KEGG   DISEASE: 下痢を伴う(伴わない)再発性呼吸器感染および発育不全
エントリ  
H02757                                                             
名称    
下痢を伴う(伴わない)再発性呼吸器感染および発育不全
概要    
Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD) is a rare genetic disorder characterized by recurrent lower respiratory infections, chronic diarrhoea, and failure to thrive. The phenotype clinically resembles cystic fibrosis [DS:H00218]. It has been reported that mutations in AGR2 cause this disease. AGR2 encodes a soluble protein-disulfide isomerase involved in ER protein folding and quality control.
カテゴリ  
呼吸器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 12 呼吸器系の疾患
  下気道の疾患
   CA2Y  その他の明示された下気道の疾患
    H02757  下痢を伴う(伴わない)再発性呼吸器感染および発育不全
病因遺伝子 
AGR2 [HSA:10551] [KO:K20356]
リンク   
ICD-11: CA2Y
OMIM: 620233
文献    
  著者
Bertoli-Avella A, Hotakainen R, Al Shehhi M, Urzi A, Pareira C, Marais A, Al Shidhani K, Aloraimi S, Morales-Torres G, Fisher S, Demuth L, Moteleb Selim LA, Al Menabawy N, Busehail M, AlShaikh M, Gilani N, Chalabi DN, Alharbi NS, Alfadhel M, Abdelrahman M, Venselaar H, Anjum N, Saeed A, Alghamdi MA, Aljaedi H, Arabi H, Karageorgou V, Khan S, Hajjari Z, Radefeldt M, Al-Ali R, Tripolszki K, Jamhawi A, Paknia O, Cozma C, Cheema H, Ameziane N, Al-Muhsen S, Bauer P
  タイトル
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
  雑誌
J Med Genet 59:993-1001 (2022)
DOI:10.1136/jmedgenet-2021-108150
文献    
  著者
Park SW, Zhen G, Verhaeghe C, Nakagami Y, Nguyenvu LT, Barczak AJ, Killeen N, Erle DJ
  タイトル
The protein disulfide isomerase AGR2 is essential for production of intestinal mucus.
  雑誌
Proc Natl Acad Sci U S A 106:6950-5 (2009)
DOI:10.1073/pnas.0808722106
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