CBAVDX
MCID: VSD001
MIFTS: 26

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 56 29 6
Congenital Bilateral Absence of Vas Deferens, X-Linked 56 29
Male Urogenital Diseases 43 71
Cbavdx 56 73
Congenital Bilateral Aplasia of the Vas Deferens, X-Linked 73

Characteristics:

OMIM:

56
Inheritance:
x-linked


HPO:

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


Classifications:



External Ids:

OMIM 56 300985
OMIM Phenotypic Series 56 PS277180
MeSH 43 D052801
UMLS 71 C1720894

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

OMIM : 56 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 congenital bilateral absence of vas deferens, x-linked, is related to male infertility and balanoposthitis, 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 Neurotransmitter 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 : 73 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 male infertility 9.8
2 balanoposthitis 9.8
3 urethritis 9.8
4 prostatitis 9.8
5 infertility 9.8

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:

56
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 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tamsulosin Approved, Investigational Phase 2, Phase 3 106133-20-4 129211
2 Neurotransmitter Agents Phase 2, Phase 3
3 Adrenergic Antagonists Phase 2, Phase 3
4 Muscarinic Antagonists Phase 2, Phase 3
5 Adrenergic alpha-Antagonists Phase 2, Phase 3
6 Tolterodine tartrate Phase 2, Phase 3 124937-52-6
7 Cholinergic Antagonists Phase 2, Phase 3
8 Cholinergic Agents Phase 2, Phase 3
9 Adrenergic Agents Phase 2, Phase 3
10
Selenium Approved, Investigational, Vet_approved Phase 2 7782-49-2
11
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
12 Lycopene Approved, Investigational Phase 2 502-65-8 53477748
13
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
14
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
15
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
16
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
17
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
18 Tocotrienol Investigational Phase 2 6829-55-6
19 Trace Elements Phase 2
20 Hormones Phase 2
21 Vitamins Phase 2
22 Protective Agents Phase 2
23 Micronutrients Phase 2
24 Nutrients Phase 2
25 Radiation-Protective Agents Phase 2
26 Anti-Inflammatory Agents Phase 2
27 Ergocalciferols Phase 2
28 Tocotrienols Phase 2
29 Tocopherols Phase 2
30 Tea Phase 2
31 Calciferol Phase 2
32 Calcium, Dietary Phase 2
33 Antioxidants Phase 2
34 Vitamin D2 Phase 2
35
Desflurane Approved 57041-67-5 42113
36
Nimodipine Approved, Investigational 66085-59-4 4497
37 Anesthetics
38 Central Nervous System Depressants

Interventional clinical trials:


# 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 The Impact of Antioxidants on MRI Markers of Cell Proliferation and Hypoxia Among Men on Active Surveillance With Early Stage Prostate Cancer Completed NCT00744549 Phase 2 Placebo
3 A Randomized, Double-Blind Study of Combination Vitamin E, Selenium and Lycopene vs. Placebo in Men Undergoing Radical Prostatectomy for Prostate Cancer Completed NCT00844792 Phase 2 Placebo
4 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

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 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
Prostate

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. 56 6
27476656 2016
2
[Mycoplasma genitalium and male urogenital diseases: An update]. 61
30173450 2018
3
Effects of a dietary supplement on chronic pelvic pain syndrome (Category IIIA), leucocytospermia and semen parameters. 61
22053857 2012

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 GRCh37 Pos GRCh38 Pos
1 ADGRG2 NM_001079858.3(ADGRG2):c.2845del (p.Cys949fs)deletion Pathogenic 253013 rs879255538 X:19013038-19013038 X:18994920-18994920
2 ADGRG2 NM_001079858.3(ADGRG2):c.2002_2006delinsAGA (p.Leu668fs)indel Pathogenic 253014 rs879255539 X:19021188-19021192 X:19003070-19003074
3 ADGRG2 NM_001079858.3(ADGRG2):c.1545dup (p.Glu516Ter)duplication Pathogenic 253015 rs774488954 X:19026119-19026119 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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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