| Entry |
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| Name |
Congenital bilateral absence of vas deferens
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| 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.
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| Category |
Reproductive system disease
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| Pathway |
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| Gene |
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| Comment |
Cystic fibrosis is described in H00218.
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| Other DBs |
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| Reference |
|
| Authors |
Cuppens H, Cassiman JJ |
| Title |
CFTR mutations and polymorphisms in male infertility. |
| Journal |
Int J Androl 27:251-6 (2004) |
| Reference |
|
| 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 |
|
| 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) |