KEGG   DISEASE: 白質ジストロフィーおよび小脳萎縮
エントリ  
H02983                                                             
名称    
白質ジストロフィーおよび小脳萎縮
概要    
Leukodystrophy and cerebellar atrophy (LDCA) is a rare neurodevelopmental disorder characterized by cerebellar ataxias, developmental delay, and intellectual disability. It has been reported that mutations in LSM7 cause this disease. LSM7 encodes a subunit of the LSM complex, involved in pre-RNA maturation and mRNA degradation.
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
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H02983  白質ジストロフィーおよび小脳萎縮
病因遺伝子 
LSM7 [HSA:51690] [KO:K12626]
リンク   
ICD-11: LD90.Y
OMIM: 621191
文献    
  著者
Crespin M, Siquier-Pernet K, Marzin P, Bole-Feysot C, Malan V, Nitschke P, Hully M, Roux CJ, Lemoine M, Rio M, Boddaert N, Courtin T, Cantagrel V
  タイトル
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy.
  雑誌
HGG Adv 6:100372 (2025)
DOI:10.1016/j.xhgg.2024.100372
文献    
  著者
Derksen A, Shih HY, Forget D, Darbelli L, Tran LT, Poitras C, Guerrero K, Tharun S, Alkuraya FS, Kurdi WI, Nguyen CE, Laberge AM, Si Y, Gauthier MS, Bonkowsky JL, Coulombe B, Bernard G
  タイトル
Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.
  雑誌
HGG Adv 2:100034 (2021)
DOI:10.1016/j.xhgg.2021.100034
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