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vas deferens, congenital bilateral aplasia of, X-linked - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vas deferens, congenital bilateral aplasia of, X-linked

MONDO:0010511

Also known as:CBAVDXcongenital bilateral absence of vas deferens, X-linkedvas deferens, congenital bilateral aplasia of, X-linked; CBAVDX

Overview

GeneticsX-linked · ADGRG2 (chr X)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include: Male infertility, Absent vas deferens, and Azoospermia.

Organ System	Phenotype Count	Example Features
Hormones	1	Male infertility

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ADGRG2 encodes adhesion G protein-coupled receptor G2 (1,017 aa). Adhesion G-protein coupled receptor (aGPCR) for steroid hormones, such as dehydroepiandrosterone (DHEA; also named 3beta-hydroxyandrost-5-en-17-one) and androstenedione. Highest expression in Nerve Tibial (6.1 TPM) and Fallopian Tube (5.7 TPM).

Vas deferens, congenital bilateral aplasia of, X-linked is associated with mutations in the ADGRG2 gene on chromosome X.

ADGRG2 is classified as a druggable target (Cell Surface, Druggable Genome, and G Protein Coupled Receptor categories) with score 0.0.

16 pathogenic variants reported in ADGRG2 in ClinVar.

Diagnosis

Genetic testing for ADGRG2 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for vas deferens, congenital bilateral aplasia of, X-linked.

4 publications have been identified in PubMed for vas deferens, congenital bilateral aplasia of, X-linked. Kisho has analyzed 2 by research type. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Sudhakar DVS (2025). [PMID: 40921938](https://pubmed.ncbi.nlm.nih.gov/40921938/). *Reproductive sciences (Thousand Oaks, Calif.)*. [Basic Science / Preclinical]
Hu H (2024). [PMID: 39402445](https://pubmed.ncbi.nlm.nih.gov/39402445/). *Basic Clin Androl*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 12:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300985

GARD

Genetic and Rare Diseases Info Center

GARD:15279

Questions for Your Care Team

→Should female family members consider carrier screening for ADGRG2?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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vas deferens, congenital bilateral aplasia of, X-linked

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team