KEGG   DISEASE: SMMCI 症候群
エントリ  
H00652                                                             
名称    
SMMCI 症候群
概要    
Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly characterized by the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense mutations in the SHH, a key player in ventral axis patterning, are associated with the disorder.
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
  主に1つの体系に影響する構造的発達異常
   顔面, 口腔または歯の構造的発達異常
    LA30  歯及び歯周組織の構造的発達異常
     H00652  SMMCI 症候群
パスウェイ 
hsa04340  Hedgehog signaling pathway
hsa04360  Axon guidance
病因遺伝子 
SHH [HSA:6469] [KO:K11988]
リンク   
ICD-11: LA30.4
MeSH: C537342
OMIM: 147250
文献    
  著者
Garavelli L, Zanacca C, Caselli G, Banchini G, Dubourg C, David V, Odent S, Gurrieri F, Neri G
  タイトル
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.
  雑誌
Am J Med Genet A 127A:93-5 (2004)
DOI:10.1002/ajmg.a.20685
文献    
  著者
Bolan M, Derech CD, Ribeiro GL, Pereira ET, Almeida IC
  タイトル
Solitary median maxillary central incisor.
  雑誌
J Dent Child (Chic) 76:82-6 (2009)
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