Details of Disease

General Information of Disease (ID: DISSL641)

Disease Name FG syndrome 2
Synonyms FGS2; FG syndrome 2; FG syndrome type 2; FLNA FG syndrome; FG syndrome caused by mutation in FLNA
Definition Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene.
Disease Hierarchy
DIS2MEFU: FG syndrome
DISSL641: FG syndrome 2
Disease Identifiers
MONDO ID
MONDO_0010297
UMLS CUI
C1845902
OMIM ID
300321
MedGen ID
337461

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FLNA TTSTRZY Strong Genetic Variation [1]
FLNA TTSTRZY Definitive X-linked recessive [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]
FLNA OTYZ9JXM Definitive X-linked recessive [1]
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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.