KEGG   DISEASE: PEBEL
エントリ  
H02262                                                             
名称    
PEBEL;
脳浮腫と白質脳症を伴う早期発症進行性脳症
概要    
Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive infancy-onset disease characterized by ataxia, cerebellar edema, spinal myelopathy, and skin lesions. It is triggered by febrile infections, leading to coma and finally to death within the first 3 years of life. NAXE mutations disrupt the cellular NAD(P)HX repair system and cause PEBEL1. Biallelic pathogenic variants in the NAD(P)HX dehydratase (NAXD) cause PEBEL2.
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
  神経系のその他の疾患
   8E47  脳症, 他に分類されないもの
    H02262  PEBEL
病因遺伝子 
(PABEL1) NAXE [HSA:128240] [KO:K17759]
(PABEL2) NAXD [HSA:55739] [KO:K17757]
リンク   
ICD-11: 8E47
OMIM: 617186 618321
文献    
  著者
Kremer LS, Danhauser K, Herebian D, Petkovic Ramadza D, Piekutowska-Abramczuk D, Seibt A, Muller-Felber W, Haack TB, Ploski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H
  タイトル
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
  雑誌
Am J Hum Genet 99:894-902 (2016)
DOI:10.1016/j.ajhg.2016.07.018
文献    
  著者
Spiegel R, Shaag A, Shalev S, Elpeleg O
  タイトル
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.
  雑誌
Neurogenetics 17:187-90 (2016)
DOI:10.1007/s10048-016-0483-3
文献    
  著者
Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H
  タイトル
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
  雑誌
Brain 142:50-58 (2019)
DOI:10.1093/brain/awy310
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