CBAVDX
MCID: VSD001
MIFTS: 28

Vas Deferens, Congenital Bilateral Aplasia of, X-Linked (CBAVDX)

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

MalaCards integrated aliases for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked:

Name: Vas Deferens, Congenital Bilateral Aplasia of, X-Linked 57 29 6
Cbavdx 57 12 72
Congenital Bilateral Absence of Vas Deferens, X-Linked 57 29
X-Linked Congenital Bilateral Absence of Vas Deferens 12 15
Congenital Bilateral Aplasia of the Vas Deferens, X-Linked 72
Male Urogenital Diseases 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked


HPO:

31
vas deferens, congenital bilateral aplasia of, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111863
OMIM® 57 300985
OMIM Phenotypic Series 57 PS277180
MeSH 44 D052801
UMLS 70 C1720894

Summaries for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

OMIM® : 57 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 (602421). The forms caused by mutations in the CFTR and ADGRG2 genes are clinically indistinguishable (summary by Patat et al., 2016). (300985) (Updated 05-Apr-2021)

MalaCards based summary : Vas Deferens, Congenital Bilateral Aplasia of, X-Linked, also known as cbavdx, is related to vas deferens, congenital bilateral aplasia of and azoospermia, and has symptoms including pathological conditions, signs and symptoms An important gene associated with Vas Deferens, Congenital Bilateral Aplasia of, X-Linked is ADGRG2 (Adhesion G Protein-Coupled Receptor G2). The drugs Oxybutynin and Parasympatholytics have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are azoospermia and absent vas deferens

Disease Ontology : 12 A congenital bilateral absence of vas deferens that has material basis in mutation in ADGRG2 on chromosome Xp22.13.

UniProtKB/Swiss-Prot : 72 Congenital bilateral aplasia of the vas deferens, X-linked: A disease characterized by bilateral absence of vas deferens, obstructive azoospermia, and infertility.

Related Diseases for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

Diseases related to Vas Deferens, Congenital Bilateral Aplasia of, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vas deferens, congenital bilateral aplasia of 30.0 CFTR ADGRG2
2 azoospermia 30.0 CFTR ADGRG2
3 infertility 29.7 CFTR ADGRG2
4 renal hypodysplasia/aplasia 1 10.4
5 male infertility 9.6 CFTR ADGRG2

Graphical network of the top 20 diseases related to Vas Deferens, Congenital Bilateral Aplasia of, X-Linked:



Diseases related to Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

Symptoms & Phenotypes for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

Human phenotypes related to Vas Deferens, Congenital Bilateral Aplasia of, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 absent vas deferens 31 HP:0012873

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
absent vas deferens
low semen volume
reduced testicular volume (in some patients)
acid ph of semen (in some patients)
more

Clinical features from OMIM®:

300985 (Updated 05-Apr-2021)

UMLS symptoms related to Vas Deferens, Congenital Bilateral Aplasia of, X-Linked:


pathological conditions, signs and symptoms

Drugs & Therapeutics for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

Drugs for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxybutynin Approved, Investigational Phase 2 5633-20-5 4634
2 Parasympatholytics Phase 2
3 Neurotransmitter Agents Phase 2
4 Muscarinic Antagonists Phase 2
5 Cholinergic Agents Phase 2
6 Liver Extracts Phase 2
7 Cholinergic Antagonists Phase 2
8
Ceftriaxone Approved Phase 1 73384-59-5 5479530 5361919
9
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
10 Antibiotics, Antitubercular Phase 1
11 Anesthetics Phase 1
12 Anti-Bacterial Agents Phase 1
13
Desflurane Approved 57041-67-5 42113
14
Nimodipine Approved, Investigational 66085-59-4 4497

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Randomized Clinical Trial of Early Oxybutinin Treatment for Boys With Posterior Urethral Valves Not yet recruiting NCT04526353 Phase 2 Oxybutynin 1 mg/ml Syrup
2 Soractelite(Tm) Transperineal Laser Ablation for Benign Prostatic Hyperplasia With Bladder Outlet Obstruction Recruiting NCT04760483 Phase 1
3 Comparing Gas Consumption With Conventional Low Flow Ventilation and Gas Control Systems From Two Different Anesthesia Machines: Flow-i and Aisys Completed NCT02774031

Search NIH Clinical Center for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

Genetic Tests for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

Genetic tests related to Vas Deferens, Congenital Bilateral Aplasia of, X-Linked:

# Genetic test Affiliating Genes
1 Vas Deferens, Congenital Bilateral Aplasia of, X-Linked 29 ADGRG2
2 Congenital Bilateral Absence of Vas Deferens, X-Linked 29

Anatomical Context for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

MalaCards organs/tissues related to Vas Deferens, Congenital Bilateral Aplasia of, X-Linked:

40
Liver

Publications for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

Articles related to Vas Deferens, Congenital Bilateral Aplasia of, X-Linked:

# Title Authors PMID Year
1
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. 61 6 57
27476656 2016

Variations for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

ClinVar genetic disease variations for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADGRG2 NM_001079858.3(ADGRG2):c.2002_2006delinsAGA (p.Leu668fs) Indel Pathogenic 253014 rs879255539 GRCh37: X:19021188-19021192
GRCh38: X:19003070-19003074
2 ADGRG2 NM_001079858.3(ADGRG2):c.1545dup (p.Glu516Ter) Duplication Pathogenic 253015 rs774488954 GRCh37: X:19026118-19026119
GRCh38: X:19008000-19008001
3 ADGRG2 NM_001079858.3(ADGRG2):c.2845del (p.Cys949fs) Deletion Pathogenic 253013 rs879255538 GRCh37: X:19013038-19013038
GRCh38: X:18994920-18994920
4 ADGRG2 NM_001079858.3(ADGRG2):c.1618G>A (p.Val540Ile) SNV Uncertain significance 1028509 GRCh37: X:19025424-19025424
GRCh38: X:19007306-19007306

Expression for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

Search GEO for disease gene expression data for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked.

Pathways for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

GO Terms for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

Cellular components related to Vas Deferens, Congenital Bilateral Aplasia of, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.96 CFTR ADGRG2
2 apical plasma membrane GO:0016324 8.62 CFTR ADGRG2

Sources for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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