FXS
MCID: FRG001
MIFTS: 57

Fragile X Syndrome (FXS) malady

Neuronal, Eye, Endocrine, Fetal categories

Summaries for Fragile X Syndrome

Sources:
43NIH Rare Diseases, 34MedlinePlus, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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MedlinePlus:34 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 mental retardation and premature ovarian failure, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, frontal bossing/prominent forehead and cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy. 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, and related mouse phenotypes are endocrine/exocrine gland and integument.

NIH Rare Diseases:43 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

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.

Wikipedia:64 Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante\'s syndrome (more commonly used in South... more...

Description from OMIM:47 300624

Aliases & Classifications for Fragile X Syndrome

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 61UMLS, 35MeSH, 27ICD9CM, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 64 43 20 22 21 47 10 45 49 34 61
fraxa syndrome 64 43 21 45 49 61
martin-bell syndrome 8 64 43 21 49
marker x syndrome 8 64 43 21
fxs 64 43 21 49
fra syndrome 64 43 21
x-linked mental retardation and macroorchidism 64 21
x-linked mental retardation and macro-orchidism 43
fragile x mental retardation syndrome 8
frax syndrome 49


External Ids:

Disease Ontology8 DOID:14261
ICD9CM27 759.83
NCIt40 C84717
OMIM47 300624
SNOMED-CT57 390007001, 613003
MESH via Orphanet36 D005600
ICD10 via Orphanet26 Q99.2
SNOMED-CT via Orphanet58 254287005, 613003
UMLS via Orphanet62 C0016667, C0751156

Related Diseases for Fragile X Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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 87)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.9GRM5, AFF2, MECP2, FMR1, MAP1B, CYFIP1
2premature ovarian failure30.6FMR1
3fragile x-associated tremor/ataxia syndrome30.5FMR1, FRAXA
4fragile xe syndrome30.5FMR1, AFF2
5attention deficit hyperactivity disorder30.3SLC6A4
6down syndrome30.1FMR1, MECP2
7n syndrome11.1
8young syndrome10.7
9adult syndrome10.7
10autism spectrum disorder10.6
11char syndrome10.6
12micro syndrome10.5
13ataxia10.5
14tremor10.5
15williams syndrome10.4
16west syndrome10.3
17prader-willi syndrome10.3
18conn's syndrome10.3
19turner syndrome10.3
20anxiety disorder10.2
21faces syndrome10.2
22fragile x syndrome type 110.2
23fragile x syndrome type 210.2
24fragile x syndrome type 310.2
25star syndrome10.2
26bone fracture10.2
27prothrombin deficiency10.2
28neurofibromatosis10.1
29rett syndrome10.1
30status epilepticus10.1
31cherubism10.1
32williams-beuren syndrome10.1
33angelman syndrome10.1
34huntington's disease10.1
35achondroplasia10.1
36friedreich ataxia10.1
37werner syndrome10.1
38diabetes insipidus10.1
39premature menopause10.1
40cornelia de lange syndrome10.1
41duchenne muscular dystrophy10.1
42alzheimer's disease10.1
43congenital nystagmus10.1
44mutism10.1
45infertility10.1
46fetal alcohol syndrome10.1
47triple-a syndrome10.1
48arc syndrome10.1
49batten disease10.1
50nephrogenic diabetes insipidus10.1

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



Diseases related to fragile x syndrome

Clinical Features for Fragile X Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

300624

Clinical synopsis from OMIM:

300624

Symptoms:

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

Drugs & Therapeutics for Fragile X Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Fragile X Syndrome:

33
Brain

Animal Models for Fragile X Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Fragile X Syndrome

Sources:
51PubMed
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Articles related to Fragile X Syndrome:

idTitleAuthorsYear
1
Concurrence of the triple-X syndrome and expression of the fragile site Xq27.3. (3346020)
1988
2
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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Fragile X Syndrome:

63
id Symbol AA change Variation SNP ID
1FMR1p.Ile304AsnVAR_005234

Expression for genes affiliated with Fragile X Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 53R&D Systems, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 2BitterDB, 60Tocris Bioscience
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Compounds related to Fragile X Syndrome according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1hydrofluoric acid4510.6GRM5, SLC6A4
2folate4510.5PAH, AFF2, MECP2, FMR1
3lithium45 50 11 2413.5SLC6A4, MAP1B, FMR1
4gaba4510.4SLC6A4, MAP1B, GRM5, MECP2, FMR1
5haloperidol45 29 2 50 1114.4GRM5, RABEP2, SLC6A4
6nmda45 2911.4HTT, GRM5, MAP1B, SLC6A4
7hpaii4510.4MECP2, FMR1
8dopamine45 29 11 2413.4HTT, GRM5, RABEP2, SLC6A4, PAH
9testosterone45 60 11 2413.3SLC6A4, NR1H4, MECP2, HTT, FMR1
10oligonucleotide4510.2FMR1, HTT, MECP2, MAP1B, PAH
11glutamate4510.2SLC6A4, GRM5, MECP2, HTT, FMR1
12cocaine45 1111.2GRM5, RABEP2, SLC6A4
13arginine459.9FMR1, MECP2, NR1H4, SLC6A4, PAH

GO Terms for genes affiliated with Fragile X Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fragile X Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet