ADGRG2 gene related symptoms and diseases

All the information presented here about the ADGRG2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE.

Top 5 symptoms associated to ADGRG2 gene



Symptoms // Phenotype % Cases
Azoospermia Very Common - Between 80% and 100% cases
Abnormal renal morphology Very Common - Between 80% and 100% cases
Absent vas deferens Very Common - Between 80% and 100% cases
X-linked inheritance Uncommon - Between 30% and 50% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with ADGRG2 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases

Heterogeneous Infertility Renal agenesis Male infertility Oligospermia Obstructive azoospermia
Mendelian

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Rare diseases associated to ADGRG2 gene

Here you will find a list of rare diseases related to the ADGRG2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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).

Most common symptoms of VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED; CBAVDX

  • X-linked inheritance
  • Azoospermia
  • Abnormal renal morphology
  • Absent vas deferens


More info about VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED; CBAVDX

SOURCES: MONDO OMIM UMLS

VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD

Alternate names

VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD Is also known as cavd;congenital bilateral agenesis of vas deferens; congenital bilateral aplasia of vas deferens

Description

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 DeferensAlso see CBAVDX (OMIM ), caused by mutation in the ADGRG2 gene (OMIM ).

Most common symptoms of VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD

  • Autosomal recessive inheritance
  • Heterogeneous
  • Infertility
  • Renal agenesis
  • Azoospermia


More info about VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD

SOURCES: OMIM NCIT UMLS SCTID ORPHANET MONDO

Potential gene panels for ADGRG2 gene

ADGRG2, Adhesion G Protein-coupled Receptor G2 Panel

By Center for Human Genetics, Inc in United States.

This panel specifically test the ADGRG2 gene.

More info about this panel

Male Infertility Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: HFE FOXL2 STAR WT1 ARL6 MKKS TTC8 TRIM32 CYP11A1 BBS7

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Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: HFE FOXL2 STAR WT1 HNF1B HSD17B4 PITX2 ARL6 MKKS TTC8

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Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: MECP2 STXBP1 TUSC3 ACSL4 SLC9A6 SLC6A8 ARX FOXG1 MEF2C SLC2A1

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