KEGG DISEASE: Congenital bilateral absence of vas deferens

KEGG

DISEASE: Congenital bilateral absence of vas deferens

Entry

H01033                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the male genital system
    LB57  Agenesis of vas deferens
     H01033  Congenital bilateral absence of vas deferens

Pathway

ABC transporters

Gene

(CBAVD) CFTR [HSA:1080] [KO:K05031]
(CBAVDX) ADGRG2 [HSA:10149] [KO:K08451]

Comment

Cystic fibrosis is described in H00218.

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

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