KEGG   DISEASE: 圧迫麻痺性遺伝性ニューロパチー (HNPP)
エントリ  
H01296                                                             
名称    
圧迫麻痺性遺伝性ニューロパチー (HNPP)
概要    
Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy. HNPP is caused by a peripheral myelin protein (PMP22) gene deletion. PMP22 is duplicated in Charcot-Marie-Tooth disease type 1A (CMT1A). The other identified underlying genetic defects in HNPP are point mutations in PMP22 that lead to premature or delayed translation.
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
   遺伝性ニューロパチー
    8C20  遺伝性運動及び感覚性ニューロパチー
     H01296  圧迫麻痺性遺伝性ニューロパチー (HNPP)
病因遺伝子 
PMP22 [HSA:5376] [KO:K19289]
コメント  
Charcot-Marie-Tooth disease is described in H00264. [DS:H00264]
リンク   
ICD-11: 8C20.Y
MeSH: C536965
OMIM: 162500
文献    
  著者
Nodera H, Nishimura M, Logigian EL, Herrmann DN, Kaji R
  タイトル
HNPP due to a novel missense mutation of the PMP22 gene.
  雑誌
Neurology 60:1863-4 (2003)
DOI:10.1212/01.WNL.0000066049.13848.F2
文献    
  著者
Kumar N, Muley S, Pakiam A, Parry GJ
  タイトル
Phenotypic Variability Leads to Under-recognition of HNPP.
  雑誌
J Clin Neuromuscul Dis 3:106-12 (2002)
DOI:10.1097/00131402-200203000-00002
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