KEGG   DISEASE: FG syndrome
H00894                      Disease                                
FG syndrome;
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.
Congenital malformation
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00894  FG syndrome
hsa04010  MAPK signaling pathway
hsa04919  Thyroid hormone signaling pathway
hsa04510  Focal adhesion
(FGS1) MED12 [HSA:9968] [KO:K15162]
(FGS2) FLNA [HSA:2316] [KO:K04437]
(FGS4) CASK [HSA:8573] [KO:K06103]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C537923
OMIM: 305450 300321 300422
PMID:17334363 (MED12)
Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
Nat Genet 39:451-3 (2007)
PMID:17632775 (FLNA)
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 (CASK)
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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