KEGG   DISEASE: Atelis 症候群
エントリ  
H02639                                                             
名称    
Atelis 症候群
概要    
Atelis syndrome (ATELS) is a neurodevelopmental disease characterized by microcephaly, short stature, cardiac abnormalities and anemia. Patient-derived cells exhibit a unique chromosomal instability phenotype consisting of segmented and dicentric chromosomes with mosaic variegated hyperploidy. It has been reported that pathogenic variants in SLF2 and SMC5 cause this disease. They are components of the RAD18-SLF1/2-SMC5/6 genome stability pathway.
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
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02639  Atelis 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 複製と修復
  nt06506  二本鎖切断修復
   H02639  Atelis 症候群
ネットワーク
nt06506 Double-strand break repair
病因遺伝子 
(ATELS1) SLF2 [HSA:55719] [KO:K26127]
(ATELS2) SMC5 [HSA:23137] [KO:K22803]
リンク   
ICD-11: LD2F.Y
OMIM: 620184 620185
文献    
  著者
Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GA, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yuksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS
  タイトル
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
  雑誌
Nat Commun 13:6664 (2022)
DOI:10.1038/s41467-022-34349-8
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