Vas Deferens, Congenital Bilateral Aplasia of, X-Linked (CBAVDX)

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OMIM 57 300985 MedGen 42 C4310815 CN238523 MeSH 44 D052801

SNOMED-CT via HPO 69 425558002 48188009 263934009 300506000 5286009 702610009 386674000 44001008 more UMLS 73 C1720894

OMIM : ⁵⁷ 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). (300985)

MalaCards based summary : Vas Deferens, Congenital Bilateral Aplasia of, X-Linked, also known as male urogenital diseases, is related to vas deferens, congenital bilateral aplasia of, and has symptoms including pathological conditions, signs and symptoms An important gene associated with Vas Deferens, Congenital Bilateral Aplasia of, X-Linked is ADGRG2 (Adhesion G Protein-Coupled Receptor G2). Affiliated tissues include prostate and bone, and related phenotypes are azoospermia and absent vas deferens

UniProtKB/Swiss-Prot : ⁷⁵ Congenital bilateral aplasia of the vas deferens, X-linked: A disease characterized by bilateral absence of vas deferens, obstructive azoospermia, and infertility.

Clinical features from OMIM:

300985

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