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CBAVDX
MCID: VSD001
MIFTS: 27

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

Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

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

Name: Vas Deferens, Congenital Bilateral Aplasia of, X-Linked 57 29 6
Congenital Bilateral Absence of Vas Deferens, X-Linked 57 29
Male Urogenital Diseases 44 72
Cbavdx 57 74
Congenital Bilateral Aplasia of the Vas Deferens, X-Linked 74

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
vas deferens, congenital bilateral aplasia of, x-linked:
Inheritance x-linked inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
See all MalaCards categories (disease lists)


External Ids:

MeSH 44 D052801
UMLS 72 C1720894
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Summaries for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

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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)

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 bone, and related phenotypes are azoospermia and absent vas deferens

UniProtKB/Swiss-Prot : 74 Congenital bilateral aplasia of the vas deferens, X-linked: A disease characterized by bilateral absence of vas deferens, obstructive azoospermia, and infertility.

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

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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
6 vas deferens, congenital bilateral aplasia of 9.2 LOC101928415 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
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Symptoms & Phenotypes for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

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

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 absent vas deferens 32 HP:0012873

Symptoms via clinical synopsis from OMIM:

57
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
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Drugs & Therapeutics for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

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

(show all 40)
# 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 alpha-1 Receptor Antagonists Phase 2, Phase 3
4 Cholinergic Agents Phase 2, Phase 3
5 Adrenergic alpha-Antagonists Phase 2, Phase 3
6 Muscarinic Antagonists Phase 2, Phase 3
7 Adrenergic Antagonists Phase 2, Phase 3
8 Cholinergic Antagonists Phase 2, Phase 3
9 Adrenergic Agents Phase 2, Phase 3
10 Tolterodine tartrate Phase 2, Phase 3 124937-52-6
11
Selenium Approved, Investigational, Vet_approved Phase 2 7782-49-2
12 Lycopene Approved, Investigational Phase 2 502-65-8 53477748
13
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
14
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
15
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
16
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
17
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
18
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
19 Tocotrienol Investigational Phase 2 6829-55-6
20 Micronutrients Phase 2
21 Hormones Phase 2
22 Antioxidants Phase 2
23 Vitamin D2 Phase 2
24 Anti-Inflammatory Agents Phase 2
25 Tocotrienols Phase 2
26 Vitamins Phase 2
27 Tocopherols Phase 2
28 Tea Phase 2
29 Protective Agents Phase 2
30 Ergocalciferols Phase 2
31 Radiation-Protective Agents Phase 2
32 Nutrients Phase 2
33 Trace Elements Phase 2
34 Calciferol Phase 2
35 Bone Density Conservation Agents Phase 2
36 Calcium, Dietary Phase 2
37
Desflurane Approved 57041-67-5 42113
38
Nimodipine Approved, Investigational 66085-59-4 4497
39 Central Nervous System Depressants
40 Anesthetics

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

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

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

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

41
Prostate, Bone
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Publications for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

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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. 8 71
27476656 2016
2
[Mycoplasma genitalium and male urogenital diseases: An update]. 38
30173450 2018
3
Effects of a dietary supplement on chronic pelvic pain syndrome (Category IIIA), leucocytospermia and semen parameters. 38
22053857 2012
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Variations for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ADGRG2 NM_001079858.3(ADGRG2): c.2845del (p.Cys949fs) deletion Pathogenic rs879255538 X:19013038-19013038 X:18994920-18994920
2 ADGRG2 NM_001079858.3(ADGRG2): c.2002_2006delinsAGA (p.Leu668fs) indel Pathogenic rs879255539 X:19021188-19021192 X:19003070-19003074
3 ADGRG2 NM_001079858.3(ADGRG2): c.1545dup (p.Glu516Ter) duplication Pathogenic rs774488954 X:19026119-19026119 X:19008001-19008001
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Expression for Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

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

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

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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