KEGG DISEASE: Recurrent respiratory infections and failure to thrive with or without diarrhea

KEGG

DISEASE: Recurrent respiratory infections and failure to thrive with or without diarrhea

Entry

H02757                      Disease

Name

Recurrent respiratory infections and failure to thrive with or without diarrhea

Description

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.

Category

Respiratory system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
12 Diseases of the respiratory system
  Certain lower respiratory tract diseases
   CA2Y  Other specified lower respiratory tract disease
    H02757  Recurrent respiratory infections and failure to thrive with or without diarrhea

Gene

AGR2 [HSA:10551] [KO:K20356]

Other DBs

ICD-11:

OMIM:

Reference

Authors

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

Title

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.

Journal

J Med Genet 59:993-1001 (2022)
DOI:10.1136/jmedgenet-2021-108150

Reference

Authors

Park SW, Zhen G, Verhaeghe C, Nakagami Y, Nguyenvu LT, Barczak AJ, Killeen N, Erle DJ

Title

The protein disulfide isomerase AGR2 is essential for production of intestinal mucus.

Journal

Proc Natl Acad Sci U S A 106:6950-5 (2009)
DOI:10.1073/pnas.0808722106

LinkDB

» Japanese version

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