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Congenital bilateral aplasia of vas deferens from CFTR mutation(CBAVD)

MedGen UID:
98021
Concept ID:
C0403814
Congenital Abnormality
Synonym: CBAVD
SNOMED CT: Congenital bilateral aplasia of vas deferens (275416002)
 
Gene (location): CFTR (7q31.2)
 
Monarch Initiative: MONDO:0010178
OMIM®: 277180

Disease characteristics

Excerpted from the GeneReview: Cystic Fibrosis
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF. [from GeneReviews]
Authors:
Adrienne Savant  |  Benjamin Lyman  |  Christine Bojanowski, et. al.   view full author information

Additional descriptions

From OMIM
Congenital bilateral absence of the vas deferens is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD, mutations are identified in the CFTR gene (summary by Patat et al., 2016). Genetic Heterogeneity of Congenital Bilateral Aplasia of Vas Deferens Also see CBAVDX (300985), caused by mutation in the ADGRG2 gene (300572).  http://www.omim.org/entry/277180
From MedlinePlus Genetics
Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance.

This condition can occur alone or as a sign of cystic fibrosis, an inherited disease of the mucus glands. Cystic fibrosis causes progressive damage to the respiratory system and chronic digestive system problems. Many men with congenital bilateral absence of the vas deferens do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems.  https://medlineplus.gov/genetics/condition/congenital-bilateral-absence-of-the-vas-deferens

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Male infertility
MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Absent vas deferens
MedGen UID:
539922
Concept ID:
C0266444
Congenital Abnormality
Aplasia (congenital absence) of the vas deferens.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital bilateral aplasia of vas deferens from CFTR mutation
Follow this link to review classifications for Congenital bilateral aplasia of vas deferens from CFTR mutation in Orphanet.

Professional guidelines

PubMed

Chernykh V, Krasovsky S, Solovova O, Adyan T, Stepanova A, Marnat E, Shtaut M, Sedova A, Sorokina T, Beskorovainaya T, Kondratyeva E, Shchagina O, Polyakov A
Int J Mol Sci 2023 Nov 14;24(22) doi: 10.3390/ijms242216287. PMID: 38003474Free PMC Article
Cui X, Wu X, Li Q, Jing X
Mol Med Rep 2020 Nov;22(5):3587-3596. Epub 2020 Aug 24 doi: 10.3892/mmr.2020.11456. PMID: 33000223Free PMC Article
de Souza DAS, Faucz FR, Pereira-Ferrari L, Sotomaior VS, Raskin S
Andrology 2018 Jan;6(1):127-135. Epub 2017 Dec 7 doi: 10.1111/andr.12450. PMID: 29216686Free PMC Article

Recent clinical studies

Etiology

Chernykh V, Krasovsky S, Solovova O, Adyan T, Stepanova A, Marnat E, Shtaut M, Sedova A, Sorokina T, Beskorovainaya T, Kondratyeva E, Shchagina O, Polyakov A
Int J Mol Sci 2023 Nov 14;24(22) doi: 10.3390/ijms242216287. PMID: 38003474Free PMC Article
Luo S, Feng J, Zhang Y, Yang X, Ma G, Hu T, Xi Y, Tu X, Wang C, Zhang H, Zou Z, Zhang Y
Gene 2021 Jan 10;765:145045. Epub 2020 Aug 8 doi: 10.1016/j.gene.2020.145045. PMID: 32777524
Ma C, Wang R, Li T, Li H, Wang B
Mol Genet Genomic Med 2020 Nov;8(11):e1506. Epub 2020 Sep 19 doi: 10.1002/mgg3.1506. PMID: 32951344Free PMC Article
Yu J, Chen Z, Ni Y, Li Z
Hum Reprod 2012 Jan;27(1):25-35. Epub 2011 Nov 10 doi: 10.1093/humrep/der377. PMID: 22081250
Steiner B, Rosendahl J, Witt H, Teich N, Keim V, Schulz HU, Pfützer R, Löhr M, Gress TM, Nickel R, Landt O, Koudova M, Macek M Jr, Farre A, Casals T, Desax MC, Gallati S, Gomez-Lira M, Audrezet MP, Férec C, des Georges M, Claustres M, Truninger K
Hum Mutat 2011 Aug;32(8):912-20. Epub 2011 Jun 7 doi: 10.1002/humu.21511. PMID: 21520337

Diagnosis

Bieth E, Hamdi SM, Mieusset R
Hum Genet 2021 Jan;140(1):59-76. Epub 2020 Feb 5 doi: 10.1007/s00439-020-02122-w. PMID: 32025909Free PMC Article
Cui X, Wu X, Li Q, Jing X
Mol Med Rep 2020 Nov;22(5):3587-3596. Epub 2020 Aug 24 doi: 10.3892/mmr.2020.11456. PMID: 33000223Free PMC Article
Ferlin A, Stuppia L
Expert Rev Mol Diagn 2020 Mar;20(3):265-267. Epub 2019 Dec 23 doi: 10.1080/14737159.2020.1707081. PMID: 31854215
Gallego Á, Rogel R, Pérez-Ardavín J, Lorenzo L, Lujan S, Oltra S, Molina I, Broseta E
Arch Esp Urol 2019 Dec;72(10):1038-1042. PMID: 31823853
Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His
J Med Genet 2013 Apr;50(4):220-7. Epub 2013 Feb 1 doi: 10.1136/jmedgenet-2012-101427. PMID: 23378603

Therapy

Brusq C, Mieusset R, Hamdi SM
Andrology 2022 Feb;10(2):262-269. Epub 2021 Sep 27 doi: 10.1111/andr.13106. PMID: 34510807
Yu J, Chen Z, Ni Y, Li Z
Hum Reprod 2012 Jan;27(1):25-35. Epub 2011 Nov 10 doi: 10.1093/humrep/der377. PMID: 22081250

Prognosis

Cheng H, Yang S, Meng Q, Zheng B, Gu Y, Wang L, Song T, Xu C, Wang G, Han M, Shen L, Ding J, Li H, Ouyang J
J Assist Reprod Genet 2022 Mar;39(3):719-728. Epub 2022 Feb 4 doi: 10.1007/s10815-022-02417-z. PMID: 35119551Free PMC Article
Tan MQ, Huang WJ, Lan FH, Xu YJ, Zheng MY, Tang Y
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Duz MB, Ozyavuz Cubuk P
J Hum Genet 2021 Mar;66(3):315-320. Epub 2020 Oct 22 doi: 10.1038/s10038-020-00859-w. PMID: 33093640
McBride JA, Kohn TP, Mazur DJ, Lipshultz LI, Coward RM
Asian J Androl 2021 Mar-Apr;23(2):140-145. doi: 10.4103/aja.aja_48_20. PMID: 32930103Free PMC Article
Gallego Á, Rogel R, Pérez-Ardavín J, Lorenzo L, Lujan S, Oltra S, Molina I, Broseta E
Arch Esp Urol 2019 Dec;72(10):1038-1042. PMID: 31823853

Clinical prediction guides

Tan MQ, Huang WJ, Lan FH, Xu YJ, Zheng MY, Tang Y
Biol Reprod 2022 Jan 13;106(1):108-117. doi: 10.1093/biolre/ioab194. PMID: 34673937
Gallego Á, Rogel R, Pérez-Ardavín J, Lorenzo L, Lujan S, Oltra S, Molina I, Broseta E
Arch Esp Urol 2019 Dec;72(10):1038-1042. PMID: 31823853
Gaikwad A, Khan S, Kadam S, Kadam K, Dighe V, Shah R, Kulkarni V, Kumaraswamy R, Gajbhiye R
Andrologia 2018 Mar;50(2) Epub 2017 Aug 3 doi: 10.1111/and.12858. PMID: 28776713
Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His
J Med Genet 2013 Apr;50(4):220-7. Epub 2013 Feb 1 doi: 10.1136/jmedgenet-2012-101427. PMID: 23378603
Yu J, Chen Z, Ni Y, Li Z
Hum Reprod 2012 Jan;27(1):25-35. Epub 2011 Nov 10 doi: 10.1093/humrep/der377. PMID: 22081250

Recent systematic reviews

Yu J, Chen Z, Ni Y, Li Z
Hum Reprod 2012 Jan;27(1):25-35. Epub 2011 Nov 10 doi: 10.1093/humrep/der377. PMID: 22081250

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