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: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ADGRG2 gene

Symptoms // Phenotype % Cases
Obstructive azoospermia Very Common - Between 80% and 100% cases
Azoospermia Very Common - Between 80% and 100% cases
Absent vas deferens Very Common - Between 80% and 100% cases
Infertility Uncommon - Between 30% and 50% cases
Renal agenesis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ADGRG2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Male infertility
  • Oligospermia
  • Abnormal renal morphology
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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.


CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS


Alternate names

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

Description

Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.

Most common symptoms of CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS

  • Infertility
  • Renal agenesis
  • Azoospermia
  • Male infertility
  • Oligospermia


More info about CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS

SOURCES: ORPHANET OMIM

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

  • Azoospermia
  • Absent vas deferens
  • Obstructive azoospermia


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

SOURCES: OMIM


Potential gene panels for ADGRG2 gene

ADGRG2, Adhesion G Protein-coupled Receptor G2 Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the ADGRG2 gene.

More info about this panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

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

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

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

United States.

By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C

More info about this panel


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