MCID: VSD001
MIFTS: 15

Vas Deferens, Congenital Bilateral Aplasia of, X-Linked

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 53 28
Male Urogenital Diseases 41 69
Cbavdx 53 71
Congenital Bilateral Aplasia of the Vas Deferens, X-Linked 71

Characteristics:

OMIM:

53
Inheritance:
x-linked


HPO:

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


Classifications:



External Ids:

OMIM 53 300985
MeSH 41 D052801
UMLS 69 C1720894

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

OMIM : 53 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, is also known as male urogenital diseases, and has symptoms including azoospermia, absent vas deferens and 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).

UniProtKB/Swiss-Prot : 71 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

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

Symptoms via clinical synopsis from OMIM:

53
Genitourinary Internal Genitalia Male:
reduced testicular volume (in some patients)
azoospermia
low semen volume
acid ph of semen (in some patients)
absent vas deferens
more

Clinical features from OMIM:

300985

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

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

Search Clinical Trials , 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 28 ADGRG2

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

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

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.2002_2006delCTGTGinsAGA (p.Leu668Argfs) indel Pathogenic rs879255539 GRCh37 Chromosome X, 19021188: 19021192
3 ADGRG2 NM_001079858.2(ADGRG2): c.1545dupT (p.Glu516Terfs) duplication Pathogenic rs879255540 GRCh37 Chromosome X, 19026119: 19026119

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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