KEGG   DISEASE: 内耳形成不全、小耳症、および小歯症を伴う先天性難聴
エントリ  
H02286                                                             
名称    
内耳形成不全、小耳症、および小歯症を伴う先天性難聴;
LAMM を伴う難聴
概要    
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a new, rare, autosomal recessive deafness syndrome. This syndrome has been linked to mutations in the FGF3 gene. Fibroblast growth factor (FGF) signals are required for expression of otic placode genes and for otic placode induction and vesicle formation.
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
    H02286  内耳形成不全、小耳症、および小歯症を伴う先天性難聴
病因遺伝子 
FGF3 [HSA:2248] [KO:K04358]
リンク   
ICD-11: LD2H.Y
MeSH: C565195
OMIM: 610706
文献    
  著者
Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M
  タイトル
Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).
  雑誌
Eur J Hum Genet 17:14-21 (2009)
DOI:10.1038/ejhg.2008.141
文献    
  著者
Sensi A, Ceruti S, Trevisi P, Gualandi F, Busi M, Donati I, Neri M, Ferlini A, Martini A
  タイトル
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.
  雑誌
Am J Med Genet A 155A:1096-101 (2011)
DOI:10.1002/ajmg.a.33962
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