Details of Disease

General Information of Disease (ID: DIS2I9RV)

• Disease Name: BNAR syndrome
• Synonyms: bifid NOSE with or without anorectal and renal anomalies; BNAR; bifid nose with or without anorectal and renal anomalies
• Definition: BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.
• Disease Hierarchy:
  DISOZ09B: Bifid nose
  DISUEW2W: Hereditary otorhinolaryngologic disease
  DIS6SVEE: Syndromic disease
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DIS2I9RV: BNAR syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0012165
  MESH ID: C567672
  UMLS CUI: C2750433
  OMIM ID: 608980
  MedGen ID: 413305
  Orphanet ID: 217266
  SNOMED CT ID: 717940006

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
FREM1	OTMHRV87	Strong	Autosomal recessive	[1]

References

• [1] FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet. 2009 Sep;85(3):414-8. doi: 10.1016/j.ajhg.2009.08.010.