KEGG   DISEASE: Long-Olsen-Distelmaier 症候群
エントリ  
H02697                                                             
名称    
Long-Olsen-Distelmaier 症候群
概要    
Long-Olsen-Distelmaier syndrome (LNGODS) is a syndromic fetal dilated cardiomyopathy associated with hepatopathy and brain abnormalities. It has been reported that gain-of-function mutations in RRAGC cause this disease. RRAGC encodes a Rag protein that is part of a unique family of small GTPases known to regulate mTORC1 signaling.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 11 循環器系の疾患
  心筋または心室の疾患
   BC43  心筋症
    H02697  Long-Olsen-Distelmaier 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06522  mTOR シグナリング
   H02697  Long-Olsen-Distelmaier 症候群
パスウェイ 
hsa04150 mTOR signaling pathway   
ネットワーク
nt06522 mTOR signaling
病因遺伝子 
RRAGC [HSA:64121] [KO:K16186]
リンク   
ICD-11: BC43.0
OMIM: 620609
文献    
PMID:27234373
  著者
Long PA, Zimmermann MT, Kim M, Evans JM, Xu X, Olson TM
  タイトル
De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy.
  雑誌
Hum Genet 135:909-917 (2016)
DOI:10.1007/s00439-016-1685-3
文献    
PMID:37057673
  著者
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horvath J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F
  タイトル
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
  雑誌
Genet Med 25:100838 (2023)
DOI:10.1016/j.gim.2023.100838
LinkDB    

» English version

DBGET integrated database retrieval system