MCID: FRG001
MIFTS: 67

Fragile X Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Endocrine diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Fragile X Syndrome

About this section
Sources:
23Genetics Home Reference, 49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 35MedlinePlus, 2CDC, 65UMLS, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Fragile X Syndrome:

Name: Fragile X Syndrome 49 10 11 68 45 22 23 47 12 51 67 36 35 2 65
Martin-Bell Syndrome 10 68 45 22 23 51
Fraxa Syndrome 68 45 23 47 51 65
Fxs 68 45 22 23 51 2
Marker X Syndrome 10 68 45 22 23
Fraxe Syndrome 45 22 23 47 65
X-Linked Mental Retardation and Macroorchidism 68 45 23
Fragile Xe Syndrome 45 23 24
Fra Syndrome 68 45 23
X-Linked Mental Retardation Associated with Fragile Site Fraxe 45 22
Fraxe Mental Retardation Syndrome 22 23
Fraxe Intellectual Disability 23 51
 
Frax 67 24
Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 23
Intellectual Disability Associated with Fragile Site Fraxe 51
X-Linked Mental Retardation and Macro-Orchidism 45
Mental Retardation, X-Linked, Fraxe Type 23
Fragile X Mental Retardation Syndrome 10
Fragile Site, Folic Acid Type 45
Fragile X Mental Retardation 22
Fraxe Intellectual Deficit 23
Frax Syndrome 51
Fraxa 22

Characteristics:

Orphanet epidemiological data:

51
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
fraxe intellectual disability:
Inheritance: X-linked recessive

HPO:

61
fragile x syndrome:
Onset and clinical course: incomplete penetrance
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 300624
Disease Ontology10 DOID:14261
ICD1027 Q99.2
ICD9CM29 759.83
MeSH36 D005600
NCIt42 C84717
SNOMED-CT59 390007001, 613003
Orphanet51 908, 100973
ICD10 via Orphanet28 Q99.2
MESH via Orphanet37 D005600
UMLS via Orphanet66 C0016667, C0751156
UMLS65 C0016667, C0751156, C0751157

Summaries for Fragile X Syndrome

About this section
MedlinePlus:35 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 mental retardation, x-linked, fraxe type, and has symptoms including cognitive impairment, neurological speech impairment and pes planus. 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 Hypothetical Network for Drug Addiction. Affiliated tissues include brain, testes and heart, and related mouse phenotypes are reproductive system and integument.

Disease Ontology:10 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.

NIH Rare Diseases:45 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:67 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:23 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:49 Fragile X mental retardation is characterized by moderate to severe mental retardation, macroorchidism, and distinct... (300624) more...

Wikipedia:68 Fragile X syndrome (FXS), also known as Martin-Bell syndrome, or Escalante\'s syndrome (more commonly... 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 78)
idRelated DiseaseScoreTop Affiliating Genes
1autism spectrum disorder31.1BDNF, EIF4E, FMR1, MECP2, SLC6A4
2mental retardation, x-linked, fraxe type12.5
3fragile x syndrome type 112.0
4fragile x syndrome type 212.0
5fragile x syndrome type 312.0
6symptomatic form of fragile x syndrome in female carrier12.0
7chromosome xq27.3-q28 duplication syndrome10.9FMR1, FRAXA
8intellectual disability10.7
9premature ovarian failure 110.6FMR1, FRAXA
10inclusion body myopathy with paget disease of bone and frontotemporal dementia10.6FMR1, GRM5
11autosomal dominant disease10.5FMR1, FXR1, FXR2, GRM5
12deafness, dystonia, and cerebral hypomyelination10.5AFF2, FRAXE
13spinocerebellar ataxia type 1610.5FMR1, GRM5
14down syndrome10.3
15fragile x tremor/ataxia syndrome10.3
16autoimmune hepatitis10.3BDNF, FMR1, MECP2, SLC6A4
17atopic dermatitis10.3BDNF, GRM1, GRM5, SLC6A4
18candidiasis10.3BDNF, FMR1, GRM5, MECP2, SLC6A4
19craniosynostosis, adelaide type10.2BDNF, FMR1, GRM5, MECP2, SLC6A4
20ataxia10.2
21neuronitis10.2
22atypical autism10.2AFF2, BDNF, FMR1, MECP2, SLC6A4
23tremor10.2
24fragile x-associated tremor/ataxia syndrome10.1
25bone fracture10.1
26premature ovarian failure10.1
27learning disability10.0
28colorectal cancer10.0
29autoimmune disease of skin and connective tissue10.0BDNF, FMR1, FXR1, FXR2, GRM5, MECP2
30prader-willi syndrome10.0
31turner syndrome10.0
32attention deficit-hyperactivity disorder9.9
33friedreich ataxia9.9
34neurofibromatosis, type 19.9
35anxiety disorder9.9
36cerebritis9.9
37neurofibromatosis9.9
38myotonic dystrophy9.9
39hepatocellular carcinoma9.9
40parkinson disease, late-onset9.9BDNF, GRM1, GRM5, SLC6A4
41medulloblastoma9.7
42obesity9.7
43achondroplasia9.7
44cherubism9.7
45testicular microlithiasis9.7
46williams-beuren syndrome9.7
47werner syndrome9.7
48otitis media9.7
49costello syndrome9.7
50angelman syndrome9.7

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



Diseases related to fragile x syndrome

Symptoms for Fragile X Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

300624

Clinical features from OMIM:

300624

Symptoms:

 51 (show all 27)
  • chronic/relapsing otitis
  • flat foot
  • macroorchidism/macrotestes
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperextensible joints/articular hyperlaxity
  • x-linked dominant inheritance
  • fragile chromosome x site
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • frontal bossing/prominent forehead
  • narrow face
  • long face
  • prognathism/prognathia
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • prominent/bat ears
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • hypotonia
  • hyperactivity/attention deficit
  • strabismus/squint
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • aortic root dilatation/dilation/aneurysm
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autism/autistic disoders
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychosis/schizophrenia/maniac disorder
  • auto-aggressivity/auto-mutilation

HPO human phenotypes related to Fragile X Syndrome:

(show all 43)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 neurological speech impairment hallmark (90%) HP:0002167
3 pes planus hallmark (90%) HP:0001763
4 joint hypermobility hallmark (90%) HP:0001382
5 otitis media hallmark (90%) HP:0000388
6 macroorchidism hallmark (90%) HP:0000053
7 attention deficit hyperactivity disorder typical (50%) HP:0007018
8 intellectual disability, moderate typical (50%) HP:0002342
9 frontal bossing typical (50%) HP:0002007
10 muscular hypotonia typical (50%) HP:0001252
11 abnormality of the pinna typical (50%) HP:0000377
12 mandibular prognathia typical (50%) HP:0000303
13 long face typical (50%) HP:0000276
14 narrow face typical (50%) HP:0000275
15 macrocephaly typical (50%) HP:0000256
16 sinusitis typical (50%) HP:0000246
17 self-injurious behavior occasional (7.5%) HP:0100716
18 dilatation of the ascending aorta occasional (7.5%) HP:0005111
19 cerebral cortical atrophy occasional (7.5%) HP:0002120
20 abnormality of the mitral valve occasional (7.5%) HP:0001633
21 seizures occasional (7.5%) HP:0001250
22 autism occasional (7.5%) HP:0000717
23 strabismus occasional (7.5%) HP:0000486
24 congenital macroorchidism HP:0008640
25 periventricular gray matter heterotopia HP:0007165
26 folate-dependent fragile site at xq28 HP:0003564
27 scoliosis HP:0002650
28 abnormal head movements HP:0002457
29 macroorchidism, postpubertal HP:0002050
30 large forehead HP:0002003
31 pes planus HP:0001763
32 mitral valve prolapse HP:0001634
33 joint laxity HP:0001388
34 seizures HP:0001250
35 poor eye contact HP:0000817
36 pectus excavatum HP:0000767
37 hyperactivity HP:0000752
38 autism HP:0000717
39 macrotia HP:0000400
40 mandibular prognathia HP:0000303
41 coarse facial features HP:0000280
42 long face HP:0000276
43 macrocephaly HP:0000256

UMLS symptoms related to Fragile X Syndrome:


agitation, head movements abnormal, joint laxity, seizures

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 83)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Riluzoleapproved, investigationalPhase 4591744-22-55070
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 Hydrochloride
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
2
DopamineapprovedPhase 4308462-31-7, 51-61-6681
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 Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3
Risperidoneapproved, investigationalPhase 4477106266-06-25073
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
Risperdal M-tab
Risperidal
Risperidal M-Tab
Risperidona
Risperidona [Spanish]
Risperidone
Risperidone (JAN/USAN/INN)
Risperidone (RIS)
Risperidone M-tab
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 4364113-45-14158
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 Hydrochloride
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
Quillivant XR
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 25975330-75-553232
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
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
nchembio742-comp5
nchembio790-comp14
nchembio869-comp12
6Excitatory Amino Acid AntagonistsPhase 41095
7Neurotransmitter Uptake InhibitorsPhase 4, Phase 22857
8AnticonvulsantsPhase 42249
9Excitatory Amino AcidsPhase 41109
10Protective AgentsPhase 4, Phase 25651
11Neuroprotective AgentsPhase 4, Phase 21376
12Neurotransmitter AgentsPhase 4, Phase 2, Phase 114795
13Dopamine AgentsPhase 43084
14Dopamine Uptake InhibitorsPhase 4925
15Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 4, Phase 21804
16DihydromevinolinPhase 4, Phase 259
17AntimetabolitesPhase 4, Phase 29454
18Central Nervous System StimulantsPhase 41721
19Hypolipidemic AgentsPhase 4, Phase 22228
20L 647318Phase 4, Phase 259
21Anticholesteremic AgentsPhase 4, Phase 21732
22
BaclofenapprovedPhase 3, Phase 2911134-47-02284
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
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
Gablofen
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
23
Acamprosateapproved, investigationalPhase 3, Phase 23877337-76-971158
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 Calcium
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
24Phase 3, Phase 2
25
Aripiprazoleapproved, investigationalPhase 2342129722-12-960795
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
Abilify Discmelt
Abilify Maintena
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
26
DonepezilapprovedPhase 2, Phase 1271120014-06-43152
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 Hydrochloride
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
27
SertralineapprovedPhase 228279617-96-268617
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)-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
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)
28
Minocyclineapproved, investigationalPhase 217310118-90-85281021
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
Arestin
BRN 3077644
Bio-0062
Borymycin
C07225
C23H27N3O7
CHEBI:50694
CHEBI:529981
CHEMBL1434
CHEMBL259172
CID5281021
CL 59806
CRL-1605 & Minocycline
D05045
Dynacin
HMS2090D03
HSDB 3130
LMPK07000002
 
LS-93850
Lactoferrin B & Minocycline
Lactoferrin H & Minocycline
MINO
MIY
Minociclina
Minociclina [INN-Spanish]
Minociclinum
Minocin
Minocin (Hydrochloride)
Minocline
Minocyclin
Minocycline
Minocycline (USAN/INN)
Minocycline Hydrochloride
Minocycline Monohydrochloride
Minocycline [USAN:BAN:INN]
Minocyclinum
Minocyclinum [INN-Latin]
NCGC00178854-01
NSC 141993
NSC141993
Solodyn
UNII-FYY3R43WGO
Vectrin (Hydrochloride)
Ximino
minociclinum
minocycline
nchembio.559-comp1
29
OxytocinapprovedPhase 236650-56-6439302, 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
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)
SID29217903
SID50111741
Syntocinon
Syntocinon (TN)
TI-001
alpha-Hypophamine
nchembio.184-comp2
30
Vitamin Capproved, nutraceuticalPhase 242450-81-75785, 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
AA
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
Antiscorbic vitamin
Antiscorbutic Vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-Cee
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
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
Babor Baborganic Biological Enzyme Cleanser
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 lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
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
Cetane-caps TC
Cetane-caps TD
Cetebe
 
Cetemican
Cevalin
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic Acid
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
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-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic Acid
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
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
e 300
e-300
e300
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
31
Vitamin Eapproved, nutraceuticalPhase 237159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-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)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
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
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
32
Pyridoxineapproved, nutraceuticalPhase 216565-23-61054
Synonyms:
(5-hydroxy-4,6-dimethylpyridin-3-yl)methyl phosphate
12001-78-4
2-Methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine
2-Methyl-3-hydroxy-4,5-di(hydroxymethyl)pyridine
2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin
2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin [German]
2-Methyl-3-hydroxy-4,5-dihydroxymethylpyridine
2-Methyl-4,5-bis(hydroxymethyl)-3-hydroxypyridine
2-methyl-3-hydroxy-4,5-bis(hydroxy-methyl) pyridine
2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine
2-methyl-4,5-dimethylol-pyridin-3-ol
2B3E07D2-E4CC-4CC5-B085-6070BA01F9F0
3,4-Pyridinedimethanol, 5-hydroxy-6-methyl-, hydrochloride
3-Hydroxy-2-Picoline-4,5-dimethanol
3-Hydroxy-4,5-dihydroxymethyl-2-methylpyridine hydrochloride
3-Hydroxy-4,5-dimethylol-.alpha.-picoline hydrochloride
3-Hydroxy-4,5-dimethylol-alpha-picoline
3-Hydroxy-4,5-dimethylol-alpha-picoline hydrochloride
3-hydroxy-4,5-bis(hydroxymethyl)-2-methylpyridine
4,5-Bis(hydroxymethyl)-2-methyl-3-pyridinol
4,5-Bis(hydroxymethyl)-2-methylpyridin-3-ol hydrochloride
4,5-bis(hydroxymethyl)-2-methyl-3-pyridinol hydrochloride
4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol
4,5-bis(hydroxymethyl)-2-methylpyridine-3-ol
4-Deoxypyridoxine 5'-phosphate
47862_SUPELCO
5-Hydroxy-6-methyl-3,4-pyridinedicarbinol hydrochloride
5-Hydroxy-6-methyl-3,4-pyridinedimethanol
5-Hydroxy-6-methyl-3,4-pyridinedimethanol hydrochloride
5-Hydroxy-6-methyl-3,4-pyridinedimethanol, hydrochloride
58-56-0
58-56-0 (HCL)
58-56-0 (hydrochloride)
65-23-6
65-23-6 (Parent)
8059-24-3
85078-23-5
AC-12024
AC-14512
AC-907/25014218
AC1L1AMH
AC1L1LMI
AC1L2XK2
AC1Q22HP
AC1Q2G66
AC1Q3F63
AI3-19016
AIDS-006784
AIDS006784
AR-1A6363
AR-1J1632
Adermin hydrochloride
Adermine
Adermine hydrochloride
Aderomine hydrochloride
Aderoxin
Aderoxine
Alestrol
BB_NC-0050
BIDD:PXR0180
BPBio1_000646
BSPBio_000586
Becilan
Beesix
Benadon
Bonasanit
C00314
C8H11NO3
CAS-58-56-0
CBDivE_015627
CCRIS 1903
CHEBI:16709
CHEBI:30961
CHEMBL1200756
CHEMBL1364
CID104817
CID1054
CID6019
CPD0-1221
Campoviton 6
Cernevit-12
D02179
D025101
D08454
DB00165
EINECS 200-386-2
EINECS 200-603-0
EINECS 232-503-8
Godabion
Gravidox
HMS1569N08
HMS2093L07
HSDB 1212
Hexa-Betalin
Hexa-Betalin (R)
Hexa-betalin (TN)
Hexabetalin
Hexabione hydrochloride
Hexavibex
 
Hexermin
Hexermine
Hexobion
Hydoxin
I02-1897
I02-2297
KST-1A8556
LS-134393
LS-187072
LS-2332
MLS001074329
MLS002153915
MolPort-002-137-856
MolPort-002-319-991
MolPort-005-933-330
NCGC00016261-01
NCGC00164317-01
NCGC00180946-01
NSC 36225
NSC36225
NSC36225 (HCL)
Nestrex
Oprea1_061614
P0561
P4722_SIAL
P5669_SIGMA
P6280_SIGMA
P8666_SIGMA
P9755_SIAL
PN
PN HCl
PYRIDOXINE HYDROCHLORIDE
PYRIDOXINE HYDROCHLORIDE, U.S.P.
Paxadon
Piridossina
Piridossina [DCIT]
Piridoxina
Piridoxina [INN-Spanish]
Prestwick0_000623
Prestwick1_000623
Prestwick2_000623
Prestwick3_000623
Prestwick_925
Pydox
Pyridipca
Pyridox
Pyridoxin
Pyridoxin hydrochloride
Pyridoxine
Pyridoxine (INN)
Pyridoxine HCl
Pyridoxine Hydrochloride
Pyridoxine Hydrochloride (B6)
Pyridoxine [INN:BAN]
Pyridoxine chloride
Pyridoxine hydrochloride
Pyridoxine hydrochloride (JP15/USP)
Pyridoxine hydrochloride [USAN:JAN]
Pyridoxine hydrogen chloride
Pyridoxine monohydrochloride
Pyridoxine, hydrochloride
Pyridoxine-HCl Microencapsulated
Pyridoxinium chloride
Pyridoxinum
Pyridoxinum [INN-Latin]
Pyridoxinum hydrochloricum
Pyridoxinum hydrochloricum (Hungarian)
Pyridoxol
Pyridoxol hydrochloride
Pyridoxol, hydrochloride
Pyridoxolum
Rodex
Rodex (R)
Rodex TD
SMP2_000230
SMR000674613
SPBio_002805
STK177324
STOCK1N-08684
Spondylonal
Tex Six T.R.
TimTec1_000657
UNII-68Y4CF58BV
UNII-KV2JZ1BI6Z
Vitamin B 6
Vitamin B6
Vitamin B6-hydrochloride
Vitamin V6
Vitamin V6 (TN)
Vitamin-?B6
Vitamin-?B6 hydrochloride
Vitaped
WLN: T6NJ B1 CQ D1Q E1Q &GH
ZINC00049154
ZINC21983293
bmse000288
c1302
component of Alestrol
nchembio.93-comp1
pyridoxine
vitamin B6
33Contraceptives, OralPhase 23734
34Anti-Bacterial AgentsPhase 29140
35Anti-Infective AgentsPhase 217220
36Cholinergic AgentsPhase 2, Phase 13243
37Cholinesterase InhibitorsPhase 2, Phase 1498
38Nootropic AgentsPhase 2, Phase 1604
39
Epigallocatechin gallatePhase 256989-51-565064
Synonyms:
(-)-Epigallocatechin gallat
(-)-Epigallocatechin gallate
(-)-Epigallocatechin-3-O-gallate
(-)-Epigallocatechol gallate
(-)-Epigallocatehin gallate
Catechin deriv.
 
EGCG
Epigallocatcchin Gallate
Epigallocate
Epigallocatechin 3-gallate
Epigallocatechin Gallate
Epigallocic acid
Galloyl-L-epigallocatechol
Tea catechin
40Central Nervous System DepressantsPhase 210016
41EstrogensPhase 22144
42Antipsychotic AgentsPhase 22130
43Tranquilizing AgentsPhase 23597
44Pharmaceutical SolutionsPhase 27004
45Trace ElementsPhase 23900
46VitaminsPhase 23857
47TocotrienolsPhase 2372
48TocopherolsPhase 2376
49MicronutrientsPhase 23901
50Antidepressive AgentsPhase 22367

Interventional clinical trials:

(show top 50)    (show all 60)
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
4Acamprosate in Youth With Fragile X SyndromeCompletedNCT01300923Phase 3
5Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X SyndromeCompletedNCT01282268Phase 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
8Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)TerminatedNCT01433354Phase 2, Phase 3
9An Open Label Extension Study in Subjects With Fragile X SyndromeTerminatedNCT01555333Phase 3
10Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X SyndromeCompletedNCT01357239Phase 2
11Safety and Efficacy of AFQ056 in Adult Patients With Fragile X SyndromeCompletedNCT01253629Phase 2
12Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X SyndromeCompletedNCT01329770Phase 2
13Effects of CX516 on Functioning in Fragile X Syndrome and AutismCompletedNCT00054730Phase 2
14Trial of Sertraline to Treat Children With Fragile X SyndromeCompletedNCT01474746Phase 2
15Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X SyndromeCompletedNCT00788073Phase 2
16A Safety Study of NNZ-2566 in Patients With Fragile X SyndromeCompletedNCT01894958Phase 2
17Double-blind Placebo Controlled Study of Oxytocin in Fragile X SyndromeCompletedNCT01254045Phase 2
18Randomized Controlled Study of Donepezil in Fragile X SyndromeCompletedNCT01120626Phase 2
19A Study of RO4917523 in Patients With Fragile X SyndromeCompletedNCT01517698Phase 2
20A Study of RO4917523 in Pediatric Patients With Fragile X SyndromeCompletedNCT01750957Phase 2
21A Study With RO4917523 in Patients With Fragile X SyndromeCompletedNCT01015430Phase 2
22Open 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
23Aripiprazole in Fragile X SyndromeCompletedNCT00420459Phase 2
24Efficacy, Safety and Tolerability of AFQ056 in Fragile X PatientsCompletedNCT00718341Phase 2
25Estrogen Receptors Beta (ER-B) as Therapeutic Targets for the Improvement of Cognitive Performance in Fragile-X (TESXF)CompletedNCT01855971Phase 2
26Effects of Social Gaze Training on Brain and Behavior in Fragile X SyndromeRecruitingNCT02616796Phase 1, Phase 2
27Ganaxolone Treatment in Children With Fragile X SyndromeActive, not recruitingNCT01725152Phase 2
28A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X SyndromeActive, not recruitingNCT02126995Phase 2
29Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With AllopregnanoloneEnrolling by invitationNCT02603926Phase 2
30Combined Treatment of Minocycline and Lovastatin to Treat Individuals With Fragile X SyndromeNot yet recruitingNCT02680379Phase 2
31Citocoline for Treatment of FXTASNot yet recruitingNCT02197104Phase 2
32A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X SyndromeSuspendedNCT01325740Phase 2
33An Open Label Extension Study of STX209 in Subjects With Fragile X SyndromeTerminatedNCT01013480Phase 2
34Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X SyndromeTerminatedNCT01348087Phase 2
35Clinical 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
36An Open-Label Trial of Donepezil in Fragile X SyndromeCompletedNCT00220584Phase 1
37A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107CompletedNCT00965432Phase 1
38A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric ConditionsRecruitingNCT00870974Phase 1
39Parents Resources for Decreasing the Incidence of Change Triggered Temper OutburstsRecruitingNCT02567357Phase 1
40Glutaminergic Transmission in Autism : Molecular Imaging ExplorationNot yet recruitingNCT02719951Phase 1
41Trial of Minocycline to Treat Children With Fragile X SyndromeCompletedNCT01053156
42Add-on Pilot Trial of Minocycline to Treat Fragile X SyndromeCompletedNCT00858689
43Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001CompletedNCT00823368
44Biomarker and DNA Collection in Subjects Participating in Protocol 22003CompletedNCT00892580
45Brain Connectivity in Neurodevelopmental Disorders in Response to TreatmentCompletedNCT01364818
46Examining Social, Emotional, and Cognitive Functioning in People With Fragile X and Down SyndromesCompletedNCT00879515
47Microarray Analysis in Syndromic ObesityCompletedNCT01043198
48Protein Synthesis in the Brain of Patients With Fragile X SyndromeRecruitingNCT00362843
49Decisional Capacity and Informed Consent in Fragile X SyndromeRecruitingNCT02465931
50Teaching Math Skills to Individuals With Fragile X SyndromeRecruitingNCT01204151

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 X-Linked Mental Retardation Associated with Fragile Site Fraxe22 AFF2
2 Fragile X Syndrome22 FMR1

Anatomical Context for Fragile X Syndrome

About this section

MalaCards organs/tissues related to Fragile X Syndrome:

33
Brain, Testes, Heart, Eye, Liver, Breast, Bone

Animal Models for Fragile X Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Fragile X Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.4BDNF, DICER1, FMR1, FXR1, FXR2, GRM1
2MP:00107719.4BDNF, DICER1, FMR1, FXR2, GRIA1, GRM5
3MP:00036318.8BDNF, CYFIP1, CYFIP2, DICER1, FMR1, FXR2
4MP:00053868.6BDNF, CYFIP1, CYFIP2, DICER1, FMR1, FXR1

Publications for Fragile X Syndrome

About this section

Articles related to Fragile X Syndrome:

(show top 50)    (show all 777)
idTitleAuthorsYear
1
Language development in infants and toddlers with fragile x syndrome: change over time and the role of attention. (25715182)
2015
2
Analysis of AGG interspersion of the FMR1 gene in fragile X syndrome]. (25636091)
2015
3
Fragile X syndrome: economic burden and health-related quality of life of patients and caregivers in France. (26369667)
2015
4
Modulation of the GABAergic pathway for the treatment of fragile X syndrome. (25258535)
2014
5
R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome. (24787137)
2014
6
The contribution of inhibitory interneurons to circuit dysfunction in Fragile X Syndrome. (25202236)
2014
7
A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier. (23574351)
2013
8
Electrocortical changes associated with minocycline treatment in fragile X syndrome. (23981511)
2013
9
Physiological arousal in autism and fragile x syndrome: group comparisons and links with pragmatic language. (24432860)
2013
10
Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome. (24252602)
2013
11
A neurodevelopmental perspective on the acquisition of nonverbal cognitive skills in adolescents with fragile X syndrome. (24138215)
2013
12
Visual-spatial learning impairments are associated with hippocampal PSD-95 protein dysregulation in a mouse model of fragile X syndrome. (24323121)
2013
13
FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. (24028275)
2013
14
Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS). (22958782)
2012
15
The role of glycogen synthase kinase-3 signaling in neurodevelopment and fragile X syndrome. (23071871)
2012
16
Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice. (23083736)
2012
17
Behavioral phenotype of fragile X syndrome in adolescence and adulthood. (22264109)
2012
18
Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology. (21211940)
2011
19
Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role? (21890420)
2011
20
Amygdala regulation of fear and emotionality in fragile X syndrome. (21893939)
2011
21
The psychiatric presentation of fragile x: evolution of the diagnosis and treatment of the psychiatric comorbidities of fragile X syndrome. (21893938)
2011
22
Targeted treatments for fragile X syndrome. (21484200)
2011
23
ACOG Committee Opinion No. 469: Carrier screening for fragile X syndrome. (20859177)
2010
24
Associating neural alterations and genotype in autism and fragile x syndrome: incorporating perceptual phenotypes in causal modeling. (20872060)
2010
25
Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures. (20687826)
2010
26
Using perceptual signatures to define and dissociate condition-specific neural etiology: autism and fragile X syndrome as model conditions. (20886276)
2010
27
Characterization and reversal of synaptic defects in the amygdala in a mouse model of fragile X syndrome. (20534533)
2010
28
The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome. (19465392)
2009
29
A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome. (19853235)
2009
30
Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats. (18957433)
2009
31
A review of mathematical learning disabilities in children with fragile X syndrome. (19213014)
2009
32
Molecular analysis of Fragile X syndrome. (19806593)
2009
33
Brief report: aggression and stereotypic behavior in males with fragile X syndrome--moderating secondary genes in a "single gene" disorder. (17340199)
2008
34
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. (18627038)
2008
35
The Epigenetics of Fragile X Syndrome. (18371387)
2007
36
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. (17166801)
2007
37
Mathematics learning disability in girls with Turner syndrome or fragile X syndrome. (16500739)
2006
38
The fragile X syndrome: exploring its molecular basis and seeking a treatment. (16626504)
2006
39
Cognitive aspects in girls with fragile X syndrome]. (15011155)
2004
40
A step-wise diagnosis of fragile X syndrome in Taiwan. (15335113)
2004
41
Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome. (12232854)
2002
42
Diagnosis of fragile X syndrome]. (12447811)
2001
43
Sequence-specific RNA binding by a Nova KH domain: implications for paraneoplastic disease and the fragile X syndrome. (10676814)
2000
44
Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG. (10660959)
1999
45
Fragile X syndrome is less common than previously estimated. (9032640)
1997
46
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. (7726157)
1995
47
Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. (8301764)
1994
48
Cytogenetic studies in fragile X syndrome]. (1437821)
1992
49
50

Variations for Fragile X Syndrome

About this section

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

67
id Symbol AA change Variation ID SNP ID
1FMR1p.Ile304AsnVAR_005234

Clinvar genetic disease variations for Fragile X Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_002024.5(FMR1): c.-128_-126(200)NT expansionPathogenicGRCh38Chr X, 147912052: 147912054
2FMR1NC_000023.9: g.146703942_146820448deldeletionPathogenicNCBI36Chr X, 146703942: 146820448
3FMR1FMR1, SER27TERsingle nucleotide variantPathogenic
4FMR1NM_002024.5(FMR1): c.911T> A (p.Ile304Asn)single nucleotide variantPathogenicrs121434622GRCh37Chr X, 147018053: 147018053
5FMR1FMR1, 1-BP DEL, 373AdeletionPathogenic
6FMR1FMR1, IVS2AS1, G-T, -1 AND G-A, +1single nucleotide variantPathogenic
7FMR1FMR1, (CGG)n EXPANSIONNT expansionPathogenic

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
110.2GRM1, GRM5
210.0GRIA1, GRM1, GRM5
39.8BDNF, CYFIP1, EIF4E, GRIA1
49.4CYFIP1, CYFIP2, EIF4E, FMR1, FRAXA, FXR1

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:

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:00430059.7CYFIP1, FMR1, GRIA1, GRM1, GRM5, SLC6A4
2postsynaptic densityGO:00140699.7GRIA1, GRM1, GRM5
3dendriteGO:00304259.7DICER1, FMR1, FXR1, GRIA1, GRM1

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

idNameGO IDScoreTop Affiliating Genes
1behavioral fear responseGO:000166210.1EIF4E, MECP2
2regulation of synaptic transmission, glutamatergicGO:005196610.1GRM1, GRM5

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

idNameGO IDScoreTop Affiliating Genes
1mRNA 3-UTR bindingGO:000373010.4FMR1, FXR1
2protein heterodimerization activityGO:004698210.3FMR1, FXR1
3siRNA bindingGO:003519710.0DICER1, FMR1, MECP2
4RNA bindingGO:00037239.6DICER1, FMR1, FXR1, FXR2

Sources for Fragile X Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet