Details of Disease

General Information of Disease (ID: DISFEFR1)

• Disease Name: Bosley-Salih-Alorainy syndrome
• Synonyms: BSAS
• Definition: Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.
• Disease Hierarchy:
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DISISIYH: Human HOXA1 syndromes
  DISFEFR1: Bosley-Salih-Alorainy syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0019075
  MESH ID: C535397
  UMLS CUI: C1832216
  MedGen ID: 321908
  Orphanet ID: 69737
  SNOMED CT ID: 720567008

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
HOXA1	OTMSOJ7D	Supportive	Autosomal recessive	[1]

References

• [1] Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology. 2007 Sep 18;69(12):1245-53. doi: 10.1212/01.wnl.0000276947.59704.cf.