KEGG   DISEASE: Bart-Pumphrey 症候群
エントリ  
H00706                                                             
名称    
Bart-Pumphrey 症候群
概要    
Bart-Pumphrey syndrome is an autosomal dominant disorder characterized by congenital deafness and palmoplantar hyperkeratosis. Patients also display knuckle pads and leukonychia. GJB2, the gene encoding connexin-26, is mutated in the disease.
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
   LD2H  症候群性遺伝性難聴
    H00706  Bart-Pumphrey 症候群
病因遺伝子 
GJB2 [HSA:2706] [KO:K07621]
リンク   
ICD-11: LD2H.Y
MeSH: C537210
OMIM: 149200
文献    
PMID:8151643
  著者
Ramer JC, Vasily DB, Ladda RL
  タイトル
Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.
  雑誌
J Med Genet 31:68-71 (1994)
DOI:10.1136/jmg.31.1.68
文献    
  著者
Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE
  タイトル
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.
  雑誌
Am J Med Genet A 136:282-4 (2005)
DOI:10.1002/ajmg.a.30822
文献    
  著者
Richard G, Brown N, Ishida-Yamamoto A, Krol A
  タイトル
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
  雑誌
J Invest Dermatol 123:856-63 (2004)
DOI:10.1111/j.0022-202X.2004.23470.x
文献    
  著者
Lee JR, White TW
  タイトル
Connexin-26 mutations in deafness and skin disease.
  雑誌
Expert Rev Mol Med 11:e35 (2009)
DOI:10.1017/S1462399409001276
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