Summaries for Fragile X Syndrome

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30NIH Rare Diseases, 23MedlinePlus, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards
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MedlinePlus: Fragile x syndrome is the most common form of inherited mental retardation. a problem with a specific gene causes the disease. normally, the gene makes a protein you need for brain development. but the mutation causes a person to make little or none of the protein, which results in 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 mental retardation social and emotional problems, such as aggression in boys or shyness in girls speech and language problems, especially in boys fragile x has no cure. you can treat some symptoms with educational, behavioral or physical therapy, and with medicines. getting treatment early for fragile x can help. nih: national institute of child health and human development23

MalaCards: Fragile X Syndrome, also known as fraxa syndrome, is related to mental retardation syndrome and mental retardation, x-linked. An important gene associated with Fragile X Syndrome is FMR1 (fragile X mental retardation 1), and among its related pathways are Glutamic acid signaling and Neuroscience. The compounds hydrofluoric acid and picrotoxin have been mentioned in the context of this disorder. Affiliated tissues include whole blood, brain and t cells, and related mouse phenotypes are no phenotypic analysis and endocrine/exocrine gland.

NIH Rare Diseases: 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.  Fragile X syndrome is caused by a change in the FMR1 gene. Fragile X syndrome is inherited in an X-linked dominant pattern.30

Genetics Home Reference: 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.17

Wikipedia: Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante\'s syndrome (more commonly called in...44 more...

OMIM: 300624

Aliases & Descriptions for Fragile X Syndrome

Sources:
6Disease Ontology, 7diseasecard, 44Wikipedia, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 33OMIM, 32Novoseek , 23MedlinePlus, 2CDC, 43UMLS, 24MeSH, 19ICD9CM, 40SNOMED-CT, 27NCIt
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Aliases & Descriptions:

fragile x syndrome 6 7 44 30 16 17 8 33 32 23 43
fraxa syndrome 44 30 16 17 32 43
martin-bell syndrome 6 44 30 16 17
marker x syndrome 6 44 30 16 17
fxs 44 30 16 17
x-linked mental retardation and macroorchidism 44 30 17
fra(x) syndrome 44 30 17
fragile x mental retardation syndrome 6 16
x-linked mental retardation and macro-orchidism 30
mental retardation, x-linked 43

External Ids:

ICD9CM19 759.83
SNOMED-CT40 390007001, 613003

Related Diseases for Fragile X Syndrome

Sources:
13GeneCards, 14GeneDecks
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Disease types for fragile x syndrome family:

fragile x syndrome type 1 fragile x syndrome type 2
fragile x syndrome type 3 fragile xe syndrome

Diseases related to fragile x syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 211)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation syndrome34.7FXR1, FXR2, FMR1, MECP2, NRF1, HELLS
2mental retardation, x-linked33.4FTSJ1, FRAXE, MECP2, DLG3, TSPAN7, AFF2
3mental retardation, x-linked, fraxe type32.4FRAXE, AFF2
4premature ovarian failure31.8FRAXA, FRAXE, FMR1, GNRH1, AFF2
5fragile x-associated tremor/ataxia syndrome31.4FRAXA, FMR1
6ppm-x syndrome31.3BDNF, GRM1, MAOA, SLC6A4
7developmental disabilities29.0BDNF, FMR1, MECP2, MAOA, HPRT1
8huntington's disease28.5BDNF, ATN1, HTT, AKT1, EIF2AK2
9myotonic dystrophy28.2FMR1, HTT, AKT1, PPP1R12A, EIF2AK2, SIX5
10ataxia26.2ATN1, FXR2, FRAXA, FMR1, MECP2, GRM1
11colorectal cancer20.5BDNF, FXR1, MECP2, GRM1, MAOA, MAPK1
12neuronitis18.1RABEP2, PAH, BDNF, KCNF1, KCNG1, ATN1
13fragile xe syndrome13.7FMR1, AFF2
14pervasive developmental disorder13.6FRAXA, FRAXE, MECP2, TMEM185A, SLC6A4
15autistic disorder13.5BDNF, FMR1, MECP2, SLC6A4
16bipolar disorder13.3BDNF, SLC6A4
17multiple system atrophy13.3BDNF, ATN1, FRAXA, FMR1, MAP1B, HTT
18neurotic disorder13.3BDNF, MAOA, SLC6A4
19postpartum depression13.3BDNF, MAOA, SLC6A4
20retrograde amnesia13.2RABEP2, MAPK1, SLC6A4
21attention deficit hyperactivity disorder13.2BDNF, FMR1, MAOA, SLC6A4
22anxiety disorder13.2BDNF, FMR1, MAOA, SLC6A4
23heroin dependence13.2BDNF, MAOA, SLC6A4, GABRA1
24borderline personality disorder13.2BDNF, MAOA, SLC6A4
25growth mental deficiency syndrome of myhre13.2BDNF, MECP2, MAOA, TMEM185A, SLC6A4
26x inactivation13.0FMR1, MECP2, HPRT1, HIST4H4, SLC6A8
27bulimia nervosa13.0BDNF, MAOA, ST14, SLC6A4
28drug addiction13.0BDNF, GRM5, MAPK1
29schizoaffective disorder12.9BDNF, MAOA, SLC6A4, GABRA1
30olivopontocerebellar atrophy12.9ATN1, FRAXA, FMR1, HTT, AKT1, AFF2
31autism spectrum disorder12.9BDNF, MECP2, MAOA, DLG3, TSPAN7, SLC6A8
32substance dependence12.9BDNF, GRIA1, GRIK1, MAOA, SLC6A4
33was-related disorders12.7BDNF, FMR1, MECP2, GNRH1, NR1H4, WRN
34status epilepticus12.7BDNF, ATN1, GRIA1, GRM5
35mood disorder12.7BDNF, MAOA, SLC6A4, GABRA1
36tardive dyskinesia12.6PAH, BDNF, MAOA, AKT1, SLC6A4
37alcohol dependence12.6BDNF, GRIK1, GRM5, MAOA, SLC6A4, GABRA1
38temporal lobe epilepsy12.5BDNF, GRIK1, GRM1, GRM5
39central nervous system disease12.5BDNF, GRM1, GRM5, HPRT1, SLC6A4
40mayer-rokitansky-kuster-hauser syndrome12.4PAH, FRAXA, FMR1, MECP2, HTT, HPRT1
41bloom syndrome12.4HPRT1, EIF4E, HELLS, WRN
42major depressive disorder12.3BDNF, GRIK1, MAOA, HTT, AKT1, SLC6A4
43tuberous sclerosis12.3PAH, MECP2, MAPK1, MAP1B, AKT1, EIF4E
44down syndrome12.3RABEP2, BDNF, FMR1, MECP2, GRIK1, GRM5
45intractable epilepsy12.2BDNF, GRM1, GRM5, MAPK1, SLC6A8
46anorexia nervosa12.1PAH, BDNF, GRIA1, GRM5, MAOA, MAPK1
47twinning12.1BDNF, ATN1, FRAXE, FMR1, MECP2, MAOA
48pick's disease12.0BDNF, GRM1, MAOA, MAPK1, HTT
49albinism11.9GRIA1, GRM1, GRM5, HTT, HPRT1, TYMS
50brain injury11.8RABEP2, BDNF, GRIK1, MAOA, MAPK1, AKT1

Graphical network of the top 20 diseases related to fragile x syndrome:



Graphical network of diseases related to fragile x syndrome

Clinical Features for Fragile X Syndrome

Sources:
33OMIM
See all sources
Clinical features from OMIM: 300624

Drugs & Therapeutics for Fragile X Syndrome

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for fragile x syndrome

Drug clinical trials:

Search ClinicalTrials for fragile x syndrome

Search NIH Clinical Center for fragile x syndrome

Search CenterWatch for fragile x syndrome

Genetic Tests for Fragile X Syndrome

Sources:
16GeneTests
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Genetic tests related to fragile x syndrome:

id Genetic test Affiliating Genes
1 Fragile X Syndrome
clinical/research
FMR1, FRAXA

Anatomical Context for Fragile X Syndrome

Sources:
22MalaCards
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MalaCards organs/tissues related to fragile x syndrome:

22
Whole blood, Brain, T cells, Temporal lobe

Phenotypes for genes affiliated with Fragile X Syndrome

Sources:
25MGI
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Publications for genes affiliated with Fragile X Syndrome

Sources:
35PubMed
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Articles related to fragile x syndrome:

(show top 50)    (show all 206)
idTitleAuthorsYearAffiliating Genes
1Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ 056. (21209411)Jacquemont S.... Gomez-Mancilla B.2011FMR1
2Whole-brain expression analysis of FMRP in adult monk ey and its relationship to cognitive deficits in fragile X syndrome. (19368811)Zangenehpour S.... Chaudhuri A.2009FMR1
3Molecular analysis of Fragile X syndrome. (19806593)Basehore M.J.... Friez M.J.2009FMR1
4A mouse model of the human Fragile X syndrome I304N m utation. (20011099)Zang J.B.... Darnell R.B.2009FMR1
5Abnormal striatal GABA transmission in the mouse mode l for the fragile X syndrome. (18028882)Centonze D.... Bagni C.2008FMR1
6Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome. (18427356)Tejada M.I.... Ramos F.2008FMR1
7Aberrant early-phase ERK inactivation impedes neuronal function in fragile X syndrome. (18332424)Kim S.H.... Greenough W.T.2008MAPK1, PPP2R4
8Longitudinal changes in intellectual development in c hildren with Fragile X syndrome. (18347972)Hall S.S.... Reiss A.L.2008FMR1
9Age-dependent cognitive changes in carriers of the fragile X syndrome. (18472033)Cornish K.M.... Hagerman P.J.2008FMR1
10A novel polymorphism in the FMR1 gene: implications for clinical testing of fragile X syndrome. (18181681)Thyagarajan B.... Wang X.2008FMR1
11Whole genome microarray analysis of gene expression in subjects with fragile X syndrome. (17666893)Bittel D.C.... Butler M.G.2007FMR1
12Multiple Gq-coupled receptors converge on a common protein synthesis-dependent long-term depression that is affected in fragile X syndrome mental retardation. (17959805)Volk L.J.... Huber K.M.2007FMR1
13Presynaptic FMR1 genotype influences the degree of sy naptic connectivity in a mosaic mouse model of fragile X syndrome. (17428978)Hanson J.E.... Madison D.V.2007FMR1
14Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome. (16055059)Koekkoek S.K.... De Zeeuw C.I.2005FMR1
15Fragile X syndrome carrier screening in the prenatal genetic counseling setting. (15834242)Cronister A.... Hallam S.2005FRAXA
16Fragile X syndrome. (16010677)Terracciano A.... Neri G.2005FRAXA
17Video analysis of sensory-motor features in infants with fragile X syndrome at 9-12 months of age. (16172809)Baranek G.T.... Mirrett P.L.2005FMR1
18Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France. (15326620)Biancalana V.... Mandel J.L.2004FRAXA
19Frontostriatal deficits in fragile X syndrome: relation to FMR1 gene expression. (14993603)Menon V.... Reiss A.L.2004FMR1
20A step-wise diagnosis of fragile X syndrome in Taiwan. (15335113)Huang Y.T.... Hwu W.L.2004FRAXA
21Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait. (16201716)Bastaki L.A.... Naguib K.K.2004FRAXE, FRAXA
22Autistic-like behaviour profile and psychiatric morbidity in Fragile X Syndrome: a prospective ten-year follow-up study. (14505067)Sabaratnam M.... Payne S.2003FRAXA
23FMRP immunodetection on hair roots: application to t he diagnosis of fragile X syndrome (14588214)RifAc Soler M.... Mila Recasens M.2003FMR1
24Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. (11854169)Dombrowski C.... Rousseau F.2002FMR1
25Epilepsy in fragile X syndrome. (12418611)Berry-Kravis E.2002FMR1
26Molecular pathogenesis of fragile X syndrome (12810982)Sielska D.... Bal J.2002FMR1
27Alterations in the auditory startle response in Fmr1 targeted mutant mouse models of fragile X syndrome. (11814427)Nielsen D.M.... Crnic L.S.2002FMR1
28Fragile X syndrome in Calcutta, India. (11392502)Saha S.... Dasgupta U.B.2001FRAXA
29An assessment of screening strategies for fragile X syndrome in the UK. (11262423)Pembrey M.E.... Turner G.2001FMR1
30Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles. (11030419)CastellvA--Bel S.... Mila M.2000FMR1
31Molecular mechanisms of fragile X syndrome. (11019488)Inoue S.B.... Siomi H.2000FMR1
32Dissecting FMR1, the protein responsible for fragile X syndrome, in its structural and functional domains. (10496225)Adinolfi S.... Pastore A.1999FMR1
33Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. (10319871)Coffee B.... Reines D.1999FMR1, MECP2, HIST4H4
34Noninvasive test for fragile X syndrome, using hair root analysis. (10364521)Willemsen R.... Oostra B.A.1999FMR1
35FMRP expression as a potential prognostic indicator in fragile X syndrome. (10331602)Tassone F.... Taylor A.K.1999FMR1
36Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome. (9829913)Vincent J.B.... Gurling H.M.1998FMR1
37FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. (9659908)Feng Y.... Warren S.T.1997FMR1
38The fragile X syndrome. (9211186)Hoogeveen A.T.... Oostra B.A.1997FMR1
39Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome. (9375856)Wang Y.-C.... Li S.-Y.1997FMR1
40Fragile X syndrome and deletions in FMR1: new case and review of the literature. (9375726)Hammond L.S.... Shashidhar Pai G.1997FMR1
41A genetic and molecular study of 85 families affected with the fragile X syndrome (8830601)Mila Recasens M.... Estivill Palleja X.1996FRAXA
42Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. (7670500)Lugenbeel K.A.... Nelson D.L.1995FMR1
43Rett-like syndrome in fragile X syndrome. (8588847)Alembik Y.... Stoll C.1995FRAXA
44Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples. (8559749)CastellvA--Bel S.... Estivill X.1995FMR1
45Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. (8156595)Siomi H.... Dreyfuss G.1994FMR1, HNRNPK
46Genotype-phenotype relationships in fragile X syndrome: a family study. (8213832)Loesch D.Z.... Sutherland G.R.1993FMR1
47Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. (8515814)Verheij C.... Oostra B.A.1993FMR1
48High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. (8268919)Hornstra I.K.... Yang T.P.1993FMR1, CGGBP1
49Association of fragile X syndrome with delayed replication of the FMR1 gene. (8324827)Hansen R.S.... Laird C.D.1993FMR1
50Fragile X syndrome without CCG amplification has an FMR1 deletion. (1302032)Gedeon A.K.... Sutherland G.R.1992FMR1

Expression for genes affiliated with Fragile X Syndrome

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Fragile X Syndrome

Pathways for genes affiliated with Fragile X Syndrome

Sources:
10EMD Millipore, 3Cell Signaling Technology, 20KEGG, 36QIAGEN
See all sources

Compounds for genes affiliated with Fragile X Syndrome

Sources:
32Novoseek , 9DrugBank, 34PharmGKB, 18HMDB, 42Tocris Bioscience
See all sources

Compounds related to fragile x syndrome according to GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1hydrofluoric acid32 10.6SLC6A4, GRM5
2picrotoxin32 9 9 12.3GABRA1, GRIA1, LEO1
3chpg32 10.2GRM5, GRM1
4lithium32 34 9 18 9 14.2SLC6A4, PPP2R4, MAP1B, FMR1, BDNF
52-methyl-6-(phenylethynyl)pyridine32 10.2GRM5, GRM1
6hpaii32 10.2HPRT1, MECP2, FMR1
7ly36738532 10.1GRM5, GRM1
8bicuculline32 10.1GNRH1, LEO1, BDNF
9cyclothiazide32 9 9 12.1GRIK1, GRIA1, BDNF
10folate32 9.9PAH, FMR1, MECP2, HPRT1, TYMS, AFF2
11maoa32 9.9SLC6A4, MAOA, BDNF
12pentobarbital32 9 9 11.9GABRA1, GRIA1, LEO1
13quisqualate32 9 9 11.8GRM5, GRM1, BDNF
14mhpg32 9.8SLC6A4, GNRH1, MAOA, BDNF
15cocaine32 9 9 11.8SLC6A4, GNRH1, GRM5, GRIA1, BDNF, RABEP2
16alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid32 9.8GRM5, GRM1, GRIA1, BDNF
17homovanillic acid32 18 10.7SLC6A4, MAOA, BDNF
18fluvoxamine32 34 9 9 12.7BDNF, MAOA, SLC6A4
19alanine32 9.6SLC6A4, HELLS, EIF4E, PPP2R4, HTT, MECP2
201 methyl 4 phenylpyridinium32 9.4SLC6A4, MAOA, BDNF
21nocodazole32 42 9 9 12.3PPP1R12A, PPP2R4, AKT1, MAP1B, BDNF
22nitric oxide32 9 18 9 12.2ST14, EIF4E, EIF2AK2, NRF1, PPP1R12A, GRM5
23valine32 9.1SLC6A4, TYMS, AKT1, HPRT1, BDNF, PAH
24glycogen32 18 10.1WNT7A, EIF4E, PPP2R4, AKT1, HTT, MAP1B
25oligonucleotide32 9.0HELLS, EIF4E, EIF2AK2, PPP2R4, HTT, MAP1B
26aicar32 42 9 18 9 13.0TYMS, NRF1, AKT1, MAPK1
27epinephrine32 9 18 9 11.8SLC6A4, EIF4E, AKT1, GNRH1, MAOA, BDNF
28okadaic acid32 42 9.8EIF4E, EIF2AK2, PPP1R12A, PPP2R4, MAPK1, GRM5
29creatinine32 8.8SLC6A8, TYMS, AKT1, HPRT1, HTT, FMR1
30gnrh32 8.5SLC6A4, PPP2R4, AKT1, GNRH1, MAPK1, BDNF
31kainate32 8.4HIST4H4, DLG3, GNRH1, HTT, GRM5, GRM1
32rapamycin32 42 9.4EIF4E, PPP2R4, AKT1, HTT, MAPK1, FMR1
33aspartate32 8.2SLC6A4, EIF2AK2, AKT1, GNRH1, GRM5, GRM1
34glutamine32 8.1HIST4H4, HELLS, PPP2R4, AKT1, HPRT1, HTT
35cysteine32 8.1WRN, TYMS, HIST4H4, HELLS, EIF4E, PPP2R4
36testosterone32 9 18 9 11.1HPRT1, AKT1, PPP2R4, NR1H4, SLC6A4, GNRH1
37gaba32 42 9.0BDNF, GABRA1, SLC6A4, PPP2R4, GNRH1, MAP1B
38thapsigargin32 42 8.8EIF2AK2, PPP2R4, AKT1, GNRH1, MAPK1, GRM1
39threonine32 7.5HELLS, EIF4E, EIF2AK2, PPP2R4, AKT1, MAP1B
40dopamine32 9 18 9 10.2HTT, GNRH1, HPRT1, AKT1, PPP2R4, SLC6A4
41adenylate32 7.1HPRT1, AKT1, EIF4E, HIST4H4, TYMS, WRN
42cisplatin32 34 9 9 10.1EIF4E, HELLS, TYMS, WRN, PPP2R4, AKT1
43nmda32 42 8.0HTT, AKT1, DLG3, PPP2R4, SLC6A4, MAP1B
44estrogen32 7.0WNT7A, SLC6A4, HIST4H4, EIF4E, NR1H4, PPP2R4
45arginine32 6.9EIF2AK2, HELLS, HIST4H4, TYMS, SLC6A8, SLC6A4
46retinoic acid32 42 18 8.7HIST4H4, HELLS, EIF4E, EIF2AK2, NR1H4, PPP2R4
47h2o232 6.5WRN, SLC6A4, HIST4H4, HELLS, EIF4E, PPP2R4
48serine32 6.5PPP2R4, EIF2AK2, EIF4E, HELLS, TYMS, ST14
49tyrosine32 5.7HNRNPK, DLG3, PPP2R4, NR1H4, EIF2AK2, EIF4E
50glutamate32 5.3HPRT1, AKT1, DLG3, PPP2R4, EIF2AK2, EIF4E

GO Terms for genes affiliated with Fragile X Syndrome

Sources:
12Gene Ontology
See all sources

Cellular components related to fragile x syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mRNA cap binding complexGO:0058459.7FMR1, CYFIP1, EIF4E
2cell junctionGO:0300549.4CYFIP1, DLGAP3, MAP1B, GRIK1, GRIA1, ATN1

Biological processes related to fragile x syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of synapse assemblyGO:05196510.0BDNF, MECP2, WNT7A
2synaptic transmissionGO:0072687.3KCNF1, GABRA1, DLG3, MAPK1, MAOA, GRM5

Molecular functions related to fragile x syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glutamate receptor activityGO:0080669.3GRIA1, GRM1, GRM5
2protein bindingGO:0055155.2DLGAP3, DICER1, CYFIP1, PPP1R12A, NR1H4, NFYB

Sources for Fragile X Syndrome

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS