| H01033 | |
| H number | H01033 |
| Name | Congenital bilateral absence of vas deferens |
| Description | The condition of congenital bilateral absence of the vas deferens (CBAVD) causes obstructive azoospermia frequently seen in cystic fibrosis (CF) that is characterized by progressive lung disease, pancreatic dysfunction, elevated sweat electrolytes, and male infertility. In 80% of patients with CBAVD, mutations are identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Recently, mutations in ADGRG2 gene have been identified. |
| Category | Congenital malformation |
| Network | - |
| Gene | (CBAVD) CFTR [HSA:1080] [KO:K05031] (CBAVDX) ADGRG2 [HSA:10149] [KO:K08451] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Cystic fibrosis is described in H00218. |
| Other DBs | ICD-11: LB57 ICD-10: Q55.4 MeSH: C535984 OMIM: 277180 300985 |
| Reference | PMID:9147111 AUTHORS Lissens W, Mercier B, Tournaye H, Bonduelle M, Ferec C, Seneca S, Devroey P, Silber S, Van Steirteghem A, Liebaers I TITLE Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities. JOURNAL Hum Reprod 11 Suppl 4:55-78; discussion 79-80 (1996) DOI:10.1093/humrep/11.suppl_4.55 PMID:15379964 AUTHORS Cuppens H, Cassiman JJ TITLE CFTR mutations and polymorphisms in male infertility. JOURNAL Int J Androl 27:251-6 (2004) DOI:10.1111/j.1365-2605.2004.00485.x PMID:8421472 (CFTR) AUTHORS Gervais R, Dumur V, Rigot JM, Lafitte JJ, Roussel P, Claustres M, Demaille J TITLE High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. JOURNAL N Engl J Med 328:446-7 (1993) DOI:10.1056/NEJM199302113280619 PMID:27476656 (ADGRG2) AUTHORS Patat O, Pagin A, Siegfried A, Mitchell V, Chassaing N, Faguer S, Monteil L, Gaston V, Bujan L, Courtade-Saidi M, Marcelli F, Lalau G, Rigot JM, Mieusset R, Bieth E TITLE Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. JOURNAL Am J Hum Genet 99:437-42 (2016) DOI:10.1016/j.ajhg.2016.06.012 |