KEGG   DISEASE: H01033Help
Entry
H01033                      Disease                                

Name
Congenital bilateral absence of vas deferens
Description
The condition of congenital bilateral absence of the vas deferens (CBAVD) causes obstructive azoospermia frequently seen in cystic fibrosis (CF) that is characterized by progressive lung disease, pancreatic dysfunction, elevated sweat electrolytes, and male infertility. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are linked to these diseases.
Category
Reproductive system disease
BRITE hierarchy
Pathway
ABC transporters
Gene
CFTR [HSA:1080] [KO:K05031]
Comment
Cystic fibrosis is described in H00218.
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:15379964 (description , gene)
  Authors
Cuppens H, Cassiman JJ
  Title
CFTR mutations and polymorphisms in male infertility.
  Journal
Int J Androl 27:251-6 (2004)
Reference
PMID:9147111 (description , gene)
  Authors
Lissens W, Mercier B, Tournaye H, Bonduelle M, Ferec C, Seneca S, Devroey P, Silber S, Van Steirteghem A, Liebaers I
  Title
Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities.
  Journal
Hum Reprod 11 Suppl 4:55-78; discussion 79-80 (1996)
Reference
PMID:2103471 (description , gene)
  Authors
Linthorst HJ, van Loon LC, Memelink J, Bol JF
  Title
Characterization of cDNA clones for a virus-inducible, glycine-rich protein from  petunia.
  Journal
Plant Mol Biol 15:521-3 (1990)

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