KEGG   DISEASE: FG syndrome (FGS)Help
H00894                      Disease                                

FG syndrome (FGS);
Opitz-Kaveggia syndrome
FG syndrome (FGS), also known as Opitz-Kaveggia syndrome, is a rare X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder characterized by high clinical variability and genetic heterogeneity. The cardinal features of the syndrome are congenital hypotonia, delayed development of speech, relative macrocephaly (as compared to height and weight), anal anomalies or severe constipation, and dysmorphic facial features. Five loci have so far been linked to this phenotype on the X chromosome. A recurrent missense mutation in the MED12 gene has been identified as the cause for the subset of FGS cases. Filamin A gene (FLNA) and CASK gene mutations could be another causes of FG syndrome.
Skeletal dysplasia; Nervous system disease
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H00894  FG syndrome (FGS)
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q80-Q89  Other congenital malformations
   Q87  Other specified congenital malformation syndromes affecting multiple systems
    H00894  FG syndrome (FGS)
BRITE hierarchy
MAPK signaling pathway
Focal adhesion
Tight junction
(FGS1) MED12 [HSA:9968] [KO:K15162]
(FGS2) FLNA [HSA:2316] [KO:K04437]
(FGS4) CASK [HSA:8573] [KO:K06103]
Other DBs
PMID:17632775 (description, gene)
Unger S, Mainberger A, Spitz C, Bahr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ
Filamin A mutation is one cause of FG syndrome.
Am J Med Genet A 143A:1876-9 (2007)
PMID:19200522 (description, gene)
Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V
A missense mutation in CASK causes FG syndrome in an Italian family.
Am J Hum Genet 84:162-77 (2009)

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