KEGG   DISEASE: Auroneurodental 症候群
エントリ  
H02813                                                             
名称    
Auroneurodental 症候群
概要    
Auroneurodental syndrome (ANDS) is a novel genetic disorder characterized by progressive high-frequency sensorineural hearing loss, craniofacial dysmorphisms, developmental delay and mild proximal and axial muscle weakness. It has been reported mutations in NAA80 cause this syndrome. NAA80 is the N-terminal acetyltransferase expressed in the animal kingdom. NAA80 was recently found to specifically N-terminally acetylate actin.
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
   LD2H  症候群性遺伝性難聴
    H02813  Auroneurodental 症候群
病因遺伝子 
NAA80 [HSA:24142] [KO:K27921]
リンク   
ICD-11: LD2H.Y
OMIM: 620830
文献    
  著者
Muffels IJJ, Wiame E, Fuchs SA, Massink MPG, Rehmann H, Musch JLI, Van Haaften G, Vertommen D, van Schaftingen E, van Hasselt PM
  タイトル
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.
  雑誌
Brain Commun 3:fcab256 (2021)
DOI:10.1093/braincomms/fcab256
文献    
  著者
Myklebust LM, Baumann M, Stove SI, Foyn H, Arnesen T, Haug BE
  タイトル
Optimized bisubstrate inhibitors for the actin N-terminal acetyltransferase NAA80.
  雑誌
Front Chem 11:1202501 (2023)
DOI:10.3389/fchem.2023.1202501
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