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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Congenital bilateral absence of the vas deferens


Other Names for this Disease

  • CAVD
  • CBAVD
  • Congenital bilateral aplasia of vas deferens
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Inheritance

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How is congenital bilateral absence of the vas deferens (CBAVD) inherited?

When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Parents of a person with CBAVD each carry one CFTR mutation, but are usually unaffected (carriers). Men with CBAVD who choose to father children through assisted reproduction have an increased risk of having a child with cystic fibrosis. If congenital absence of the vas deferens is not caused by mutations in CFTR, the risk of having children with cystic fibrosis is not increased.[1]

The risk to siblings of a person with CBAVD depends on the affected person's CFTR gene mutation(s) and cannot readily be predicted without this information. Genetic testing is most informative when the CBAVD-causing mutations have been identified in the affected individual. Men with CBAVD sometimes have only one identifiable CFTR mutation, complicating the testing and interpretation of results in their family members.[2] We recommend speaking with a genetics professional about risk to other family members as well as any appropriate genetic testing.
Last updated: 12/22/2011

References
  1. Congenital bilateral absence of the vas deferens. Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/congenital-bilateral-absence-of-the-vas-deferens. Accessed 12/22/2011.
  2. Moskowitz SM et al.. CFTR-Related Disorders. GeneReviews. February 2008; http://www.ncbi.nlm.nih.gov/books/NBK1250/#cf.Genetic_Counseling. Accessed 12/22/2011.


Other Names for this Disease
  • CAVD
  • CBAVD
  • Congenital bilateral aplasia of vas deferens
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.