KEGG   DISEASE: 非特異性多発性小腸潰瘍症
エントリ  
H01853                                                             
名称    
非特異性多発性小腸潰瘍症
概要    
Chronic nonspecific multiple ulcers of the small intestine (CNSU) are characterized by multiple thin ulcers and concentric stenosis. CNSU predominantly occurs in females and the symptoms, such as general fatigue, edema, and abdominal pain, appear during adolescence. The clinical course of the disease is chronic and intractable with reduced effects of immunosuppressive treatment. Recently, it has been indicated that loss-of-function mutations in the SLCO2A1 gene encoding a prostaglandin transporter cause CNSU.
カテゴリ  
消化器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 13 消化器系の疾患
  小腸の疾患
   DA94  非感染性腸炎または小腸の潰瘍
    H01853  非特異性多発性小腸潰瘍症
指定難病 [jp08407.html]
 H01853
病因遺伝子 
SLCO2A1 [HSA:6578] [KO:K14345]
コメント  
See also H00457 Primary hypertrophic osteoarthropathy
リンク   
ICD-11: DA94.01
文献    
  著者
Umeno J, Hisamatsu T, Esaki M, Hirano A, Kubokura N, Asano K, Kochi S, Yanai S, Fuyuno Y, Shimamura K, Hosoe N, Ogata H, Watanabe T, Aoyagi K, Ooi H, Watanabe K, Yasukawa S, Hirai F, Matsui T, Iida M, Yao T, Hibi T, Kosaki K, Kanai T, Kitazono T, Matsumoto T
  タイトル
A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter.
  雑誌
PLoS Genet 11:e1005581 (2015)
DOI:10.1371/journal.pgen.1005581
文献    
  著者
Matsumoto T, Kubokura N, Matsui T, Iida M, Yao T
  タイトル
Chronic nonspecific multiple ulcer of the small intestine segregates in offspring from consanguinity.
  雑誌
J Crohns Colitis 5:559-65 (2011)
DOI:10.1016/j.crohns.2011.05.008
LinkDB    

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