MCID: FRG001
MIFTS: 66

Fragile X Syndrome malady

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

Aliases & Classifications for Fragile X Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 63Wikipedia, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 32MedlinePlus, 3CDC, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Fragile X Syndrome, Aliases & Descriptions:

Name: Fragile X Syndrome 45 9 10 63 41 21 11 43 47 32 3 60
Fraxa Syndrome 63 41 21 43 47 60
Martin-Bell Syndrome 9 63 41 21 47
Fraxe Syndrome 41 21 43 22 60
Fxs 63 41 21 47 3
Fragile Xe Syndrome 41 20 21 22
Marker X Syndrome 9 63 41 21
X-Linked Mental Retardation and Macroorchidism 63 41 21
Fraxe Intellectual Disability 41 21 47
Fra Syndrome 63 41 21
 
X-Linked Mental Retardation Associated with Fragile Site Fraxe 41 20
Intellectual Disability Associated with Fragile Site Fraxe 41 47
Fragile X Mental Retardation Syndrome 45 9
Frax Syndrome 41 47
Mental Retardation, X-Linked, Associated with Fragile Site Fraxe 21
X-Linked Mental Retardation and Macro-Orchidism 41
Mental Retardation, X-Linked, Fraxe Type 21
Fraxe Mental Retardation Syndrome 21
Fragile Site, Folic Acid Type 41
Fraxe Intellectual Deficit 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
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


External Ids:

OMIM45 300624
Disease Ontology9 DOID:14261
NCIt38 C84717
ICD9CM27 759.83
SNOMED-CT55 390007001, 613003
Orphanet47 908, 100973
MESH via Orphanet34 D005600
ICD10 via Orphanet26 Q99.2
UMLS via Orphanet61 C0016667, C0751156

Summaries for Fragile X Syndrome

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MedlinePlus:32 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 fraxa syndrome, is related to mental retardation, x-linked, fraxe type and fragile x tremor/ataxia syndrome, and has symptoms including macroorchidism, otitis media and joint hypermobility. 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 SIDS Susceptibility Pathways. The compounds hpaii and hydrofluoric acid have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and eye, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Disease Ontology:9 A neurodegenerative 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 a loss of fmr1 function.

NIH Rare Diseases:41 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. last updated: 1/29/2015

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.

OMIM:45 Fragile X mental retardation is characterized by moderate to severe mental retardation, macroorchidism, and distinct... (300624) more...

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

Related Diseases for Fragile X Syndrome

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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

Diseases related to Fragile X Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation, x-linked, fraxe type31.6AFF2, FRAXE
2fragile x tremor/ataxia syndrome31.2FMR1, FRAXA
3prader-willi syndrome30.7MECP2, CYFIP1, FMR1
4myotonic dystrophy30.6HTT, AFF2, FMR1
5angelman syndrome30.4CYFIP1, MECP2
6attention deficit-hyperactivity disorder30.4FMR1, SLC6A4, MECP2
7mental retardation29.7FXR1, FXR2, GRM5, FMR1, MECP2, FRAXE
8autism spectrum disorder10.8
9down syndrome10.7
10ataxia10.5
11neuronitis10.5
12tremor10.5
13premature ovarian failure10.5
14fragile x-associated tremor/ataxia syndrome10.5
15learning disability10.4
16mental retardation, fra12a type10.4
17premature ovarian failure 110.4FMR1, FRAXA
18turner syndrome10.3
19fragile x syndrome type 110.3
20fragile x syndrome type 210.3
21fragile x syndrome type 310.3
22blindness10.3
23cerebritis10.3
24anxiety disorder10.3
25spinocerebellar ataxia10.2HTT, FMR1
26colorectal cancer10.2
27bone fracture10.2
28movement disease10.2FMR1, HTT
29obsessive-compulsive disorder10.2SLC6A4
30multiple system atrophy10.2HTT, FMR1
31medulloblastoma10.1
32achondroplasia10.1
33cherubism10.1
34testicular microlithiasis10.1
35williams-beuren syndrome10.1
36werner syndrome10.1
37smith-magenis syndrome10.1
38velocardiofacial syndrome10.1
39obesity10.1
40friedreich ataxia10.1
41neurofibromatosis, type 110.1
42duchenne muscular dystrophy10.1
43hepatitis10.1
44status epilepticus10.1
45diabetes insipidus10.1
46premature menopause10.1
47neurofibromatosis10.1
48congenital nystagmus10.1
49mutism10.1
50infertility10.1

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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Symptoms by clinical synopsis from OMIM:

300624

Clinical features from OMIM:

300624

Symptoms:

 47 (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 45)
id Description Frequency HPO Source Accession
1 macroorchidism hallmark (90%) HP:0000053
2 otitis media hallmark (90%) HP:0000388
3 joint hypermobility hallmark (90%) HP:0001382
4 pes planus hallmark (90%) HP:0001763
5 neurological speech impairment hallmark (90%) HP:0002167
6 cognitive impairment hallmark (90%) HP:0100543
7 intellectual disability, moderate typical (50%) HP:0002342
8 sinusitis typical (50%) HP:0000246
9 macrocephaly typical (50%) HP:0000256
10 narrow face typical (50%) HP:0000275
11 long face typical (50%) HP:0000276
12 mandibular prognathia typical (50%) HP:0000303
13 abnormality of the pinna typical (50%) HP:0000377
14 muscular hypotonia typical (50%) HP:0001252
15 frontal bossing typical (50%) HP:0002007
16 attention deficit hyperactivity disorder typical (50%) HP:0007018
17 strabismus occasional (7.5%) HP:0000486
18 autism occasional (7.5%) HP:0000717
19 seizures occasional (7.5%) HP:0001250
20 abnormality of the mitral valve occasional (7.5%) HP:0001633
21 cerebral cortical atrophy occasional (7.5%) HP:0002120
22 dilatation of the ascending aorta occasional (7.5%) HP:0005111
23 self-injurious behavior occasional (7.5%) HP:0100716
24 macrocephaly HP:0000256
25 long face HP:0000276
26 coarse facial features HP:0000280
27 mandibular prognathia HP:0000303
28 macrotia HP:0000400
29 autism HP:0000717
30 hyperactivity HP:0000752
31 pectus excavatum HP:0000767
32 poor eye contact HP:0000817
33 seizures HP:0001250
34 joint laxity HP:0001388
35 x-linked dominant inheritance HP:0001423
36 mitral valve prolapse HP:0001634
37 pes planus HP:0001763
38 large forehead HP:0002003
39 macroorchidism, postpubertal HP:0002050
40 abnormal head movements HP:0002457
41 scoliosis HP:0002650
42 folate-dependent fragile site at xq28 HP:0003564
43 incomplete penetrance HP:0003829
44 periventricular gray matter heterotopia HP:0007165
45 congenital macroorchidism HP:0008640

Drugs & Therapeutics for Fragile X Syndrome

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Drug clinical trials:

Search ClinicalTrials for Fragile X Syndrome

Search NIH Clinical Center for Fragile X Syndrome

Genetic Tests for Fragile X Syndrome

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Genetic tests related to Fragile X Syndrome:

id Genetic test Affiliating Genes
1 X-Linked Mental Retardation Associated with Fragile Site Fraxe20 AFF2
2 Fragile X Syndrome20 22 FMR1
3 Fraxe22

Anatomical Context for Fragile X Syndrome

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MalaCards organs/tissues related to Fragile X Syndrome:

31
Testes, Brain, Eye, Amygdala, Cortex, Prefrontal cortex, Cerebellum, Heart, Skin, Temporal lobe, Thalamus

Animal Models for Fragile X Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fragile X Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.4MECP2, HTT, FMR1, GRM5, FXR1, FXR2
2MP:00053797.3MECP2, HTT, FMR1, NR1H4, GRM5, SLC6A4
3MP:00107717.3FXR2, AFF2, PAH, MECP2, HTT, FMR1
4MP:00036316.9CYFIP1, AFF2, PAH, MECP2, HTT, FMR1
5MP:00053786.9AFF2, PAH, MECP2, HTT, FMR1, NR1H4
6MP:00053866.4AFF2, PAH, MECP2, HTT, FMR1, NR1H4

Publications for Fragile X Syndrome

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Articles related to Fragile X Syndrome:

(show top 50)    (show all 714)
idTitleAuthorsYear
1
Language development in infants and toddlers with fragile x syndrome: change over time and the role of attention. (25715182)
2015
2
Modulation of the GABAergic pathway for the treatment of fragile X syndrome. (25258535)
2014
3
The contribution of inhibitory interneurons to circuit dysfunction in Fragile X Syndrome. (25202236)
2014
4
A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier. (23574351)
2013
5
Electrocortical changes associated with minocycline treatment in fragile X syndrome. (23981511)
2013
6
Physiological arousal in autism and fragile x syndrome: group comparisons and links with pragmatic language. (24432860)
2013
7
Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome. (24252602)
2013
8
A neurodevelopmental perspective on the acquisition of nonverbal cognitive skills in adolescents with fragile X syndrome. (24138215)
2013
9
Visual-spatial learning impairments are associated with hippocampal PSD-95 protein dysregulation in a mouse model of fragile X syndrome. (24323121)
2013
10
FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile. (24028275)
2013
11
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
12
Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS). (22958782)
2012
13
The role of glycogen synthase kinase-3 signaling in neurodevelopment and fragile X syndrome. (23071871)
2012
14
Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice. (23083736)
2012
15
Behavioral phenotype of fragile X syndrome in adolescence and adulthood. (22264109)
2012
16
Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology. (21211940)
2011
17
Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role? (21890420)
2011
18
Amygdala regulation of fear and emotionality in fragile X syndrome. (21893939)
2011
19
The psychiatric presentation of fragile x: evolution of the diagnosis and treatment of the psychiatric comorbidities of fragile X syndrome. (21893938)
2011
20
Targeted treatments for fragile X syndrome. (21484200)
2011
21
ACOG Committee Opinion No. 469: Carrier screening for fragile X syndrome. (20859177)
2010
22
Associating neural alterations and genotype in autism and fragile x syndrome: incorporating perceptual phenotypes in causal modeling. (20872060)
2010
23
Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures. (20687826)
2010
24
Using perceptual signatures to define and dissociate condition-specific neural etiology: autism and fragile X syndrome as model conditions. (20886276)
2010
25
Characterization and reversal of synaptic defects in the amygdala in a mouse model of fragile X syndrome. (20534533)
2010
26
Fragile X syndrome and associated disorders. (21189809)
2010
27
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
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
The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome. (19968048)
2009
34
Brief report: aggression and stereotypic behavior in males with fragile X syndrome--moderating secondary genes in a "single gene" disorder. (17340199)
2008
35
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. (18627038)
2008
36
Morphometric spatial patterns differentiating boys with fragile X syndrome, typically developing boys, and developmentally delayed boys aged 1 to 3 years. (18762595)
2008
37
The Epigenetics of Fragile X Syndrome. (18371387)
2007
38
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. (17166801)
2007
39
Mathematics learning disability in girls with Turner syndrome or fragile X syndrome. (16500739)
2006
40
The fragile X syndrome: exploring its molecular basis and seeking a treatment. (16626504)
2006
41
Cognitive aspects in girls with fragile X syndrome]. (15011155)
2004
42
A step-wise diagnosis of fragile X syndrome in Taiwan. (15335113)
2004
43
Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome. (12232854)
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
Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG. (10660959)
1999
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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UniProtKB/Swiss-Prot genetic disease variations for Fragile X Syndrome:

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

Clinvar genetic disease variations for Fragile X Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1AFF2NM_001169122.1: c.-460_-458GCC(6_25)NT expansionPathogenicGRCh37Chr X, 147582158: 147582202
2AFF2AFF2, 121- to 145-KB DELdeletionPathogenic
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 pathways (with members indented)ScoreTop Affiliating Genes
19.3SLC6A4, MECP2, PAH
28.8FMR1, FXR1, FXR2
38.3CYFIP1, FMR1, FXR1, FXR2
48.1FXR2, FXR1, FMR1, HTT, MECP2

Compounds for genes affiliated with Fragile X Syndrome

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Compounds related to Fragile X Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1hpaii4310.0MECP2, FMR1
2hydrofluoric acid439.9SLC6A4, GRM5
3amphetamine43 49 1211.6SLC6A4, GRM5
4folate439.6FMR1, MECP2, PAH, AFF2
5gaba439.3MECP2, FMR1, GRM5, SLC6A4
6oligonucleotide439.3FMR1, HTT, MECP2, PAH
7nmda43 2810.3HTT, GRM5, SLC6A4
8testosterone43 59 24 1212.0MECP2, HTT, FMR1, NR1H4, SLC6A4
9dopamine43 28 24 1212.0SLC6A4, GRM5, HTT, PAH
10arginine439.0SLC6A4, NR1H4, FMR1, MECP2, PAH
11norepinephrine43 24 1210.9PAH, GRM5, SLC6A4
12glutamate438.9MECP2, HTT, FMR1, GRM5, SLC6A4
13alanine438.9SLC6A4, HTT, MECP2, PAH

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
1dendritic shaftGO:00431989.8GRM5, FMR1
2mRNA cap binding complexGO:00058459.4FMR1, CYFIP1

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

idNameGO IDScoreTop Affiliating Genes
1visual learningGO:00085429.8HTT, MECP2
2social behaviorGO:00351769.1SLC6A4, HTT, MECP2

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

idNameGO IDScoreTop Affiliating Genes
1G-quadruplex RNA bindingGO:00021519.4FXR1, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet