KEGG   DISEASE: 多発性家族性毛包上皮腫
エントリ  
H00829                                                             
名称    
多発性家族性毛包上皮腫
概要    
Multiple familial trichoepithelioma (MFT) is a benign epidermal tumor characterized by grouped nodules and papules on the face. The lesions are derived from immature hair follicles. It is inherited in autosomal dominant fashion and is related to Brooke-Spiegler syndrome and Familial cylindromatosis.
カテゴリ  
新生物
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  良性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織を除く
   良性非間葉系腫瘍
    皮膚の良性腫瘍
     2F22  表皮付属器の良性腫瘍
      H00829  多発性家族性毛包上皮腫
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06527  ネクロトーシス
   H00829  多発性家族性毛包上皮腫
パスウェイ 
hsa04064  NF-kappa B signaling pathway
hsa04622  RIG-I-like receptor signaling pathway
hsa04217  Necroptosis
hsa04625  C-type lectin receptor signaling pathway
hsa04380  Osteoclast differentiation
ネットワーク
nt06527 Necroptosis
病因遺伝子 
CYLD [HSA:1540] [KO:K08601]
リンク   
ICD-11: 2F22
MeSH: C536552
OMIM: 601606
文献    
PMID:18355210
  著者
Oranje AP, Halley D, den Hollander JC, Teepe RG, van de Graaf R, van den Ouweland A, Wagner A
  タイトル
Multiple familial trichoepithelioma and familial cylindroma: one cause!
  雑誌
J Eur Acad Dermatol Venereol 22:1395-6 (2008)
DOI:10.1111/j.1468-3083.2008.02648.x
文献    
PMID:21389835 (CYLD)
  著者
Kazakov DV, Vanecek T, Zelger B, Carlson JA, Spagnolo DV, Schaller J, Nemcova J, Kacerovska D, Vazmitel M, Sangueza M, Emberger M, Belousova I, Fernandez-Figueraz MT, Kempf W, Meyer DR, Rutten A, Baltaci M, Michal M
  タイトル
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.
  雑誌
Am J Dermatopathol 33:251-65 (2011)
DOI:10.1097/DAD.0b013e3181f7d373
LinkDB    

» English version

DBGET integrated database retrieval system