FXS
MCID: FRG001
MIFTS: 73

Fragile X Syndrome (FXS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Endocrine diseases, Fetal diseases, Mental diseases categories

Summaries for Fragile X Syndrome

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44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 34MalaCards
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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: Fragile X Syndrome, also known as fraxa syndrome, is related to fragile x-associated tremor/ataxia syndrome and mental retardation, and has symptoms including aortic root dilatation/dilation/aneurysm, cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Fragile X Syndrome is FMR1 (fragile X mental retardation 1), and among its related pathways are GABA signaling in brain and Neuroscience. The compounds hpaii and lithium have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and eye, and related mouse phenotypes are craniofacial and endocrine/exocrine gland.

NIH Rare Diseases:44 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:66 Fragile X syndrome (FXS), also known as Martin?Bell syndrome, or Escalante\'s syndrome (more commonly... more...

Description from OMIM:48 300624

Aliases & Classifications for Fragile X Syndrome

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9Disease Ontology, 10diseasecard, 66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 35MedlinePlus, 63UMLS, 36MeSH, 28ICD9CM, 59SNOMED-CT, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
fragile x syndrome:
Inheritance: X-linked dominant; Prevalence: 1-5/10000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

fragile x syndrome 9 10 66 44 21 23 22 48 11 46 50 35 63
fraxa syndrome 66 44 22 46 50 63
martin-bell syndrome 9 66 44 22 50
marker x syndrome 9 66 44 22
fxs 66 44 22 50
x-linked mental retardation and macroorchidism 66 44 22
fra syndrome 66 44 22
x-linked mental retardation and macro-orchidism 44
fragile x mental retardation syndrome 9
frax syndrome 50


External Ids:

Disease Ontology9 DOID:14261
ICD9CM28 759.83
OMIM48 300624
NCIt41 C84717
SNOMED-CT59 390007001, 613003
MESH via Orphanet37 D005600
ICD10 via Orphanet27 Q99.2
SNOMED-CT via Orphanet60 254287005, 613003
UMLS via Orphanet64 C0016667, C0751156

Related Diseases for Fragile X Syndrome

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18GeneCards, 19GeneDecks
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Diseases in the 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 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1fragile x-associated tremor/ataxia syndrome30.9FRAXA, FMR1
2mental retardation30.8FMR1, GRM5, MECP2, FRAXA, PAH, AFF2
3fragile xe syndrome30.7FMR1, AFF2
4prader-willi syndrome30.5FMR1, MECP2
5intellectual disability30.5GRM5, AFF2, PAH, TSPAN7, MECP2, FMR1
6attention deficit hyperactivity disorder30.4SLC6A4, MECP2, FMR1
7myotonic dystrophy30.4FMR1, AFF2, HTT
8fragile x-associated primary ovarian insufficiency30.2FMR1, FRAXA
9down syndrome10.7
10autism spectrum disorder10.7
11ataxia10.5
12neuronitis10.5
13tremor10.5
14premature ovarian failure10.4
15learning disability10.4
16turner syndrome10.3
17williams syndrome10.3
18blindness10.3
19cerebritis10.2
20anxiety disorder10.2
21fragile x syndrome type 110.2
22fragile x syndrome type 210.2
23fragile x syndrome type 310.2
24bone fracture10.2
25neurofibromatosis10.1
26angelman syndrome10.1
27williams-beuren syndrome10.1
28cherubism10.1
29status epilepticus10.1
30diabetes insipidus10.1
31premature menopause10.1
32duchenne muscular dystrophy10.1
33alzheimer's disease10.1
34congenital nystagmus10.1
35mutism10.1
36infertility10.1
37velocardiofacial syndrome10.1
38huntington's disease10.1
39achondroplasia10.1
40friedreich ataxia10.1
41fetal alcohol syndrome10.1
42werner syndrome10.1
43nephrogenic diabetes insipidus10.1
44batten disease10.1
45dysostosis10.1
46hepatitis10.1
47medulloblastoma10.1
48muscular dystrophy10.1
49obesity10.1
50otitis media10.1

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



Diseases related to fragile x syndrome

Symptoms for Fragile X Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

300624

Clinical features from OMIM:

300624

Symptoms:

50 (show all 27)
  • 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
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • strabismus/squint
  • 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
  • chronic/relapsing otitis

Drugs & Therapeutics for Fragile X Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Fragile X Syndrome:

id Genetic test Affiliating Genes
1 Fragile X Syndrome21 23 FMR1

Anatomical Context for Fragile X Syndrome

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34MalaCards
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MalaCards organs/tissues related to Fragile X Syndrome:

34
Testes, Brain, Eye, Amygdala, Cortex, Prefrontal cortex, Thalamus, Temporal lobe, Cerebellum, Heart, Skin

Animal Models for Fragile X Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Fragile X Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.4HTT, MECP2, PAH, SLC6A4
2MP:00053797.5SLC6A4, GRM5, NR1H4, FMR1, HTT, MECP2
3MP:00053897.5HTT, MECP2, GRM5, PAH, FMR1
4MP:00036316.7GRM5, FMR1, HTT, MECP2, PAH, SLC6A4
5MP:00107716.6GRM5, NR1H4, FMR1, HTT, MECP2, SLC6A4
6MP:00053866.6AFF2, SLC6A4, GRM5, PAH, NR1H4, MECP2
7MP:00053786.5AFF2, PAH, MECP2, HTT, FMR1, NR1H4

Publications for Fragile X Syndrome

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53PubMed
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Articles related to Fragile X Syndrome:

(show top 50)    (show all 672)
idTitleAuthorsYear
1
A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier. (23574351)
2013
2
Electrocortical changes associated with minocycline treatment in fragile X syndrome. (23981511)
2013
3
Physiological arousal in autism and fragile x syndrome: group comparisons and links with pragmatic language. (24432860)
2013
4
Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome. (24252602)
2013
5
A neurodevelopmental perspective on the acquisition of nonverbal cognitive skills in adolescents with fragile X syndrome. (24138215)
2013
6
Visual-spatial learning impairments are associated with hippocampal PSD-95 protein dysregulation in a mouse model of fragile X syndrome. (24323121)
2013
7
FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. (24028275)
2013
8
Lithium ameliorates open-field and elevated plus maze behaviors, and brain phospho-glycogen synthase kinase 3-beta expression in fragile X syndrome model mice. (24141459)
2013
9
Males but not females show differences in calbindin immunoreactivity in the dorsal thalamus of the mouse model of fragile X syndrome. (22886886)
2013
10
Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS). (22958782)
2012
11
The role of glycogen synthase kinase-3 signaling in neurodevelopment and fragile X syndrome. (23071871)
2012
12
Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice. (23083736)
2012
13
Behavioral phenotype of fragile X syndrome in adolescence and adulthood. (22264109)
2012
14
Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology. (21211940)
2011
15
Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role? (21890420)
2011
16
Amygdala regulation of fear and emotionality in fragile X syndrome. (21893939)
2011
17
The psychiatric presentation of fragile x: evolution of the diagnosis and treatment of the psychiatric comorbidities of fragile X syndrome. (21893938)
2011
18
Targeted treatments for fragile X syndrome. (21484200)
2011
19
ACOG Committee Opinion No. 469: Carrier screening for fragile X syndrome. (20859177)
2010
20
Associating neural alterations and genotype in autism and fragile x syndrome: incorporating perceptual phenotypes in causal modeling. (20872060)
2010
21
Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures. (20687826)
2010
22
Using perceptual signatures to define and dissociate condition-specific neural etiology: autism and fragile X syndrome as model conditions. (20886276)
2010
23
Characterization and reversal of synaptic defects in the amygdala in a mouse model of fragile X syndrome. (20534533)
2010
24
Fragile X syndrome and associated disorders. (21189809)
2010
25
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
26
The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome. (19465392)
2009
27
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
28
Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats. (18957433)
2009
29
A review of mathematical learning disabilities in children with fragile X syndrome. (19213014)
2009
30
Molecular analysis of Fragile X syndrome. (19806593)
2009
31
The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome. (19968048)
2009
32
Brief report: aggression and stereotypic behavior in males with fragile X syndrome--moderating secondary genes in a "single gene" disorder. (17340199)
2008
33
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. (18627038)
2008
34
Morphometric spatial patterns differentiating boys with fragile X syndrome, typically developing boys, and developmentally delayed boys aged 1 to 3 years. (18762595)
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
Chronological age, but not FMRP levels, predicts neuropsychological performance in girls with fragile X syndrome. (16741913)
2006
40
Cognitive aspects in girls with fragile X syndrome]. (15011155)
2004
41
A step-wise diagnosis of fragile X syndrome in Taiwan. (15335113)
2004
42
Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome. (12232854)
2002
43
Pilot study for the neonatal screening of fragile X syndrome. (12116303)
2002
44
Diagnosis of fragile X syndrome]. (12447811)
2001
45
Sequence-specific RNA binding by a Nova KH domain: implications for paraneoplastic disease and the fragile X syndrome. (10676814)
2000
46
Fragile X syndrome is less common than previously estimated. (9032640)
1997
47
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. (7726157)
1995
48
Rett-like syndrome in fragile X syndrome. (8588847)
1995
49
Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. (8301764)
1994
50
Cytogenetic studies in fragile X syndrome]. (1437821)
1992

Variations for Fragile X Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Fragile X Syndrome:

65
id Symbol AA change Variation ID SNP ID
1FMR1p.Ile304AsnVAR_005234

Clinvar genetic disease variations for Fragile X Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1FMR1FMR1, SER27TERsingle nucleotide variantPathogenic
2FMR1NM_002024.5(FMR1): c.911T> A (p.Ile304Asn)single nucleotide variantPathogenicrs121434622GRCh37Chr X, 147018053: 147018053
3FMR1FMR1, 1-BP DEL, 373AdeletionPathogenic
4FMR1FMR1, IVS2AS1, G-T, -1 AND G-A, +1single nucleotide variantPathogenic
5FMR1FMR1, (CGG)n EXPANSIONNT expansionPathogenic

Expression for genes affiliated with Fragile X Syndrome

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2BioGPS, 16Gene 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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51PathCards, 13EMD Millipore, 55R&D Systems, 5Cell Signaling Technology, 39NCBI BioSystems Database
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Pathways related to Fragile X Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2GRM5, MECP2
29.2FMR1, HTT, MECP2
38.9SLC6A4, MECP2, PAH

Compounds for genes affiliated with Fragile X Syndrome

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46Novoseek, 52PharmGKB, 25HMDB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 3BitterDB
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Compounds related to Fragile X Syndrome according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1hpaii4610.0FMR1, MECP2
2lithium46 52 25 1212.8SLC6A4, FMR1
3cytosine46 2510.7FMR1, MECP2
4hydrofluoric acid469.5SLC6A4, GRM5
5melatonin46 30 62 25 1213.4HTT, PAH
6amine469.3PAH, SLC6A4
7amphetamine46 52 1211.3SLC6A4, GRM5
8kainate46 3010.1GRM5, HTT
9folate469.0FMR1, MECP2, PAH, AFF2
10lysine469.0PAH, HTT, SLC6A4
11oligonucleotide468.9PAH, MECP2, HTT, FMR1
12nmda46 309.8HTT, GRM5, SLC6A4
13haloperidol46 52 30 3 1212.8SLC6A4, GRM5
14gaba468.7SLC6A4, GRM5, FMR1, MECP2
15norepinephrine46 25 1210.7SLC6A4, GRM5, PAH
16testosterone46 62 25 1211.7MECP2, HTT, FMR1, NR1H4, SLC6A4
17alanine468.7SLC6A4, HTT, MECP2, PAH
18aspartate468.6SLC6A4, GRM5, PAH
19arginine468.6PAH, MECP2, FMR1, NR1H4, SLC6A4
20dopamine46 30 25 1211.3PAH, HTT, GRM5, SLC6A4
21glutamate468.2SLC6A4, GRM5, FMR1, HTT, MECP2

GO Terms for genes affiliated with Fragile X Syndrome

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17Gene Ontology
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Cellular components related to Fragile X Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dendritic spineGO:0431979.4GRM5, FMR1
2dendritic shaftGO:0431989.1GRM5, FMR1

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

idNameGO IDScoreTop Affiliating Genes
1visual learningGO:0085429.2HTT, MECP2
2locomotory behaviorGO:0076269.1GRM5, HTT
3social behaviorGO:0351768.9SLC6A4, HTT, MECP2

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

idNameGO IDScoreTop Affiliating Genes
1mRNA bindingGO:0037299.8FMR1, MECP2

Products for genes affiliated with Fragile X Syndrome

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  • Antibodies
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Sources for Fragile X Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet