Congenital bilateral absence of vas deferens

General Information (adopted from Orphanet):

Synonyms, Signs: CAVD
CBAVD
Congenital bilateral agenesis of vas deferens
Congenital bilateral aplasia of vas deferens
Number of Symptoms 4
OrphanetNr: 48
OMIM Id: 277180
ICD-10: Q55.4
UMLs: C0403814
MeSH: C535984
MedDRA: 10010670
Snomed: 275416002

Prevalence, inheritance and age of onset:

Prevalence: 50 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic urogenital tract malformation
 -Rare genetic disease
Nonsyndromic urogenital tract malformation of male
 -Rare developmental defect during embryogenesis
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
(HPO:0000027) Azoospermia 28 / 7739
2
(OMIM) Vas deferens aplasia 1 / 7739
3
(HPO:0001425) Heterogeneous 132 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Congenital bilateral aplasia of the vas deferens (CBAVD), which leads to male infertility, may occur in isolation or as a manifestation of cystic fibrosis. Kaplan et al. (1968) found that males with cystic fibrosis are infertile because of ...
Molecular genetics OMIM See 602421 (e.g., 602421.0060) for mutations of the CFTR gene responsible for isolated bilateral absence of the vas deferens.

Goshen et al. (1992) described the case of a 2.5-year-old boy who was found to have fibrous ...