KEGG   DISEASE: H00894Help
Entry
H00894                      Disease                                

Name
FG syndrome (FGS);
Opitz-Kaveggia syndrome
Description
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.
Category
Skeletal dysplasia; Nervous system disease
BRITE hierarchy
Pathway
MAPK signaling pathway
Focal adhesion
Tight junction
Gene
(FGS1) MED12 [HSA:9968] [KO:K15162]
(FGS2) FLNA [HSA:2316] [KO:K04437]
(FGS4) CASK [HSA:8573] [KO:K06103]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:17632775 (description, gene)
  Authors
Unger S, Mainberger A, Spitz C, Bahr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ
  Title
Filamin A mutation is one cause of FG syndrome.
  Journal
Am J Med Genet A 143A:1876-9 (2007)
Reference
PMID:19200522 (description, gene)
  Authors
Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V
  Title
A missense mutation in CASK causes FG syndrome in an Italian family.
  Journal
Am J Hum Genet 84:162-77 (2009)

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