KEGG   DISEASE: Fragile X syndrome (FXS)Help
Entry
H00465                      Disease                                

Name
Fragile X syndrome (FXS)
Description
Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1). Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism.There are also several physical features commonly associated with FXS, including elongated faces, prominent ears, and macroorchidism. The most prevalent genetic aberration at the FMR1 locus arises from a noncoding CGG repeat in the 5'untranslated region.
Category
Chromosomal abnormality
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H00465  Fragile X Syndrome
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q90-Q99  Chromosomal abnormalities, not elsewhere classified
   Q99  Other chromosome abnormalities, not elsewhere classified
    H00465  Fragile X Syndrome
BRITE hierarchy
Pathway
RNA transport
Gene
FMR1 [HSA:2332] [KO:K15516]
Comment
See also H01731 Fragile X tremor/ataxia syndrome (FXTAS).
(FXR) Full mutation expansions (>200 CGG repeats)
(FXTAS) Smaller expansions in the premutation range (55-200 CGG repeats)
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Napoli I, Mercaldo V, Boyl PP, Eleuteri B, Zalfa F, De Rubeis S, Di Marino D, Mohr E, Massimi M, Falconi M, Witke W, Costa-Mattioli M, Sonenberg N, Achsel T, Bagni C
  Title
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP.
  Journal
Cell 134:1042-54 (2008)
DOI:10.1016/j.cell.2008.07.031
Reference
  Authors
Pfeiffer BE, Huber KM
  Title
The state of synapses in fragile X syndrome.
  Journal
Neuroscientist 15:549-67 (2009)
DOI:10.1177/1073858409333075
Reference
  Authors
Bhogal B, Jongens TA
  Title
Fragile X syndrome and model organisms: identifying potential routes of therapeutic intervention.
  Journal
Dis Model Mech 3:693-700 (2010)
DOI:10.1242/dmm.002006

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