vas deferens, congenital bilateral aplasia of, X-linked

Summary

vas deferens, congenital bilateral aplasia of, X-linked (MONDO:0010511) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	vas deferens, congenital bilateral aplasia of, X-linked
Mondo ID	MONDO:0010511
OMIM	300985
DOID	DOID:0111863
UMLS	C4310815
MedGen	934782
GARD	0015279
Is cancer (heuristic)	no

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

Data availability: 7 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › male reproductive system disorder › congenital bilateral absence of vas deferens › vas deferens, congenital bilateral aplasia of, X-linked

Related subtypes (2): congenital bilateral aplasia of vas deferens from CFTR mutation, vas deferens, congenital unilateral aplasia of

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

7 retrieved; paginated sample, class counts are floors:

3 uncertain significance, 3 pathogenic, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
253013	NM_001079858.3(ADGRG2):c.2845del (p.Cys949fs)	ADGRG2	Pathogenic	criteria provided, single submitter
253014	NM_001079858.3(ADGRG2):c.2002_2006delinsAGA (p.Leu668fs)	ADGRG2	Pathogenic	criteria provided, single submitter
253015	NM_001079858.3(ADGRG2):c.1545dup (p.Glu516Ter)	ADGRG2	Pathogenic	criteria provided, single submitter
2582758	NM_001079858.3(ADGRG2):c.366del (p.Phe122fs)	ADGRG2	Likely pathogenic	no assertion criteria provided
1028509	NM_001079858.3(ADGRG2):c.1618G>A (p.Val540Ile)	ADGRG2	Uncertain significance	criteria provided, single submitter
2582762	NM_001079858.3(ADGRG2):c.2185A>G (p.Thr729Ala)	ADGRG2	Uncertain significance	no assertion criteria provided
3382191	NM_001079858.3(ADGRG2):c.1969C>T (p.Arg657Trp)	ADGRG2	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ADGRG2	Orphanet:48	Congenital bilateral absence of vas deferens

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ADGRG2	HGNC:4516	ENSG00000173698	Q8IZP9	Adhesion G-protein coupled receptor G2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ADGRG2	Adhesion G-protein coupled receptor G2	Adhesion G-protein coupled receptor (aGPCR) for steroid hormones, such as dehydroepiandrosterone (DHEA; also named 3beta-hydroxyandrost-5-en-17-one) and androstenedione.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
GPCR	1	23.9×	0.042

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ADGRG2	GPCR	yes		GPS, GPCR_2_secretin-like, GPCR_2-like_7TM

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
caput epididymis	1
corpus epididymis	1
parotid gland	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ADGRG2	182	broad	marker	corpus epididymis, caput epididymis, parotid gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ADGRG2	723

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ADGRG2	Q8IZP9	62.76

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
spermatid development	1	145.3×	0.018	ADGRG2
phospholipase C-activating G protein-coupled receptor signaling pathway	1	131.7×	0.018	ADGRG2
adenylate cyclase-activating G protein-coupled receptor signaling pathway	1	113.1×	0.018	ADGRG2
cell surface receptor signaling pathway	1	64.1×	0.023	ADGRG2
G protein-coupled receptor signaling pathway	1	36.2×	0.028	ADGRG2
spermatogenesis	1	35.2×	0.028	ADGRG2

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ADGRG2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
ADGRG2	2	Binding:2

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	ADGRG2
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
ADGRG2	2	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.