KEGG   DISEASE: 振動性蕁麻疹
エントリ  
H01799                                                             
名称    
振動性蕁麻疹
概要    
Vibratory urticaria is a rare type of physical skin reactivity characterized by the occurrence of local erythematous, edematous, cutaneous and subcutaneous lesions that result from stimuli of a vibratory nature. A local stimulus of sufficient intensity will also result in generalized or facial erythema accompanied by a transient headache. The histamine release that is associated with urticarias has implicated aberrant degranulation of mast cells in their pathogenesis. A missense variant in ADGRE2 gene has been found in families with vibratory urticaria, implicating the encoded adhesion G-protein-coupled receptor (GPCR) as a mechanosensor in mast cells.
カテゴリ  
免疫系疾患; 皮膚疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  炎症性皮膚症
   蕁麻疹, 血管性浮腫及びその他の蕁麻疹様疾患
    EB01  刺激誘発型の蕁麻疹及び血管性浮腫
     H01799  振動性蕁麻疹
病因遺伝子 
ADGRE2 [HSA:30817] [KO:K08443]
リンク   
ICD-11: EB01.Y
MeSH: D000094482
OMIM: 125630
文献    
PMID:5050327
  著者
Patterson R, Mellies CJ, Blankenship ML, Pruzansky JJ
  タイトル
Vibratory angioedema: a hereditary type of physical hypersensitivity.
  雑誌
J Allergy Clin Immunol 50:174-82 (1972)
DOI:10.1016/0091-6749(72)90048-6
文献    
  著者
Boyden SE, Desai A, Cruse G, Young ML, Bolan HC, Scott LM, Eisch AR, Long RD, Lee CC, Satorius CL, Pakstis AJ, Olivera A, Mullikin JC, Chouery E, Megarbane A, Medlej-Hashim M, Kidd KK, Kastner DL, Metcalfe DD, Komarow HD
  タイトル
Vibratory Urticaria Associated with a Missense Variant in ADGRE2.
  雑誌
N Engl J Med 374:656-63 (2016)
DOI:10.1056/NEJMoa1500611
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