Vas Deferens, Congenital Bilateral Aplasia Of, X-linked; Cbavdx

Description

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 (OMIM ). The forms caused by mutations in the CFTR and ADGRG2 genes are clinically indistinguishable (summary by Patat et al., 2016).

Clinical Features

Phenotypes and symptoms related to Vas Deferens, Congenital Bilateral Aplasia Of, X-linked; Cbavdx

  • Azoospermia
  • Absent vas deferens
  • Obstructive azoospermia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Vas Deferens, Congenital Bilateral Aplasia Of, X-linked; Cbavdx Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ADGRG2, Adhesion G Protein-coupled Receptor G2.

By Center for Human Genetics, Inc (United States).

ADGRG2
Specificity
100 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SEMA3A, SEMA3E, FOXL2, BRDT, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAR, AURKC, TAC3, TACR3, TAF4B, TEX11, WNT4, WT1, WWOX , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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