KEGG   DISEASE: 後頭皮質異形成
エントリ  
H02501                                                             
名称    
後頭皮質異形成
概要    
Occipital cortical malformation (OCCM) is an autosomal recessive disorder caused by mutations in LAMC3. OCCM is characterized by thickening and smoothening of the occipital cortex along with polymicrogyria. LAMC3 gene encodes the gamma 3 chain of the laminin family proteins, which play a crucial part in cell differentiation, migration, and adhesion.
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
   神経系の構造的発達異常
    LA05  脳の構造的発達異常
     H02501  後頭皮質異形成
病因遺伝子 
LAMC3 [HSA:10319] [KO:K06247]
リンク   
ICD-11: LA05.Y
MeSH: D054220
OMIM: 614115
文献    
PMID:21572413
  著者
Barak T, Kwan KY, Louvi A, Demirbilek V, Saygi S, Tuysuz B, Choi M, Boyaci H, Doerschner K, Zhu Y, Kaymakcalan H, Yilmaz S, Bakircioglu M, Caglayan AO, Ozturk AK, Yasuno K, Brunken WJ, Atalar E, Yalcinkaya C, Dincer A, Bronen RA, Mane S, Ozcelik T, Lifton RP, Sestan N, Bilguvar K, Gunel M
  タイトル
Recessive LAMC3 mutations cause malformations of occipital cortical development.
  雑誌
Nat Genet 43:590-4 (2011)
DOI:10.1038/ng.836
文献    
PMID:29626609
  著者
Urgen BM, Topac Y, Ustun FS, Demirayak P, Oguz KK, Kansu T, Saygi S, Ozcelik T, Boyaci H, Doerschner K
  タイトル
Homozygous LAMC3 mutation links to structural and functional changes in visual attention networks.
  雑誌
Neuroimage 190:242-253 (2019)
DOI:10.1016/j.neuroimage.2018.03.077
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