KEGG   DISEASE: Athabascan brainstem dysgenesis syndrome
Entry
H00727                      Disease                                
Name
Athabascan brainstem dysgenesis syndrome;
Bosley-Salih-Alorainy syndrome
Description
Athabascan brainstem dysgenesis syndrome (ABDS) are HOXA1-related disorders marked by restricted ocular motility, sensorineural deafness, cerebrovascular malformations, and mental retardation. Cardiac malformations are also present in patients with these disorders.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00727  Athabascan brainstem dysgenesis syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H00727  Athabascan brainstem dysgenesis syndrome
Gene
HOXA1 [HSA:3198] [KO:K09301]
Other DBs
ICD-11: LD2H.Y
ICD-10: Q87.8
MeSH: C535397
OMIM: 601536
Reference
  Authors
Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP
  Title
The clinical spectrum of homozygous HOXA1 mutations.
  Journal
Am J Med Genet A 146A:1235-40 (2008)
DOI:10.1002/ajmg.a.32262
Reference
  Authors
Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC
  Title
Clinical characterization of the HOXA1 syndrome BSAS variant.
  Journal
Neurology 69:1245-53 (2007)
DOI:10.1212/01.wnl.0000276947.59704.cf
Reference
  Authors
Holve S, Friedman B, Hoyme HE, Tarby TJ, Johnstone SJ, Erickson RP, Clericuzio CL, Cunniff C
  Title
Athabascan brainstem dysgenesis syndrome.
  Journal
Am J Med Genet A 120A:169-73 (2003)
DOI:10.1002/ajmg.a.20087

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