KEGG   DISEASE: 家族性手根管症候群
エントリ  
H00798                                                             
名称    
家族性手根管症候群
概要    
Carpal tunnel syndrome is an entrapment neuropathy of the median nerve characterized by paresthesias in the district of the median nerve. Familial carpal tunnel syndrome is an extremely rare form with bilateral symptom that is frequently associated with inherited systemic disorders such as mucopolysaccharidosis, mucolipidosis, amyloidosis, collagen vascular disease or hereditary liability to pressure palsies. The cause of the disease is the compression of the median nerve by thickened transverse carpal ligament. Mutations in transthyretin, a gene that plays a role in deposition of amyloid, have been reported.
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
   単ニューロパチー
    8C10  上肢の単ニューロパチー
     H00798  家族性手根管症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H00798  家族性手根管症候群
パスウェイ 
hsa04820 Cytoskeleton in muscle cells   
ネットワーク
nt06539 Cytoskeleton in muscle cells
病因遺伝子 
(CTS1) TTR [HSA:7276] [KO:K20731]
(CTS2) COMP [HSA:1311] [KO:K04659]
リンク   
ICD-11: 8C10.0
MeSH: D002349
OMIM: 115430 619161
文献    
PMID:9052822
  著者
Vadasz AG, Chance PF, Epstein LG, Lou JS
  タイトル
Familial autosomal-dominant carpal tunnel syndrome presenting in a 5-year-old-case report and review of the literature.
  雑誌
文献    
PMID:9831348
  著者
Stoll C, Maitrot D
  タイトル
Autosomal dominant carpal tunnel syndrome.
  雑誌
Clin Genet 54:345-8 (1998)
DOI:10.1034/j.1399-0004.1998.5440414.x
文献    
  著者
Senel S, Ceylaner G, Yuksel D, Erkek N, Karacan C
  タイトル
Familial primary carpal tunnel syndrome with possible skipped generation.
  雑誌
Eur J Pediatr 169:453-5 (2010)
DOI:10.1007/s00431-009-1055-4
文献    
PMID:8309582 (CTS1)
  著者
Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M
  タイトル
Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.
  雑誌
Neurology 44:315-8 (1994)
DOI:10.1212/WNL.44.2.315
文献    
PMID:32686688 (CTS2)
  著者
Li C, Wang N, Schaffer AA, Liu X, Zhao Z, Elliott G, Garrett L, Choi NT, Wang Y, Wang Y, Wang C, Wang J, Chan D, Su P, Cui S, Yang Y, Gao B
  タイトル
Mutations in COMP cause familial carpal tunnel syndrome.
  雑誌
Nat Commun 11:3642 (2020)
DOI:10.1038/s41467-020-17378-z
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