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congenital bilateral absence of vas deferens

MONDO:0018801Mondo

Findings

No curated finding names congenital bilateral absence of vas deferens yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.

Definition from the Mondo Disease Ontology (MONDO:0018801), read 2026-09-29. CC BY 4.0.

Features

7 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Absent vas deferensHPOHP:0012873
- Very frequent (80% to 99% of cases)
Male infertilityHPOHP:0003251
- Very frequent (80% to 99% of cases)
Obstructive azoospermiaHPOHP:0011962
- Very frequent (80% to 99% of cases)
Seminal vesicle agenesisHPOHP:0430121
- Frequent (30% to 79% of cases)
Unilateral renal agenesisHPOHP:0000122
- Frequent (30% to 79% of cases)
Abnormal renal morphologyHPOHP:0012210
- Occasional (5% to 29% of cases)
OligozoospermiaHPOHP:0000798
- Occasional (5% to 29% of cases)

Genes

2 genes

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

ADGRG2HGNC:4516
- Supportive · Orphanet · Autosomal recessive · 2021
CFTRHGNC:1884
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: disorder of development or morphogenesis
hereditary disease
male reproductive system disorder
Narrower terms (3): congenital bilateral aplasia of vas deferens from CFTR mutation
vas deferens, congenital bilateral aplasia of, X-linked
vas deferens, congenital unilateral aplasia of

Other names

2 names

Resolves to: congenital bilateral absence of vas deferens

Also called: congenital bilateral agenesis of vas deferenscongenital bilateral aplasia of vas deferens