KEGG   DISEASE: ACCES 症候群
エントリ  
H02758                                                             
名称    
ACCES 症候群
概要    
ACCES syndrome is associated with a variable phenotype that includes aplasia cutis congenita and ectrodactyly as specific features. It has been reported that mutations in UBA2 cause this syndrome. UBA2 plays a key role in the post-translational modification of protein (SUMOylation). SUMOylation does not only target proteins for degradation, but is also involved in cell cycle regulation, subcellular trafficking, signal transduction, stress responses, and chromatin structure dynamics.
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
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H02758  ACCES 症候群
病因遺伝子 
UBA2 [HSA:10054] [KO:K10685]
リンク   
ICD-11: LD27.Y
OMIM: 619959
文献    
PMID:32758660
  著者
Aerden M, Bauters M, Van Den Bogaert K, Vermeesch JR, Holvoet M, Plasschaert F, Devriendt K
  タイトル
Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.
  雑誌
Eur J Med Genet 63:104009 (2020)
DOI:10.1016/j.ejmg.2020.104009
文献    
PMID:28110515
  著者
Marble M, Guillen Sacoto MJ, Chikarmane R, Gargiulo D, Juusola J
  タイトル
Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the  SUMOylation pathway.
  雑誌
Am J Med Genet A 173:758-761 (2017)
DOI:10.1002/ajmg.a.38078
文献    
PMID:34040189
  著者
Schnur RE, Yousaf S, Liu J, Chung WK, Rhodes L, Marble M, Zambrano RM, Sobreira N, Jayakar P, Pierpont ME, Schultz MJ, Pichurin PN, Olson RJ, Graham GE, Osmond M, Contreras-Garcia GA, Campo-Neira KA, Penaloza-Mantilla CA, Flage M, Kuppa S, Navarro K, Sacoto MJG, Wentzensen IM, Scarano MI, Juusola J, Prada CE, Hufnagel RB
  タイトル
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
  雑誌
Genet Med 23:1624-1635 (2021)
DOI:10.1038/s41436-021-01182-1
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