KEGG   DISEASE: Cystic fibrosis
Entry
H00218                      Disease                                

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 disease; Digestive disease; Respiratory disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of ion transport and metabolism
   H00218  Cystic fibrosis
Human diseases in ICD-11 classification [BR:br08403]
 12 Diseases of the respiratory system
  Certain lower respiratory tract diseases
   CA25  Cystic fibrosis
    H00218  Cystic fibrosis
Pathway
hsa02010  ABC transporters
Gene
CFTR [HSA:1080] [KO:K05031]
Env factor
Pseudomonas aeruginosa
Pathogen
Pandoraea fibrosis 6399 [GN:pfib]
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)
Pancrelipase [DR:D05349]
Elexacaftor, ivacaftor and tezacaftor [DR:D11700] (CFTR F508del mutation)
Other DBs
ICD-11: CA25
ICD-10: E84
MeSH: D003550
OMIM: 219700
Reference
  Authors
Riordan JR
  Title
CFTR function and prospects for therapy.
  Journal
Annu Rev Biochem 77:701-26 (2008)
DOI:10.1146/annurev.biochem.75.103004.142532
Reference
  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
Reference
  Authors
Amaral MD, Kunzelmann K
  Title
Molecular targeting of CFTR as a therapeutic approach to cystic fibrosis.
  Journal
Trends Pharmacol Sci 28:334-41 (2007)
DOI:10.1016/j.tips.2007.05.004
Reference
  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
Reference
  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
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