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 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
PMID:18412118
  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
PMID:17875913
  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
PMID:12833395
  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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