KEGG   DISEASE: Morimoto-Ryu-Malicdan 神経筋症候群
エントリ  
H02840                                                             
名称    
Morimoto-Ryu-Malicdan 神経筋症候群
概要    
Morimoto-Ryu-Malicdan neuromuscular syndrome (MRMNS) is a novel multisystemic disorder characterized by incoordination and muscle weakness, hearing impairment, and decreased body weight. It has been reported that mutations in RFC4 cause this syndrome. RFC4 encodes a subunit of the replication factor C (RFC) complex required for DNA replication.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H02840  Morimoto-Ryu-Malicdan 神経筋症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 複製と修復
  nt06509  DNA 複製
   H02840  Morimoto-Ryu-Malicdan 神経筋症候群
パスウェイ 
hsa03030 DNA replication   
ネットワーク
nt06509 DNA replication
病因遺伝子 
RFC4 [HSA:5984] [KO:K10755]
リンク   
ICD-11: LD20.Y
OMIM: 621010
文献    
  著者
Morimoto M, Ryu E, Steger BJ, Dixit A, Saito Y, Yoo J, van der Ven AT, Hauser N, Steinbach PJ, Oura K, Huang AY, Kortum F, Ninomiya S, Rosenthal EA, Robinson HK, Guegan K, Denecke J, Subramony SH, Diamonstein CJ, Ping J, Fenner M, Balton EV, Strohbehn S, Allworth A, Bamshad MJ, Gandhi M, Dipple KM, Blue EE, Jarvik GP, Lau CC, Holm IA, Weisz-Hubshman M, Solomon BD, Nelson SF, Nishino I, Adams DR, Kang S, Gahl WA, Toro C, Myung K, Malicdan MCV
  タイトル
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
  雑誌
Am J Hum Genet 111:1970-1993 (2024)
DOI:10.1016/j.ajhg.2024.07.008
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