KEGG   DISEASE: 口腔咽頭粘膜の棘融解性水疱
エントリ  
H02648                                                             
名称    
口腔咽頭粘膜の棘融解性水疱
概要    
Acantholytic blistering of the oral and laryngeal mucosa (ABOLM) is a rare disease characterized by recurrent erosions in a tongue and laryngeal mucosa. Skin, conjunctival and genital mucosa, hair, and nails are unaffected. It has been reported that mutations in DSG3 cause this disease. DSG3 encodes a desmosomal cadherin that is expressed predominantly in the basal layer.
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
  口腔顔面複合体の疾患
   DA01  口腔粘膜の疾患
    H02648  口腔咽頭粘膜の棘融解性水疱
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06545  コーニファイドエンベロープ形成
   H02648  口腔咽頭粘膜の棘融解性水疱
パスウェイ 
hsa04382 Cornified envelope formation   
ネットワーク
nt06545 Cornified envelope formation
病因遺伝子 
DSG3 [HSA:1830] [KO:K07598]
リンク   
ICD-11: DA01.1Y
OMIM: 619226
文献    
  著者
Kim JH, Kim SE, Park HS, Lee SH, Lee SE, Kim SC
  タイトル
A Homozygous Nonsense Mutation in the DSG3 Gene Causes Acantholytic Blisters in the Oral and Laryngeal Mucosa.
  雑誌
J Invest Dermatol 139:1187-1190 (2019)
DOI:10.1016/j.jid.2018.09.038
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