Details of Disease

General Information of Disease (ID: DIS5CQYZ)

• Disease Name: Baraitser-Winter syndrome 1
• Synonyms: pachygyria, mental retardation, epilepsy, and characteristic facies; chromosome 7P22 deletion syndrome; cerebrooculofacial lymphatic syndrome; iris coloboma with ptosis, hypertelorism, and mental retardation; BRWS1; intellectual disability with epilepsy and characteristic facies; mental retardation with epilepsy and characteristic facies; iris coloboma with ptosis, hypertelorism, and intellectual disability; pachygyria, intellectual disability, epilepsy, and characteristic facies; Baraitser-WINTER syndrome 1; Baraitser-Winter syndrome 1; ACTB-related BAFopathy; Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB; Fryns-Aftimos syndrome; Baraitser-Winter syndrome type 1; cerebrofrontofacial syndrome; ACTB Baraitser-Winter cerebrofrontofacial syndrome
• Definition: Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.
• Disease Hierarchy:
  DISN13U9: Baraitser-Winter cerebrofrontofacial syndrome
  DISQTWXD: BAFopathy
  DIS5CQYZ: Baraitser-Winter syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0009470
  MESH ID: C565462
  UMLS CUI: C1855722
  OMIM ID: 243310
  MedGen ID: 340943

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACTG1	TTGAZF9	Strong	GermlineCausalMutation	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTB	OT1MCP2F	Definitive	Autosomal dominant	[2]

References

• [1] De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091.
• [2] Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23.