Details of Disease

General Information of Disease (ID: DIS2MEY5)

• Disease Name: Bowen-Conradi syndrome
• Synonyms: BWCNS; Bowen-Conradi Hutterite syndrome; Bowen Hutterite syndrome (formerly); Bowen Hutterite syndrome; Bowen-Conradi syndrome; Bowen Hutterite syndrome, formerly; Bowen Hutterite Syndrome; Bowen syndrome, Hutterite type
• Definition: Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.
• Disease Hierarchy:
  DISCPWH9: Autosomal recessive disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS2MEY5: Bowen-Conradi syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008879
  MESH ID: C537081
  UMLS CUI: C1859405
  OMIM ID: 211180
  MedGen ID: 349160
  Orphanet ID: 1270
  SNOMED CT ID: 711153001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EMG1	OTFDX7HY	Strong	Autosomal recessive	[1]

References

• [1] Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment. Hum Mol Genet. 2016 Dec 15;25(24):5353-5364. doi: 10.1093/hmg/ddw351.