KEGG   DISEASE: H00218Help
Entry
H00218                      Disease                                

Name
Cystic fibrosis (CF)
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 lung infections, respiratory distress, and pancreatic insufficiency.
Category
Inherited metabolic disease; Digestive disease; Respiratory disease
BRITE hierarchy
Pathway
ABC transporters
Gene
CFTR [HSA:1080] [KO:K05031]
Drug
Mucolytics
Antibiotics
Antifungals
Ursodeoxycholic acid [DR:D00734]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Riordan JR
  Title
CFTR function and prospects for therapy.
  Journal
Annu Rev Biochem 77:701-26 (2008)
Reference
  Authors
Cheung JC, Deber CM
  Title
Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.
  Journal
Biochemistry 47:1465-73 (2008)
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)
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)

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