MCID: VSD001
MIFTS: 16

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 57 29 6
Male Urogenital Diseases 44 73
Cbavdx 57 75
Congenital Bilateral Aplasia of the Vas Deferens, X-Linked 75

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

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


Classifications:



External Ids:

OMIM 57 300985
MeSH 44 D052801
UMLS 73 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)

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). Related phenotypes are azoospermia and absent vas deferens

UniProtKB/Swiss-Prot : 75 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 9.0 ADGRG2 LOC101928415

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

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
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:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 absent vas deferens 32 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 29 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.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 rs879255540 GRCh37 Chromosome X, 19026119: 19026119
6 ADGRG2 NM_001079858.2(ADGRG2): c.1545dupT (p.Glu516Terfs) duplication Pathogenic rs879255540 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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