Details of Disease

General Information of Disease (ID: DIS2MEFU)

• Disease Name: FG syndrome
• Synonyms: mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum; intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum; FGS; Opitz-Kaveggia syndrome; FGS1; Keller syndrome
• Definition: FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DIS2MEFU: FG syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0002010
  MESH ID: C537923
  UMLS CUI: C0220769
  OMIM ID: 305450
  MedGen ID: 113106
  SNOMED CT ID: 49984004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FLNA	TTSTRZY	Strong	Biomarker	[1]
HPD	TT8DSFC	Strong	Genetic Variation	[2]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MED12	OTQZ4D2X	Limited	Genetic Variation	[3]
CASK	OT8EF7ZF	Strong	Genetic Variation	[4]
IGBP1	OTTHH4YE	Strong	Genetic Variation	[5]
MID2	OTAAQNZA	Strong	Biomarker	[6]
OBP2A	OTBIJ5TI	Strong	Biomarker	[7]
RCOR1	OTREADPC	Strong	Biomarker	[8]

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] Variants of alpha 1-proteinase inhibitor in black and white South African patients with focal glomerulosclerosis and minimal change nephrotic syndrome.J Med Genet. 1998 Jan;35(1):6-9. doi: 10.1136/jmg.35.1.6.
• [3] Two male sibs with severe micrognathia and a missense variant in MED12.Eur J Med Genet. 2016 Aug;59(8):367-72. doi: 10.1016/j.ejmg.2016.06.001. Epub 2016 Jun 7.
• [4] CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.Epilepsia. 2012 Aug;53(8):1441-9. doi: 10.1111/j.1528-1167.2012.03548.x. Epub 2012 Jun 18.
• [5] Developmental expression of alpha4 protein phosphatase regulatory subunit in tissues affected by Opitz syndrome.Dev Dyn. 2002 Aug;224(4):461-4. doi: 10.1002/dvdy.10125.
• [6] An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.Am J Med Genet A. 2005 Dec 15;139(3):221-6. doi: 10.1002/ajmg.a.30991.
• [7] Eradication of osteosarcoma by fluorescence-guided surgery with tumor labeling by a killer-reporter adenovirus.J Orthop Res. 2016 May;34(5):836-44. doi: 10.1002/jor.23073. Epub 2015 Nov 3.
• [8] Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.Mol Cell. 2008 Aug 8;31(3):347-59. doi: 10.1016/j.molcel.2008.05.023.