KEGG   DISEASE: 言語障害および行動異常を伴う神経発達障害
エントリ  
H02887                                                             
名称    
言語障害および行動異常を伴う神経発達障害
  上位グループ
グルタミン酸作動性シナプスの異常を伴う神経発達障害 [DS:H02705]
概要    
Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) is characterized by intellectual disability and neurodevelopmental abnormalities, including autism spectrum disorder, Rett syndrome-like features, and seizures or developmental epileptic encephalopathy. Mutations in AMPA receptor GluA2 subunit have been reported to cause this 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
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H02887  言語障害および行動異常を伴う神経発達障害
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06544  神経刺激性リガンドのシグナリング
   H02887  言語障害および行動異常を伴う神経発達障害
パスウェイ 
hsa04724  Glutamatergic synapse
hsa04082  Neuroactive ligand signaling
ネットワーク
nt06544 Neuroactive ligand signaling
病因遺伝子 
GRIA2 [HSA:2891] [KO:K05198]
リンク   
ICD-11: LD90.Y
OMIM: 618917
文献    
  著者
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Mannikko R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Penas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H
  タイトル
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
  雑誌
Nat Commun 10:3094 (2019)
DOI:10.1038/s41467-019-10910-w
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