KEGG   DISEASE: Mitchell 症候群
エントリ  
H02908                                                             
名称    
Mitchell 症候群
概要    
Mitchell syndrome (MITCH) is a rare and progressive autosomal dominant hereditary disorder, characterized by episodic demyelination, sensorimotor polyneuropathy and hearing loss. It has been reported that mutations in ACOX1 cause this syndrome. ACOX1 encodes the first and rate-limiting enzyme of the very-long-chain fatty acid (VLCFA) beta-oxidation pathway in peroxisomes and leads to H2O2 production.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  神経根, 神経叢または末梢神経の疾患
   8C4Y  その他の明示された神経根, 神経叢または末梢神経の疾患
    H02908  Mitchell 症候群
病因遺伝子 
ACOX1 [HSA:51] [KO:K00232]
リンク   
ICD-11: 8C4Y
OMIM: 618960
文献    
PMID:32169171
  著者
Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S, Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ
  タイトル
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
  雑誌
Neuron 106:589-606.e6 (2020)
DOI:10.1016/j.neuron.2020.02.021
文献    
PMID:37400800
  著者
Shen M, Chen Q, Gao Y, Yan H, Feng S, Ji X, Zhang X
  タイトル
A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review.
  雑誌
BMC Med Genomics 16:156 (2023)
DOI:10.1186/s12920-023-01577-w
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