KEGG   DISEASE: Bjornstad 症候群
エントリ  
H00820                                                             
名称    
Bjornstad 症候群
  上位グループ
ミトコンドリア病 [DS:H01427]
概要    
Bjornstad syndrome is an autosomal recessive combination of congenital sensorineural hearing loss and pili torti. It is caused by mutations in BCS1L encoding a protein that is necessary for the assembly of complex III in the mitochondria.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   EC21  毛髪または発毛の遺伝子異常
    H00820  Bjornstad 症候群
病因遺伝子 
BCS1L [HSA:617] [KO:K08900]
リンク   
ICD-11: EC21.1
MeSH: C537633
OMIM: 262000
文献    
PMID:10694305
  著者
Selvaag E
  タイトル
Pili torti and sensorineural hearing loss. A follow-up of Bjornstad's original patients and a review of the literature.
  雑誌
Eur J Dermatol 10:91-7 (2000)
文献    
PMID:11807445
  著者
Richards KA, Mancini AJ
  タイトル
Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome.
  雑誌
J Am Acad Dermatol 46:301-3 (2002)
DOI:10.1067/mjd.2002.107969
文献    
PMID:9545407
  著者
Lubianca Neto JF, Lu L, Eavey RD, Flores MA, Caldera RM, Sangwatanaroj S, Schott JJ, McDonough B, Santos JI, Seidman CE, Seidman JG
  タイトル
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.
  雑誌
Am J Hum Genet 62:1107-12 (1998)
DOI:10.1086/301837
文献    
PMID:17314340
  著者
Hinson JT, Fantin VR, Schonberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE
  タイトル
Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome.
  雑誌
N Engl J Med 356:809-19 (2007)
DOI:10.1056/NEJMoa055262
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