FXS
MCID: FRG001
MIFTS: 75

Fragile X Syndrome (FXS) malady

Neuronal diseases, Eye diseases, Endocrine diseases, Fetal diseases categories

Summaries for Fragile X Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 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: Fragile X Syndrome, also known as fraxa syndrome, is related to down syndrome and epilepsy syndrome, and has symptoms including seizures/epilepsy/absences/spasms/status epilepticus, autism/autistic disoders and humour troubles/anxiety/depression/apathy/euphoria/irritability. An important gene associated with Fragile X Syndrome is FMR1 (fragile X mental retardation 1), and among its related pathways are GABA A receptor activation and SIDS Susceptibility Pathways. The compounds hydrofluoric acid and folate have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related mouse phenotypes are endocrine/exocrine gland and integument.

Genetics Home Reference:21 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.

NIH Rare Diseases:42 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. last updated: 6/23/2011

Wikipedia:63 Fragile X syndrome (FXS), also known as Martin–Bell syndrome, or Escalante\'s syndrome (more commonly... more...

Description from OMIM:46 300624

Aliases & Classifications for Fragile X Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 34MeSH, 27ICD9CM, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
fragile x syndrome:
Inheritance: X-linked dominant; Prevalence: 1-5/10000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

fragile x syndrome 8 9 63 42 20 22 21 46 10 44 48 33 60
fraxa syndrome 63 42 21 44 48 60
martin-bell syndrome 8 63 42 21 48
marker x syndrome 8 63 42 21
fxs 63 42 21 48
fra syndrome 63 42 21
x-linked mental retardation and macroorchidism 63 21
x-linked mental retardation and macro-orchidism 42
fragile x mental retardation syndrome 8
frax syndrome 48


External Ids:

Disease Ontology8 DOID:14261
ICD9CM27 759.83
NCIt39 C84717
OMIM46 300624
SNOMED-CT56 390007001, 613003
MESH via Orphanet35 D005600
ICD10 via Orphanet26 Q99.2
SNOMED-CT via Orphanet57 254287005, 613003
UMLS via Orphanet61 C0016667, C0751156

Related Diseases for Fragile X Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Fragile X Syndrome family:

Fragile Xe Syndrome 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/GeneDecks gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1down syndrome30.9FMR1, MECP2
2epilepsy syndrome30.6MAP1B, GRM5, MECP2, FMR1
3intellectual disability30.6TSPAN7, TMEM185A, PAH, FXR2, FXR1, CYFIP1
4premature ovarian failure30.6FMR1
5fragile xe syndrome30.5AFF2, FRAXE
6fragile x-associated tremor/ataxia syndrome30.5FMR1, FRAXA
7attention deficit hyperactivity disorder30.3SLC6A4
8myotonic dystrophy30.3FMR1, HTT, AFF2, SIX5
9adult syndrome10.7
10autism spectrum disorder10.6
11neuronitis10.4
12n syndrome10.4
13williams syndrome10.4
14learning disability10.4
15west syndrome10.3
16prader-willi syndrome10.3
17turner syndrome10.3
18factor x deficiency10.2
19cerebritis10.2
20metabolic syndrome x10.2
21anxiety disorder10.2
22fragile x syndrome type 110.2
23fragile x syndrome type 210.2
24fragile x syndrome type 310.2
25bone fracture10.1
26neurofibromatosis10.1
27rett syndrome10.1
28status epilepticus10.1
29cherubism10.1
30williams-beuren syndrome10.1
31angelman syndrome10.1
32huntington's disease10.1
33achondroplasia10.1
34friedreich ataxia10.1
35werner syndrome10.1
36diabetes insipidus10.1
37premature menopause10.1
38cornelia de lange syndrome10.1
39duchenne muscular dystrophy10.1
40alzheimer's disease10.1
41congenital nystagmus10.1
42mutism10.1
43infertility10.1
44fetal alcohol syndrome10.1
45batten disease10.1
46nephrogenic diabetes insipidus10.1
47adie syndrome10.1
48velocardiofacial syndrome10.1
49dysostosis10.1
50hepatitis10.1

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



Diseases related to fragile x syndrome

Clinical Features for Fragile X Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

300624

Clinical synopsis from OMIM:

300624

Symptoms:

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

Drugs & Therapeutics for Fragile X Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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20GeneTests, 22GTR
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Genetic tests related to Fragile X Syndrome:

id Genetic test Affiliating Genes
1 Fragile X Syndrome20 22 FMR1

Anatomical Context for Fragile X Syndrome

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32MalaCards
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MalaCards organs/tissues related to Fragile X Syndrome:

32
Brain, Testes, Eye, Amygdala, Cerebellum, Cortex, Pituitary, Prefrontal cortex, Heart, Adrenal gland, Skin, Temporal lobe, Thalamus, Hypothalamus

Animal Models for Fragile X Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Fragile X Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.1HTT, MECP2, GRM5, SIX5, FXR1, SLC6A4
2MP:001077110.0PAH, FMR1, HTT, MECP2, AFF2, GRM5
3MP:00053899.9FMR1, HTT, MECP2, GRM5, MAP1B, SIX5
4MP:00036319.8FMR1, HTT, MECP2, AFF2, GRM5, MAP1B
5MP:00053869.8FMR1, HTT, MECP2, AFF2, GRM5, MAP1B
6MP:00053789.6AFF2, MECP2, HTT, FMR1, NR1H4, GRM5

Publications for Fragile X Syndrome

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50PubMed
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Articles related to Fragile X Syndrome:

(show top 50)    (show all 804)
idTitleAuthorsYear
1
BDNF in fragile X syndrome. (23727436)
2014
2
Developmental changes in expression of inhibitory neuronal proteins in the Fragile X Syndrome mouse basolateral amygdala. (24008143)
2013
3
Emotion recognition and visual-scan paths in Fragile X syndrome. (23015109)
2013
4
White matter microstructural abnormalities in girls with chromosome 22q11.2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging. (23602925)
2013
5
A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. (23572165)
2013
6
Cognitive and behavioral correlates of caudate subregion shape variation in fragile X syndrome. (24038999)
2013
7
Pathological plasticity in fragile X syndrome. (22811939)
2012
8
Cortisol response to behavior problems in FMR1 premutation mothers of adolescents and adults with fragile X syndrome: A diathesis-stress model. (22798702)
2012
9
Treatment of fragile X-associated tremor/ataxia syndrome with unilateral deep brain stimulation. (22344717)
2012
10
Using Drosophila as a tool to identify Pharmacological Therapies for Fragile X Syndrome. (23730322)
2012
11
Activation of the extracellular signal-regulated kinase pathway contributes to the behavioral deficit of fragile x-syndrome. (22393900)
2012
12
Fragile X syndrome: a psychiatric perspective. (22009359)
2012
13
Lithium reverses increased rates of cerebral protein synthesis in a mouse model of fragile X syndrome. (22227453)
2012
14
Evidence of a distinct behavioral phenotype in young boys with fragile X syndrome and autism. (23200289)
2012
15
Fragile X syndrome: the FMR1 CGG repeat distribution among world populations. (22188182)
2012
16
Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome. (22268788)
2012
17
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome. (21316452)
2011
18
Aberrant frontal lobe maturation in adolescents with fragile X syndrome is related to delayed cognitive maturation. (21802660)
2011
19
Testing the FMR1 promoter for mosaicism in DNA methylation among CpG sites, strands, and cells in FMR1-expressing males with fragile X syndrome. (21909353)
2011
20
Potential therapeutic interventions for fragile X syndrome. (20864408)
2010
21
PGD for fragile X syndrome: ovarian function is the main determinant of success. (20713414)
2010
22
A Japanese case of fragile-X-associated tremor/ataxia syndrome (FXTAS). (20558944)
2010
23
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
24
Direct magnitude estimation of articulation rate in boys with fragile X syndrome. (19717654)
2009
25
Potential pharmacological treatment of fragile X syndrome during adulthood. (19784085)
2009
26
Assessment of a clinical checklist in the diagnosis of fragile X syndrome in India. (19560928)
2009
27
Methyl-CpG-binding PCR of bloodspots for confirmation of fragile X syndrome in males. (19893637)
2009
28
Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome. (19277853)
2009
29
Hair root fragile X mental retardation protein assay for the diagnosis of fragile X syndrome]. (19849940)
2009
30
Physiological correlates of social avoidance behavior in children and adolescents with fragile x syndrome. (19182690)
2009
31
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. (18627038)
2008
32
Reversing the effects of fragile X syndrome. (18645420)
2008
33
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. (19014369)
2008
34
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. (18686748)
2008
35
A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome. (18213394)
2008
36
Longitudinal changes in intellectual development in children with Fragile X syndrome. (18347972)
2008
37
Fragile X syndrome vs fragile X-associated tremor/ataxia syndrome. (17296852)
2007
38
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. (14747503)
2004
39
A neuropsychological investigation of male premutation carriers of fragile X syndrome. (15381024)
2004
40
New insights into fragile X syndrome: from molecules to neurobehaviors. (12633995)
2003
41
Prevalence of the fragile X syndrome in Yugoslav patients with non-specific mental retardation. (14668200)
2003
42
Epilepsy in fragile X syndrome. (12418611)
2002
43
Functional brain activation during arithmetic processing in females with fragile X Syndrome is related to FMR1 protein expression. (12112763)
2002
44
Premature ovarian failure in the fragile X syndrome. (11449487)
2000
45
Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth. (10208166)
1999
46
Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome. (9829913)
1998
47
Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism. (8541863)
1995
48
Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. (8301764)
1994
49
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. (1642231)
1992
50
Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3. (2988332)
1985

Genetic Variations for Fragile X Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Fragile X Syndrome:

62
id Symbol AA change Variation ID SNP ID
1FMR1p.Ile304AsnVAR_005234

Expression for genes affiliated with Fragile X Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fragile X Syndrome

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

Pathways for genes affiliated with Fragile X Syndrome

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53Reactome, 52R&D Systems, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 4Cell Signaling Technology
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Pathways related to Fragile X Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4GRM5, MECP2
210.3PAH, SLC6A4, MECP2
310.2FMR1, CYFIP1, FXR1, FXR2
410.2FXR2, FXR1, MECP2, HTT, FMR1

Compounds for genes affiliated with Fragile X Syndrome

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 2BitterDB, 59Tocris Bioscience
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Compounds related to Fragile X Syndrome according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1hydrofluoric acid4410.6GRM5, SLC6A4
2folate4410.5PAH, AFF2, MECP2, FMR1
3lithium44 49 11 2413.5SLC6A4, MAP1B, FMR1
4gaba4410.4SLC6A4, MAP1B, GRM5, MECP2, FMR1
5haloperidol44 28 2 49 1114.4GRM5, RABEP2, SLC6A4
6nmda44 2811.4HTT, GRM5, MAP1B, SLC6A4
7hpaii4410.4MECP2, FMR1
8dopamine44 28 11 2413.4HTT, GRM5, RABEP2, SLC6A4, PAH
9testosterone44 59 11 2413.3SLC6A4, NR1H4, MECP2, HTT, FMR1
10oligonucleotide4410.2FMR1, HTT, MECP2, MAP1B, PAH
11glutamate4410.2SLC6A4, GRM5, MECP2, HTT, FMR1
12cocaine44 1111.2GRM5, RABEP2, SLC6A4
13arginine449.9FMR1, MECP2, NR1H4, SLC6A4, PAH

GO Terms for genes affiliated with Fragile X Syndrome

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16Gene Ontology
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Cellular components related to Fragile X Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synapseGO:04520210.3CYFIP1, MAP1B, FMR1
2dendritic spineGO:04319710.2MAP1B, GRM5, FMR1
3mRNA cap binding complexGO:00584510.1CYFIP1, FMR1

Biological processes related to Fragile X Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axon extensionGO:04867510.3CYFIP1, MAP1B
2social behaviorGO:03517610.0SLC6A4, MECP2, HTT

Molecular functions related to Fragile X Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1G-quadruplex RNA bindingGO:00215110.3FXR1, AFF2

Products for genes affiliated with Fragile X Syndrome

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Sources for Fragile X Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet