KEGG   DISEASE: 先天性顔面神経麻痺
エントリ  
H02151                                                             
名称    
先天性顔面神経麻痺
概要    
Hereditary congenital facial paresis (HCFP) belongs to the congenital cranial dysinnervation disorders. HCFP is characterized by the dysfunction of the seventh cranial nerve and can be associated with hearing loss, strabismus, and orofacial anomalies. Genetic heterogeneity for this disorder has been suggested. The only known causative gene for HCFP is HOXB1.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  斜視または眼球運動障害
   9C82  外眼筋の疾患
    H02151  先天性顔面神経麻痺
パスウェイ 
hsa04550  Signaling pathways regulating pluripotency of stem cells
病因遺伝子 
(HCFP3) HOXB1 [HSA:3211] [KO:K09301]
リンク   
ICD-11: 9C82.2
MeSH: D005158
OMIM: 601471 614744
文献    
  著者
Michielse CB, Bhat M, Brady A, Jafrid H, van den Hurk JA, Raashid Y, Brunner HG, van Bokhoven H, Padberg GW
  タイトル
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.
  雑誌
Eur J Hum Genet 14:1306-12 (2006)
DOI:10.1038/sj.ejhg.5201706
文献    
  著者
Vogel M, Velleuer E, Schmidt-Jimenez LF, Mayatepek E, Borkhardt A, Alawi M, Kutsche K, Kortum F
  タイトル
Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.
  雑誌
Am J Med Genet A 170:1813-9 (2016)
DOI:10.1002/ajmg.a.37682
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