The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Absent vas deferens | Very frequent (present in 80%-99% of cases) |
| Male infertility | Very frequent (present in 80%-99% of cases) |
| Obstructive azoospermia | Very frequent (present in 80%-99% of cases) |
| Abnormal renal morphology | Occasional (present in 5%-29% of cases) |
| Oligospermia | Occasional (present in 5%-29% of cases) |
| - | |
| Azoospermia | - |
| Heterogeneous | - |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
The 11th Annual North American Genetic Analysis of ABC Transporters Workshop
Wednesday, September 24, 2014 -
Thursday, September 25, 2014
Location: NCI-Frederick,
Frederick,
MD
Description: This workshop features presentations from graduate students, post-docs., and senior investigators studying the role of ATP Cassette Binding Proteins in human disease. Phylogenetic studies, model systems, and bioinformatic techniques that shed light in this rapidly developing research area are presented. Because student presentations predominate, unpublished results often are first disclosed at these workshops.
Contact: Dr. Michael Dean,(301) 846-5931,deanm@mail.nih.gov
Co-funding Institute(s): National Cancer Institute, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
If a man is diagnosed with CBAVD and is looking to father a child with his wife through in vitro fertilization, how important is it to find out if the CBAVD was caused by a mutation in the CFTR gene? How much of an increased risk is there to have a child with cystic fibrosis when CBAVD is caused by a CFTR mutation? See answer
Our 34-year-old son was diagnosed with congenital bilateral absence of the vas deferens (CBAVD) resulting from the CFTR mutation. We also have another 31-year-old son and are concerned that he might be affected as well. Is either myself or my husband a carrier? Should we seek medical advice regarding these possibilities? See answer
