KEGG   DISEASE: Congenital bilateral absence of vas deferensHelp
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 [BR:br08402]
 Congenital malformations
  Congenital malformations of genital organs
   H01033  Congenital bilateral absence of vas deferens
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
BRITE hierarchy
Pathway
hsa02010  ABC transporters
Gene
CFTR [HSA:1080] [KO:K05031]
ADGRG2 [HSA:10149] [KO:K08451]
Comment
Cystic fibrosis is described in H00218.
Other DBs
ICD-11: LB57
ICD-10: Q55.4
MeSH: C535984
OMIM: 277180 300985
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: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
Reference
PMID:2103471
  Authors
Linthorst HJ, van Loon LC, Memelink J, Bol JF
  Title
Characterization of cDNA clones for a virus-inducible, glycine-rich protein from petunia.
  Journal
Plant Mol Biol 15:521-3 (1990)
DOI:10.1007/BF00019172
Reference
  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

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