567357Phase 1
44An Initial Study of AZD7325 in Adults With Fragile X SyndromeNot yet recruitingNCT03140813Phase 1
45Teaching Math Skills to Individuals With Fragile X SyndromeUnknown statusNCT01204151
46Validation of Saliva in the Esoterix Genetic Laboratories Fragile X AssayUnknown statusNCT01616589
47Trial of Minocycline to Treat Children With Fragile X SyndromeCompletedNCT01053156
48Decisional Capacity and Informed Consent in Fragile X SyndromeCompletedNCT02465931
49Add-on Pilot Trial of Minocycline to Treat Fragile X SyndromeCompletedNCT00858689
50"Using Epigallocatechin Gallate (EGCG) and Cognitive Training to Modulate Cognitive Performance in Patients With Fragile X Syndrome" (TESFX)CompletedNCT01855971

Search NIH Clinical Center for Fragile X Syndrome


Cochrane evidence based reviews: fragile x syndrome

Genetic Tests for Fragile X Syndrome

About this section

Genetic tests related to Fragile X Syndrome:

id Genetic test Affiliating Genes
1 Fragile X Syndrome27 24 FMR1
2 Fraxe27
3 X-Linked Mental Retardation Associated with Fragile Site Fraxe24 AFF2

Anatomical Context for Fragile X Syndrome

About this section

MalaCards organs/tissues related to Fragile X Syndrome:

36
Brain, Testes, Eye, Amygdala, Cortex, Prefrontal cortex, Temporal lobe

Publications for Fragile X Syndrome

About this section

Articles related to Fragile X Syndrome:

(show top 50)    (show all 872)
idTitleAuthorsYear
1
Intranasal siRNA administration reveals IGF2 deficiency contributes to impaired cognition in Fragile X syndrome mice. (28352664)
2017
2
Hyperactive locomotion in a Drosophila model is a functional readout for the synaptic abnormalities underlying fragile X syndrome. (28465421)
2017
3
A Screening Tool to Measure Eye Contact Avoidance in Boys with Fragile X Syndrome. (28516425)
2017
4
Metformin as Targeted Treatment in Fragile X Syndrome. (28436599)
2017
5
Behavioral effects of chronic stress in the Fmr1 mouse model for fragile X syndrome. (27939692)
2017
6
Fragile X Syndrome: Lessons Learned from the Most Translated Neurodevelopmental Disorder in Clinical Trials. (28400977)
2017
7
The Longitudinal Effects of Parenting on Adaptive Behavior in Children with Fragile X Syndrome. (28074357)
2017
8
Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome. (27900874)
2017
9
Beneficial effect of interventional exercise on autistic Fragile X syndrome. (28533625)
2017
10
Reduced Lateral Inhibition Impairs Olfactory Computations and Behaviors in a Drosophila Model of Fragile X Syndrome. (28366741)
2017
11
Capture-recapture methodology to study rare conditions using surveillance data for fragile X syndrome and muscular dystrophy. (28427448)
2017
12
Finding drugs for fragile X syndrome. (28473566)
2017
13
Erratum: Sensory hypo-excitability in a rat model of fetal development in Fragile X Syndrome. (28294163)
2017
14
New insights of altered lipid profile in Fragile X Syndrome. (28334053)
2017
15
New connections: Treating fragile X syndrome. (28465418)
2017
16
Metformin ameliorates core deficits in a mouse model of fragile X syndrome. (28504725)
2017
17
A resting EEG study of neocortical hyperexcitability and altered functional connectivity in fragile X syndrome. (28316753)
2017
18
Altered visual repetition suppression in Fragile X Syndrome: New evidence from ERPs and oscillatory activity. (28330777)
2017
19
Fragile X syndrome: a review of clinical and molecular diagnoses. (28420439)
2017
20
Altered Connectivity and Synapse Maturation of the Hippocampal Mossy Fiber Pathway in a Mouse Model of the Fragile X Syndrome. (28077511)
2017
21
Neural Circuits: Reduced Inhibition in Fragile X Syndrome. (28441561)
2017
22
Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder. (28074353)
2017
23
Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome. (28475355)
2017
24
GABA-B Agonist Baclofen Normalizes Auditory-Evoked Neural Oscillations and Behavioral Deficits in the Fmr1 Knockout Mouse Model of Fragile X Syndrome. (28451631)
2017
25
Challenges in prenatal screening and counselling for fragile X syndrome. (28387201)
2017
26
Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells. (27014370)
2016
27
Finding novel distinctions between the sAPPI+-mediated anabolic biochemical pathways in Autism Spectrum Disorder and Fragile X Syndrome plasma and brain tissue. (27212113)
2016
28
A Randomized, Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Children With Fragile X Syndrome. (27560971)
2016
29
Investigating the Receptive-Expressive Vocabulary Profile in Children with Idiopathic ASD and Comorbid ASD and Fragile X Syndrome. (27796729)
2016
30
Fragile X syndrome: Are signaling lipids the missing culprits? (27597551)
2016
31
Astrocytic Contributions to Synaptic and Learning Abnormalities in a Mouse Model of Fragile X Syndrome. (27865451)
2016
32
Joint Engagement and Early Language in Young Children With Fragile X Syndrome. (27681878)
2016
33
Validity of a condition specific outcome measure for fragile X syndrome: the Aberrant Behaviour Checklist-utility index. (26929037)
2016
34
Fragile X syndrome screening in pregnant women and women planning pregnancy shows a remarkably high FMR1 premutation prevalence in the Balearic Islands. (27333191)
2016
35
BMP signaling turns up in fragile X syndrome: FMRP represses BMPR2. (27273094)
2016
36
A New Link Between Insulin Signaling and Fragile X Syndrome. (27838827)
2016
37
Identification of microsatellite markers <1a88Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome. (26741412)
2016
38
Psychiatric disorders among women with thea88fragile X premutation without children affected by fragile X syndrome. (27615674)
2016
39
Fragile X syndrome: panoramic radiographic evaluation of dental anomalies, dental mineralization stage, and mandibular angle. (27812623)
2016
40
Pragmatic Language Features of Mothers With the FMR1 Premutation Are Associated With the Language Outcomes of Adolescents and Young Adults With Fragile X Syndrome. (26895548)
2016
41
Importance of a specialty clinic for individuals with fragile X syndrome. (27649377)
2016
42
MDM2 inhibition rescues neurogenic and cognitive deficits in a mouse model of fragile X syndrome. (27122614)
2016
43
Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe. (27072054)
2016
44
Understanding fragile X syndrome from a mother's perspective: Challenges and resilience. (27104339)
2016
45
Assistive technology to promote occupation and reduce mouthing by three boys with fragile X syndrome. (27054947)
2016
46
Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP. (27518042)
2016
47
The FMR1 promoter is selectively hydroxymethylated in primary neurons of Fragile X Syndrome patients. (27599747)
2016
48
Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations. (27916885)
2016
49
A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome. (28050218)
2016
50
Physiological Correlates of Maternal Responsivity in Mothers of Preschoolers With Fragile X Syndrome. (26914466)
2016

Variations for Fragile X Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Fragile X Syndrome:

70
id Symbol AA change Variation ID SNP ID
1FMR1p.Ile304AsnVAR_005234rs121434622
2FMR1p.Arg138GlnVAR_064507rs200163413
3FMR1p.Gly266GluVAR_075977

Clinvar genetic disease variations for Fragile X Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FMR1NM_ 002024.5(FMR1): c.-128_ -126(200)NT expansionPathogenicGRCh38Chr X, 147912052: 147912054
2FMR1NC_ 000023.9: g.146703942_ 146820448deldeletionPathogenicNCBI36Chr X, 146703942: 146820448
3ADGB; GRM1; LOC101928661; RAB32NC_ 000006.12: g.146414070_ 146715778del301709deletionPathogenicGRCh38Chr 6, 146414070: 146715778
4FMR1FMR1, SER27TERSNVPathogenic
5FMR1NM_ 002024.5(FMR1): c.911T> A (p.Ile304Asn)SNVPathogenicrs121434622GRCh37Chr X, 147018053: 147018053
6FMR1FMR1, 1-BP DEL, 373AdeletionPathogenic
7FMR1FMR1, IVS2AS1, G-T, -1 AND G-A, +1SNVPathogenic
8FMR1FMR1, (CGG)n EXPANSIONNT expansionPathogenic

Copy number variations for Fragile X Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
160593118830000092800000Copy numberGRM5Fragile x
2259561X137800000146900000Copy numberFMR1Fragile x

Expression for genes affiliated with Fragile X Syndrome

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Search GEO for disease gene expression data for Fragile X Syndrome.

Pathways for genes affiliated with Fragile X Syndrome

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Pathways related to Fragile X Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
GPCRs, Class C Metabotropic glutamate, pheromone42
10.0GRM1, GRM5
2
ERK Pathway in Huntingtons Disease42
10.0BDNF, GRM1
3
Protein-protein interactions at synapses60
Show member pathways
9.8GRIA1, GRM1, GRM5
4
MECP2 and Associated Rett Syndrome42
9.8BDNF, GRIA1, MECP2
5
Brain-Derived Neurotrophic Factor (BDNF) signaling pathway42
9.5BDNF, CYFIP1, EIF4E, GRIA1
6
Translational Control3
9.3DICER1, EIF4E, FMR1, FXR1, FXR2
7
Neuroscience3
9.1FMR1, FXR1, FXR2, GRIA1, GRM1, GRM5
8
RNA transport34
9.0CYFIP1, CYFIP2, EIF4E, FMR1, FXR1, FXR2

GO Terms for genes affiliated with Fragile X Syndrome

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Cellular components related to Fragile X Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1filopodium tipGO:003243310.9CYFIP1, FMR1
2mRNA cap binding complexGO:000584510.6CYFIP1, EIF4E, FMR1
3polysomeGO:000584410.5FMR1, FXR1, FXR2
4postsynapseGO:009879410.5FMR1, GRIA1, MECP2
5dendritic spineGO:004319710.4CYFIP1, FMR1, FXR1, GRIA1
6postsynaptic densityGO:001406910.2FMR1, GRIA1, GRM1, GRM5
7presynaptic membraneGO:004273410.1FMR1, GRM1, GRM5
8dendriteGO:003042510.1DICER1, FMR1, FXR1, GRIA1, GRM1
9RISC complexGO:00164429.9DICER1, EIF4E
10perinuclear region of cytoplasmGO:00484719.5BDNF, CYFIP1, CYFIP2, EIF4E, FMR1, FXR1
11neuron projectionGO:00430059.5CYFIP1, CYFIP2, FMR1, GRIA1, GRM1, GRM5

Biological processes related to Fragile X Syndrome according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathwayGO:000719610.7GRM1, GRM5
2chemical synaptic transmission, postsynapticGO:009956510.7GRIA1, GRM5
3G-protein coupled glutamate receptor signaling pathwayGO:000721610.6GRM1, GRM5
4dendrite extensionGO:009748410.4CYFIP1, CYFIP2
5negative regulation of translationGO:001714810.3EIF4E, FXR1, FXR2
6positive regulation of gene silencing by miRNAGO:200063710.3FMR1, FXR1
7chemical synaptic transmissionGO:000726810.2GRIA1, GRM1, GRM5, MECP2
8neuron projection developmentGO:003117510.0CYFIP1, CYFIP2, MECP2
9positive regulation of neurotrophin TRK receptor signaling pathwayGO:00513889.8CYFIP1, CYFIP2
10regulation of postsynaptic cytosolic calcium ion concentrationGO:00995669.8GRIA1, GRM1, GRM5

Molecular functions related to Fragile X Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1RNA 7-methylguanosine cap bindingGO:000034010.7CYFIP1, EIF4E
2G-quadruplex RNA bindingGO:000215110.7AFF2, FMR1, FXR1
3glutamate receptor activityGO:000806610.6GRIA1, GRM1, GRM5
4neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentrationGO:009958310.6GRIA1, GRM1, GRM5
5mRNA bindingGO:000372910.4FMR1, FXR1, FXR2, MECP2
6RNA strand annealing activityGO:003359210.3FMR1, FXR1
7siRNA bindingGO:00351979.8DICER1, FMR1, MECP2
8RNA bindingGO:00037239.2AFF2, DICER1, EIF4E, FMR1, FXR1, FXR2

Sources for Fragile X Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z