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Vas deferens, congenital bilateral aplasia of, X-linked(CBAVDX)

MedGen UID:
934782
Concept ID:
C4310815
Disease or Syndrome
Synonyms: CBAVDX; Congenital bilateral absence of vas deferens, X-linked
 
Gene (location): ADGRG2 (Xp22.13)
 
Monarch Initiative: MONDO:0010511
OMIM®: 300985

Definition

Congenital bilateral absence of the vas deferens (CBAVD) 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 (see 277180), mutations are identified in the CFTR gene (602421). The forms caused by mutations in the CFTR and ADGRG2 genes are clinically indistinguishable (summary by Patat et al., 2016). [from OMIM]

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.

Recent clinical studies

Etiology

Wang H, An M, Liu Y, Hu K, Jin Y, Xu S, Chen B, Lu M
Andrology 2020 Sep;8(5):1064-1069. Epub 2020 Feb 25 doi: 10.1111/andr.12769. PMID: 32020786

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
Wang H, An M, Liu Y, Hu K, Jin Y, Xu S, Chen B, Lu M
Andrology 2020 Sep;8(5):1064-1069. Epub 2020 Feb 25 doi: 10.1111/andr.12769. PMID: 32020786

Clinical prediction guides

Wang H, An M, Liu Y, Hu K, Jin Y, Xu S, Chen B, Lu M
Andrology 2020 Sep;8(5):1064-1069. Epub 2020 Feb 25 doi: 10.1111/andr.12769. PMID: 32020786

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