KEGG   DISEASE: 尿路異常を伴う脳奇形
エントリ  
H02471                                                             
名称    
尿路異常を伴う脳奇形
  下位グループ
1p32-p31 欠失症候群
概要    
Brain malformations with urinary tract defects (BRMUTD) is a novel human syndrome associated with 1p32-p31 deletion involving the NFIA gene. NFIA encodes a member of the NFI family of transcription factors.
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
  遺伝子変異を除く染色体異常
   LD44  常染色体の欠失
    H02471  尿路異常を伴う脳奇形
病因遺伝子 
NFIA [HSA:4774] [KO:K09168]
リンク   
ICD-11: LD44.11
MeSH: C535594
OMIM: 613735
文献    
PMID:17530927
  著者
Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL
  タイトル
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
  雑誌
PLoS Genet 3:e80 (2007)
DOI:10.1371/journal.pgen.0030080
文献    
PMID:24657733
  著者
Ji J, Salamon N, Quintero-Rivera F
  タイトル
Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.
  雑誌
Eur J Med Genet 57:267-8 (2014)
DOI:10.1016/j.ejmg.2014.03.004
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