congenital bilateral aplasia of vas deferens from CFTR mutation
Findings
No curated finding names congenital bilateral aplasia of vas deferens from CFTR mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.
Definition from the Mondo Disease Ontology (MONDO:0010178), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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
- AzoospermiaHPOHP:0000027
- Male infertilityHPOHP:0003251
Genes
1 gene
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.
- CFTRHGNC:1884
- Definitive · Natera · Autosomal recessive · 2023