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

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, Skin, Prefrontal cortex, Heart, Adrenal gland, Hypothalamus, Temporal lobe, Thalamus

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, SLC6A4, FXR1
2MP:001077110.0MAP1B, SLC6A4, FXR2, GRM5, AFF2, MECP2
3MP:00053899.9HTT, MECP2, GRM5, MAP1B, SIX5, FXR1
4MP:00036319.8SLC6A4, FXR2, FMR1, CYFIP1, MAP1B, GRM5
5MP:00053869.8MAP1B, PAH, SLC6A4, FXR2, FXR1, GRM5
6MP:00053789.6SLC6A4, FXR1, MAP1B, GRM5, NR1H4, AFF2

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
Increasing our understanding of human cognition through the study of fragile X syndrome. (23723176)
2014
2
Neurochemical evaluation of brain function with (1) H magnetic resonance spectroscopy in patients with fragile X syndrome. (24259304)
2014
3
Homicide, fragile X syndrome, and mental retardation. (24402223)
2013
4
Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development. (24232444)
2013
5
Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study. (22918986)
2013
6
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome. (23298734)
2013
7
Behavioral phenotype of fragile X syndrome in adolescence and adulthood. (22264109)
2012
8
Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. (22993294)
2012
9
Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of Fragile X Syndrome. (22265702)
2012
10
Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis. (22351071)
2012
11
Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond. (21796106)
2012
12
Insular volume reduction in fragile X syndrome. (21291994)
2011
13
The GABA(A) receptor agonist THIP ameliorates specific behavioral deficits in the mouse model of fragile X syndrome. (22067669)
2011
14
Modulation of behavioral phenotypes by a muscarinic M1 antagonist in a mouse model of fragile X syndrome. (21487657)
2011
15
Rare intranuclear inclusions in the brains of 3 older adult males with fragile x syndrome: implications for the spectrum of fragile x-associated disorders. (21572337)
2011
16
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening. (20168238)
2010
17
Maternal responsivity predicts language development in young children with fragile X syndrome. (20025359)
2010
18
Dendritic spine instability and insensitivity to modulation by sensory experience in a mouse model of fragile X syndrome. (20861447)
2010
19
The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome. (20843831)
2010
20
Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome. (20838083)
2010
21
Valproic acid and ADHD symptoms in fragile X syndrome: more evidence is needed. (20734428)
2010
22
Region-specific alterations in brain development in one- to three-year-old boys with fragile X syndrome. (20439717)
2010
23
Phonological accuracy and intelligibility in connected speech of boys with fragile X syndrome or Down syndrome. (19641081)
2009
24
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. (19367323)
2009
25
The role of ZF5 and CGGBP-20 transcription factors in expression regulation of human FMR1 gene responsible for X-fragile syndrome]. (20141036)
2009
26
Ras signaling mechanisms underlying impaired GluR1-dependent plasticity associated with fragile X syndrome. (18667617)
2008
27
Evidence of depressive symptoms in fragile-X syndrome premutated females. (18628675)
2008
28
Fragile X syndrome and epilepsy. (18839028)
2008
29
A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study. (18580686)
2008
30
The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome. (18608667)
2008
31
The Epigenetics of Fragile X Syndrome. (18371387)
2007
32
Multiple Gq-coupled receptors converge on a common protein synthesis-dependent long-term depression that is affected in fragile X syndrome mental retardation. (17959805)
2007
33
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). (16332642)
2006
34
Intrafamilial variability in fragile X-associated tremor/ataxia syndrome. (16124012)
2006
35
Video analysis of sensory-motor features in infants with fragile X syndrome at 9-12 months of age. (16172809)
2005
36
Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). (15876460)
2005
37
Premutation 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)
2002
38
FMR1 and the fragile X syndrome: human genome epidemiology review. (11545690)
2001
39
Sequence-specific RNA binding by a Nova KH domain: implications for paraneoplastic disease and the fragile X syndrome. (10676814)
2000
40
Cytogenetic diagnosis of fragile X syndrome: study of 305 suspected cases in Saudi Arabia. (17322660)
2000
41
Dissecting FMR1, the protein responsible for fragile X syndrome, in its structural and functional domains. (10496225)
1999
42
Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. (10331599)
1999
43
Spatial cognition in males with Fragile-X syndrome: evidence for a neuropsychological phenotype. (10369098)
1999
44
Fragile X syndrome with FMR1 and FMR2 deletion. (10424820)
1999
45
In vitro reactivation of the FMR1 gene involved in fragile X syndrome. (9384610)
1998
46
Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection. (8530006)
1995
47
Fragile X syndrome. (7992687)
1994
48
Association of fragile X syndrome with delayed replication of the FMR1 gene. (8324827)
1993
49
Molecular studies of the fragile X syndrome. (1605194)
1992
50
Fragile X syndrome: current knowledge]. (1364151)
1992

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
310.2FXR2, FMR1, CYFIP1, FXR1
410.2HTT, FMR1, MECP2, FXR2, FXR1

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