KEGG   DISEASE: Beaulieu-Boycott-Innes 症候群
エントリ  
H02253                                                             
名称    
Beaulieu-Boycott-Innes 症候群
概要    
Beaulieu-Boycott-Innes syndrome (BBIS) is a rare autosomal recessive neurodevelopmental disorder with intellectual disability associated with mutations in THOC6. The clinical presentation includes moderate to severe intellectual disability, mild microcephaly, and non-life threatening congenital malformations including cardiac septal defects, structural renal anomalies, cryptorchidism in males, submucous cleft palate, and corpus callosum dysgenesis. THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02253  Beaulieu-Boycott-Innes 症候群
パスウェイ 
hsa03013  Nucleocytoplasmic transport
病因遺伝子 
THOC6 [HSA:79228] [KO:K13175]
リンク   
ICD-11: LD2F.1Y
OMIM: 613680
文献    
  著者
Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Riviere JB, Faivre L, Innes AM, Lebel RR, Boycott KM
  タイトル
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
  雑誌
Clin Genet 91:92-99 (2017)
DOI:10.1111/cge.12793
文献    
  著者
Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J, Majewski J, Bulman DE, Parboosingh JS, Boycott KM
  タイトル
Intellectual disability associated with a homozygous missense mutation in THOC6.
  雑誌
Orphanet J Rare Dis 8:62 (2013)
DOI:10.1186/1750-1172-8-62
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