CBAVDX
MCID: VSD001
MIFTS: 24

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

Categories: Genetic 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 58 30 6
Male Urogenital Diseases 45 74
Cbavdx 58 76
Congenital Bilateral Aplasia of the Vas Deferens, X-Linked 76
Congenital Bilateral Absence of Vas Deferens, X-Linked 58

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
vas deferens, congenital bilateral aplasia of, x-linked:
Inheritance x-linked inheritance


Classifications:



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

OMIM : 58 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)

MalaCards based summary : Vas Deferens, Congenital Bilateral Aplasia of, X-Linked, also known as male urogenital diseases, is related to vas deferens, congenital bilateral aplasia of, 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 Tamsulosin and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include prostate, and related phenotypes are azoospermia and absent vas deferens

UniProtKB/Swiss-Prot : 76 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 9.5 ADGRG2 LOC101928415

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

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

33
# Description HPO Frequency HPO Source Accession
1 azoospermia 33 HP:0000027
2 absent vas deferens 33 HP:0012873

Symptoms via clinical synopsis from OMIM:

58
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

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 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tamsulosin Approved, Investigational Phase 2, Phase 3 106133-20-4 129211
2 Cholinergic Agents Phase 2, Phase 3
3 Muscarinic Antagonists Phase 2, Phase 3
4 Neurotransmitter Agents Phase 2, Phase 3
5 Cholinergic Antagonists Phase 2, Phase 3
6 Adrenergic alpha-Antagonists Phase 2, Phase 3
7 Adrenergic alpha-1 Receptor Antagonists Phase 2, Phase 3
8 Adrenergic Antagonists Phase 2, Phase 3
9 Adrenergic Agents Phase 2, Phase 3
10 Tolterodine tartrate Phase 2, Phase 3 124937-52-6
11 Lycopene Approved, Investigational Phase 2 502-65-8 53477748
12
Selenium Approved, Investigational, Vet_approved Phase 2 7782-49-2
13
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
14
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
15
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
16
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
17
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
18
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
19 Tocotrienol Investigational Phase 2 6829-55-6
20 Protective Agents Phase 2
21 Antioxidants Phase 2
22 Radiation-Protective Agents Phase 2
23 Anti-Inflammatory Agents Phase 2
24 Vitamins Phase 2
25 Calciferol Phase 2
26 Calcium, Dietary Phase 2
27 Tocopherols Phase 2
28 Nutrients Phase 2
29 Ergocalciferols Phase 2
30 Tea Phase 2
31 Vitamin D2 Phase 2
32 Micronutrients Phase 2
33 Tocotrienols Phase 2
34 Bone Density Conservation Agents Phase 2
35 Trace Elements Phase 2
36 Hormones Phase 2
37
Nimodipine Approved, Investigational Not Applicable 66085-59-4 4497
38
Desflurane Approved Not Applicable 57041-67-5 42113
39 Central Nervous System Depressants Not Applicable
40 Anesthetics Not Applicable
41 Phosphodiesterase Inhibitors
42 Phosphodiesterase 5 Inhibitors

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Combined Behavioral and Drug Treatment of Overactive Bladder in Men Completed NCT01175382 Phase 2, Phase 3 Tolterodine + tamsulosin
2 Efficacy,Safety and Quality of Life After TOOKAD® Soluble VTP for Localized Prostate Cancer Completed NCT01875393 Phase 3 TOOKAD® Soluble
3 Efficacy and Safety Study of TOOKAD® Soluble for Localised Prostate Cancer Compared to Active Surveillance. Completed NCT01310894 Phase 3 TOOKAD® Soluble
4 The Effects of Lycopene on High Risk Prostatic Tissue Completed NCT01443026 Phase 2 Lycopene 30mg;Placebo
5 Study of Antioxidants on Prostate Tumors in Men Undergoing Radical Prostatectomy for Prostate Cancer Completed NCT00844792 Phase 2 Placebo
6 Study of Antioxidants on MRI Detectable Early Stage Prostate Cancer Among Men on Active Surveillance Completed NCT00744549 Phase 2 Placebo
7 Study Using WST11 in Patients With Localized Prostate Cancer Completed NCT00975429 Phase 2 WST11;WST11
8 Safety and Tolerability Study Using WST11 In Patients With Localized Prostate Cancer Completed NCT00946881 Phase 1, Phase 2 WST 11 -mediated -VTP
9 Study of WST11 in Patients With Localized Prostate Cancer Completed NCT00707356 Phase 2 WST11
10 Bioengineered Penile Tissue Constructs for Irreversibly Damaged Penile Corpora Not yet recruiting NCT03463239 Phase 1
11 Safety and Feasibility Study of Autologous Engineered Urethral Constructs for the Treatment of Strictures Suspended NCT03258658 Phase 1
12 Comparison of Gas Consumption From Two Different Anesthesia Machines Completed NCT02774031 Not Applicable
13 Identification of Underlying Conditions in Men Prescribed a PDE5 Inhibitor Completed NCT01150903
14 Intraoperative Nerve Monitoring During Robotic-assisted Radical Prostatectomy Recruiting NCT03721029 Not Applicable
15 Prostate Artery Embolization (PAE) for Treatment of Benign Prostatic Hyperplasia Recruiting NCT02592473 Not Applicable

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

Cochrane evidence based reviews: male urogenital diseases

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 30 ADGRG2

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

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

42
Prostate

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

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

# Title Authors Year
1
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. ( 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 Variation Type Significance SNP ID Assembly Location
1 ADGRG2 NM_001079858.2(ADGRG2): c.2845delT (p.Cys949Alafs) deletion Pathogenic rs879255538 GRCh37 Chromosome X, 19013038: 19013038
2 ADGRG2 NM_001079858.2(ADGRG2): c.2845delT (p.Cys949Alafs) deletion Pathogenic rs879255538 GRCh38 Chromosome X, 18994920: 18994920
3 ADGRG2 NM_001079858.2(ADGRG2): c.2002_2006delCTGTGinsAGA (p.Leu668Argfs) indel Pathogenic rs879255539 GRCh37 Chromosome X, 19021188: 19021192
4 ADGRG2 NM_001079858.2(ADGRG2): c.2002_2006delCTGTGinsAGA (p.Leu668Argfs) indel Pathogenic rs879255539 GRCh38 Chromosome X, 19003070: 19003074
5 ADGRG2 NM_001079858.2(ADGRG2): c.1545dupT (p.Glu516Terfs) duplication Pathogenic rs774488954 GRCh37 Chromosome X, 19026119: 19026119
6 ADGRG2 NM_001079858.2(ADGRG2): c.1545dupT (p.Glu516Terfs) duplication Pathogenic rs774488954 GRCh38 Chromosome X, 19008001: 19008001

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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