KEGG   DISEASE: 小脳低形成、てんかん、および全般的発達遅滞
エントリ  
H02431                                                             
名称    
小脳低形成、てんかん、および全般的発達遅滞
概要    
Cerebellar hypoplasia, epilepsy, and global developmental delay (CHEGDD) is an early-onset autosomal recessive neurological disease. CHEGDD is characterized by severe global developmental delay, intellectual disability, language delay, cerebellar atrophy, and seizures. It has been reported that loss-of-function mutations in the OXR1 gene are associated with this disease.
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
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H02431  小脳低形成、てんかん、および全般的発達遅滞
病因遺伝子 
OXR1 [HSA:55074] [KO:K25437]
リンク   
ICD-11: LD20.0Y
OMIM: 213000
文献    
PMID:22028674
  著者
Oliver PL, Finelli MJ, Edwards B, Bitoun E, Butts DL, Becker EB, Cheeseman MT, Davies B, Davies KE
  タイトル
Oxr1 is essential for protection against oxidative stress-induced neurodegeneration.
  雑誌
PLoS Genet 7:e1002338 (2011)
DOI:10.1371/journal.pgen.1002338
文献    
PMID:31785787
  著者
Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM
  タイトル
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
  雑誌
Am J Hum Genet 105:1237-1253 (2019)
DOI:10.1016/j.ajhg.2019.11.002
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