| H00218 | |
| H number | H00218 |
| Name | Cystic fibrosis |
| Description | Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder in Caucasians with an incidence of 1 in 1500 to 1 in 6500, whereas it is rare among Orientals (1:90000). The common clinical features are chronic pulmonary infection with Pseudomonas aeruginosa, respiratory distress, and pancreatic insufficiency. A part of patients with CF present with a gastrointestinal blockage known as meconium ileus. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | CFTR [HSA:1080] [KO:K05031] TGFB1 [HSA:7040] [KO:K13375] FCGR2A [HSA:2212] [KO:K06472] |
| Pathogen | Pandoraea fibrosis 6399 [GN:pfib] |
| Env factor | - |
| Carcinogen | - |
| Drug | Chloramphenicol sodium succinate [DR:D02185] Tobramycin [DR:D00063] Acetylcysteine [DR:D00221] Dornase alfa [DR:D03896] Ivacaftor [DR:D09916] (CFTR mutation) Lumacaftor and ivacaftor [DR:D10685] (CFTR F508del homozygous mutation) Tezacaftor and ivacaftor [DR:D11042] (at least one mutation in CFTR) Elexacaftor, ivacaftor and tezacaftor [DR:D11700] (CFTR F508del mutation) Pancrelipase [DR:D05349] |
| Comment | - |
| Other DBs | ICD-11: CA25 ICD-10: E84 MeSH: D003550 OMIM: 219700 |
| Reference | PMID:18193900 AUTHORS Cheung JC, Deber CM TITLE Misfolding of the cystic fibrosis transmembrane conductance regulator and disease. JOURNAL Biochemistry 47:1465-73 (2008) DOI:10.1021/bi702209s PMID:16554808 AUTHORS Gadsby DC, Vergani P, Csanady L TITLE The ABC protein turned chloride channel whose failure causes cystic fibrosis. JOURNAL Nature 440:477-83 (2006) DOI:10.1038/nature04712 PMID:11932230 AUTHORS Lyczak JB, Cannon CL, Pier GB TITLE Lung infections associated with cystic fibrosis. JOURNAL Clin Microbiol Rev 15:194-222 (2002) DOI:10.1128/CMR.15.2.194–222.2002 PMID:18424453 (CFTR TGFB1) AUTHORS Bremer LA, Blackman SM, Vanscoy LL, McDougal KE, Bowers A, Naughton KM, Cutler DJ, Cutting GR TITLE Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. JOURNAL Hum Mol Genet 17:2228-37 (2008) DOI:10.1093/hmg/ddn123 PMID:15367919 (FCGR2A) AUTHORS De Rose V, Arduino C, Cappello N, Piana R, Salmin P, Bardessono M, Goia M, Padoan R, Bignamini E, Costantini D, Pizzamiglio G, Bennato V, Colombo C, Giunta A, Piazza A TITLE Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis. JOURNAL Eur J Hum Genet 13:96-101 (2005) DOI:10.1038/sj.ejhg.5201285 |