KEGG   DISEASE: 斜顔面裂
エントリ  
H02202                                                             
名称    
斜顔面裂
概要    
Oblique facial cleft is a rare and severe congenital facial malformation. It has shown that loss-of-function mutations in SPECC1L are pathogenic for this disease. SPECC1L encodes a cytoskeletal protein, and its deficiency results in defective cell adhesion and migration.
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
    LA51  顔面裂
     H02202  斜顔面裂
病因遺伝子 
SPECC1L [HSA:23384] [KO:K23028]
リンク   
ICD-11: LA51
MeSH: C537736
OMIM: 600251
文献    
PMID:21703590
  著者
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL
  タイトル
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
  雑誌
Am J Hum Genet 89:44-55 (2011)
DOI:10.1016/j.ajhg.2011.05.023
文献    
PMID:25357034
  著者
Gfrerer L, Shubinets V, Hoyos T, Kong Y, Nguyen C, Pietschmann P, Morton CC, Maas RL, Liao EC
  タイトル
Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.
  雑誌
Plast Reconstr Surg 134:748-59 (2014)
DOI:10.1097/PRS.0000000000000517
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