KEGG   DISEASE: 多発性硬化症
エントリ  
H01490                                                             
名称    
多発性硬化症
概要    
Multiple Sclerosis (MS) is a chronic disease of the central nervous system (CNS) characterized by inflammation, demyelination and axonal loss. This disease typically strikes young adults, especially women. There are four types of MS according to their relapsing or progressive pattern that include relapsing-remitting (RRMS), secondary progressive (SPMS), primary progressive (PPMS), and progressive relapsing (PRMS). In most patients, the disease has a relapsing-remitting course during the first years. Within 10 years, approximately 50% of patients progress to SPMS. The aetiology of MS is not well understood, but it is likely multifactorial, combining both genetic and environmental factors. Recently, the literature on the risk factors for MS has grown substantially. They indicate that a combination of a genetic predisposition, exposure to Epstein-Barr virus, cigarette smoking, and reduced sunlight exposure/vitamin D levels is involved. Authorized first-line treatments are considered equally effective, and include interferon beta and glatiramer acetate. They are primarily directed against inflammation, and might fail to adequately control disease activity in some patients. In that case, it has been recommended to switch these patients early to a therapy of higher efficacy. Currently, 13 different drugs with ten different active components are licensed in the European Union (EU) and the United States (US) for the treatment of MS.
カテゴリ  
免疫系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  多発性硬化症またはその他の白質異常
   8A40  多発性硬化症
    H01490  多発性硬化症
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06516  TNF シグナリング
   H01490  多発性硬化症
 細胞プロセス
  nt06527  ネクロトーシス
   H01490  多発性硬化症
 免疫系
  nt06537  TCR/BCR シグナリング
   H01490  多発性硬化症
指定難病 [jp08407.html]
 H01490
パスウェイ 
hsa04658 Th1 and Th2 cell differentiation   
hsa04659 Th17 cell differentiation   
hsa04612 Antigen processing and presentation   
hsa04217 Necroptosis   
hsa04660 T cell receptor signaling pathway   
ネットワーク
nt06516 TNF signaling
nt06527 Necroptosis
nt06537 TCR/BCR signaling
病因遺伝子 
(MS) PDCD1 [HSA:5133] [KO:K06744]
(MS) HLA-DRB1 [HSA:3123] [KO:K06752]
(MS) HLA-DQB1 [HSA:3119] [KO:K06752]
(MS5) TNFRSF1A [HSA:7132] [KO:K03158]
病原体   
Human herpesvirus 4 (Epstein-Barr virus) [GN:T40079]
治療薬   
オファツムマブ [DR:D09314]
ナタリズマブ [DR:D06886]
フマル酸ジメチル [DR:D03846]
ダントロレンナトリウム水和物 [DR:D02274]
バクロフェン [DR:D00241]
チザニジン塩酸塩 [DR:D00776]
アフロクアロン [DR:D01638]
デキサメタゾン [DR:D00292]
デキサメタゾンリン酸エステルナトリウム [DR:D00975]
ベタメタゾンリン酸エステルナトリウム [DR:D00972]
トリアムシノロンアセトニド [DR:D00983]
ヒドロコルチゾン [DR:D00088]
ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
トリアムシノロン [DR:D00385]
ベタメタゾン [DR:D00244]
プレドニゾロン [DR:D00472]
プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
メチルプレドニゾロン [DR:D00407]
メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
メチルプレドニゾロン酢酸エステル [DR:D00979]
グラチラマー酢酸塩 [DR:D04318]
フィンゴリモド塩酸塩 [DR:D04187]
シポニモドフマル酸 [DR:D11072]
インターフェロンベータ-1a [DR:D04554]
インターフェロンベータ-1b [DR:D00746]
リンク   
ICD-11: 8A40
ICD-10: G35
MeSH: D009103
OMIM: 126200 614810
文献    
  著者
Milo R, Miller A
  タイトル
Revised diagnostic criteria of multiple sclerosis.
  雑誌
Autoimmun Rev 13:518-24 (2014)
DOI:10.1016/j.autrev.2014.01.012
文献    
  著者
McKay KA, Kwan V, Duggan T, Tremlett H
  タイトル
Risk factors associated with the onset of relapsing-remitting and primary progressive multiple sclerosis: a systematic review.
  雑誌
Biomed Res Int 2015:817238 (2015)
DOI:10.1155/2015/817238
文献    
  著者
Goris A, Pauwels I, Dubois B
  タイトル
Progress in multiple sclerosis genetics.
  雑誌
Curr Genomics 13:646-63 (2012)
DOI:10.2174/138920212803759695
文献    
PMID:15912506 (PDCD1)
  著者
Kroner A, Mehling M, Hemmer B, Rieckmann P, Toyka KV, Maurer M, Wiendl H
  タイトル
A PD-1 polymorphism is associated with disease progression in multiple sclerosis.
  雑誌
Ann Neurol 58:50-7 (2005)
DOI:10.1002/ana.20514
文献    
PMID:14669136 (HLA-DRB1 HLA-DQB1)
  著者
Oksenberg JR, Barcellos LF, Cree BA, Baranzini SE, Bugawan TL, Khan O, Lincoln RR, Swerdlin A, Mignot E, Lin L, Goodin D, Erlich HA, Schmidt S, Thomson G, Reich DE, Pericak-Vance MA, Haines JL, Hauser SL
  タイトル
Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans.
  雑誌
Am J Hum Genet 74:160-7 (2004)
DOI:10.1086/380997
文献    
PMID:22801493 (TNFRSF1A)
  著者
Gregory AP, Dendrou CA, Attfield KE, Haghikia A, Xifara DK, Butter F, Poschmann G, Kaur G, Lambert L, Leach OA, Promel S, Punwani D, Felce JH, Davis SJ, Gold R, Nielsen FC, Siegel RM, Mann M, Bell JI, McVean G, Fugger L
  タイトル
TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis.
  雑誌
Nature 488:508-511 (2012)
DOI:10.1038/nature11307
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