KEGG   DISEASE: 肥満・多食および発達遅滞
エントリ  
H03022                                                             
名称    
肥満・多食および発達遅滞
概要    
Obesity, hyperphagia, and developmental delay (OBHD) is a complex developmental syndrome characterized by moderate to severe intellectual disability, seizures, hyperphagia and early-onset obesity. It has been reported that de novo mutations in NTRK2 cause OBHD. NTRK2 encodes the TRKB receptor, a member of the neurotrophin receptor tyrosine kinase family.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 06 精神, 行動, 神経発達の障害
  神経発達症
   6A0Y  その他の明示された神経発達症
    H03022  肥満・多食および発達遅滞
病因遺伝子 
NTRK2 [HSA:4915] [KO:K04360]
リンク   
ICD-11: 6A0Y
OMIM: 613886
文献    
  著者
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Ounap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafreniere RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL
  タイトル
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
  雑誌
Am J Hum Genet 101:664-685 (2017)
DOI:10.1016/j.ajhg.2017.09.008
文献    
  著者
Yeo GS, Connie Hung CC, Rochford J, Keogh J, Gray J, Sivaramakrishnan S, O'Rahilly S, Farooqi IS
  タイトル
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.
  雑誌
Nat Neurosci 7:1187-9 (2004)
DOI:10.1038/nn1336
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