Details of Disease

General Information of Disease (ID: DISBR29S)

Disease Name FG syndrome 4
Synonyms
FGS4; intellectual disability, X-linked, with or without Nystagmus; X-linked intellectual disability with or without nystagmus; mental retardation, X-linked, with or without Nystagmus; mental retardation, with or without nystagmus; FG syndrome type 4; FG syndrome caused by mutation in cask; FG syndrome 4; CASK FG syndrome; cask FG syndrome; FG syndrome caused by mutation in CASK
Definition Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.
Disease Hierarchy
DIS2MEFU: FG syndrome
DISBR29S: FG syndrome 4
Disease Identifiers
MONDO ID
MONDO_0010318
MESH ID
C537923
UMLS CUI
C1845546
OMIM ID
300422
MedGen ID
336965

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FLNA TTSTRZY Strong Biomarker [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MED12 OTQZ4D2X Strong Biomarker [2]
CASK OT8EF7ZF Definitive X-linked [3]
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References

1 Filamin A mutation is one cause of FG syndrome. Am J Med Genet A. 2007 Aug 15;143A(16):1876-9. doi: 10.1002/ajmg.a.31751.
2 A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007 Apr;39(4):451-3. doi: 10.1038/ng1992. Epub 2007 Mar 4.
3 CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. Epub 2009 Dec 23.