Details of Disease | DrugMAP

General Information of Disease (ID: DIS8EVE3)

Disease Name	FG syndrome 1
Synonyms	OKS; Keller syndrome; intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum; mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum; Opitz-Kaveggia syndrome; FG syndrome type 1; FG syndrome; MED12 FG syndrome; FG syndrome 1; Opitz-Kaveggia syndrome, X-linked recessive; FG Syndrome Type 1; FG syndrome caused by mutation in MED12
Definition	Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.
Disease Hierarchy	DISX8R9X: MED12-related intellectual disability syndrome DIS2MEFU: FG syndrome DIS8EVE3: FG syndrome 1
Disease Identifiers	MONDO ID MONDO_0010590 MESH ID C537923 UMLS CUI C5399762 MedGen ID 1768809 Orphanet ID 93932 SNOMED CT ID 1237179007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MED12	OTQZ4D2X	Definitive	X-linked recessive	[1]
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References

1	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.