KEGG   DISEASE: H00465Help
H00465                      Disease                                

Fragile X Syndrome, including:
Fragile X Syndrome (FXS);
Fragile X tremor/ataxia syndrome (FXTAS)
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. Expansion of this region can give rise to FXS or fragile-X-associated tremor/ataxia syndrome (FXTAS).
Chromosomal abnormality
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
RNA transport
FMR1 [HSA:2332] [KO:K15516]
(FXR) Full mutation expansions (>200 CGG repeats)
(FXTAS) Smaller expansions in the premutation range (55-200 CGG repeats)
Other DBs
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
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP.
Cell 134:1042-54 (2008)
Pfeiffer BE, Huber KM
The state of synapses in fragile X syndrome.
Neuroscientist 15:549-67 (2009)
Bhogal B, Jongens TA
Fragile X syndrome and model organisms: identifying potential routes of therapeutic intervention.
Dis Model Mech 3:693-700 (2010)
Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
Neurology 70:1397-402 (2008)

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