KEGG DISEASE: FG syndrome

DISEASE: FG syndrome

Entry

H00894                      Disease

Name

FG syndrome;
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

Congenital malformation

Brite

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
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06546  IgSF CAM signaling
   H00894  FG syndrome

Pathway

hsa04010

MAPK signaling pathway

hsa04919

Thyroid hormone signaling pathway

hsa04510

Focal adhesion

Network

nt06546 IgSF CAM signaling

Gene

(FGS1) MED12 [HSA:9968] [KO:K15162]
(FGS2) FLNA [HSA:2316] [KO:K04437]
(FGS4) CASK [HSA:8573] [KO:K06103]

Other DBs

ICD-11:

LD2F.1Y

MeSH:

C537923

OMIM:

305450 300321 300422

Reference

PMID:17334363 (MED12)

Authors

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

Title

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Journal

Nat Genet 39:451-3 (2007)
DOI:10.1038/ng1992

Reference

PMID:17632775 (FLNA)

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)
DOI:10.1002/ajmg.a.31751

Reference

PMID:19200522 (CASK)

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)
DOI:10.1016/j.ajhg.2008.12.018

LinkDB

» Japanese version

DISEASE: MICPCH syndrome

Entry

H01921                      Disease

Name

MICPCH syndrome;
Syndromic X-linked mental retardation, Najm type

Supergrp

X-linked syndromic intellectual developmental disorder [DS:H00658]

Description

Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare X-linked mental retardation syndrome, generally seen in girls, characterized by severe neurodevelopmental delay, microcephaly, and pontine and cerebellar hypoplasia. MICPCH syndrome is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN.