MCID: CNG035
MIFTS: 37

Congenital Bilateral Absence of Vas Deferens

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Fetal diseases

Aliases & Classifications for Congenital Bilateral Absence of Vas Deferens

MalaCards integrated aliases for Congenital Bilateral Absence of Vas Deferens:

Name: Congenital Bilateral Absence of Vas Deferens 54 25 56 13
Congenital Bilateral Absence of the Vas Deferens 50 25 71 29
Cbavd 50 25 71 52
Congenital Bilateral Aplasia of Vas Deferens 50 56
Cavd 50 25
Congenital Bilateral Agenesis of Vas Deferens 56
Congenital Absence of Vas Deferens 25
Congenital Aplasia of Vas Deferens 25
Absence of Vas Deferens 25
Absent Vasa 25

Characteristics:

Orphanet epidemiological data:

56
congenital bilateral absence of vas deferens
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

54
Miscellaneous:
genetic heterogeneity

Inheritance:
autosomal recessive


HPO:

32
congenital bilateral absence of vas deferens:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 277180
Orphanet 56 ORPHA48
MESH via Orphanet 43 C535984
UMLS via Orphanet 70 C0403814
ICD10 via Orphanet 34 Q55.4

Summaries for Congenital Bilateral Absence of Vas Deferens

NIH Rare Diseases : 50 congenital bilateral absence of the vas deferens (cbavd) occurs in males when the tubes that carry sperm out of the testes (vas deferens) fail to develop properly. although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. as a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. this condition has not been reported to affect sex drive or sexual performance. this condition can occur alone or as a sign of cystic fibrosis, an inherited disease of the mucus glands. many men with cbavd do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems. last updated: 12/22/2011

MalaCards based summary : Congenital Bilateral Absence of Vas Deferens, also known as congenital bilateral absence of the vas deferens, is related to congenital absence of the vas deferens and vas deferens, congenital bilateral aplasia of, x-linked, and has symptoms including oligospermia, male infertility and absent vas deferens. An important gene associated with Congenital Bilateral Absence of Vas Deferens is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator). Affiliated tissues include testes and prostate.

UniProtKB/Swiss-Prot : 71 Congenital bilateral absence of the vas deferens: Important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens.

Genetics Home Reference : 25 Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance.

OMIM : 54
Congenital bilateral absence of the vas deferens 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, mutations are identified in the CFTR gene (summary by Patat et al., 2016). (277180)

Related Diseases for Congenital Bilateral Absence of Vas Deferens

Diseases related to Congenital Bilateral Absence of Vas Deferens via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 congenital absence of the vas deferens 11.4
2 vas deferens, congenital bilateral aplasia of, x-linked 11.2
3 cystic fibrosis 10.5
4 azoospermia 10.2
5 infertility 10.2
6 male infertility 10.0
7 hyperlysinemia 9.5 ADGRG2 CFTR

Graphical network of the top 20 diseases related to Congenital Bilateral Absence of Vas Deferens:



Diseases related to Congenital Bilateral Absence of Vas Deferens

Symptoms & Phenotypes for Congenital Bilateral Absence of Vas Deferens

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Internal Genitalia Male:
azoospermia
vas deferens aplasia


Clinical features from OMIM:

277180

Human phenotypes related to Congenital Bilateral Absence of Vas Deferens:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oligospermia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000798
2 male infertility 56 32 hallmark (90%) Very frequent (99-80%) HP:0003251
3 absent vas deferens 56 32 hallmark (90%) Very frequent (99-80%) HP:0012873
4 abnormal renal morphology 56 32 occasional (7.5%) Occasional (29-5%) HP:0012210
5 obstructive azoospermia 56 32 hallmark (90%) Very frequent (99-80%) HP:0011962
6 azoospermia 32 HP:0000027

Drugs & Therapeutics for Congenital Bilateral Absence of Vas Deferens

Search Clinical Trials , NIH Clinical Center for Congenital Bilateral Absence of Vas Deferens

Genetic Tests for Congenital Bilateral Absence of Vas Deferens

Genetic tests related to Congenital Bilateral Absence of Vas Deferens:

id Genetic test Affiliating Genes
1 Congenital Bilateral Absence of the Vas Deferens 29

Anatomical Context for Congenital Bilateral Absence of Vas Deferens

MalaCards organs/tissues related to Congenital Bilateral Absence of Vas Deferens:

39
Testes, Prostate

Publications for Congenital Bilateral Absence of Vas Deferens

Articles related to Congenital Bilateral Absence of Vas Deferens:

(show all 28)
id Title Authors Year
1
The CFTR gene mild variants poly-T, TG repeats and M470V detection in Indian men with congenital bilateral absence of vas deferens. ( 28776713 )
2017
2
Scrotal Ultrasonic Features of Congenital Bilateral Absence of Vas Deferens. ( 28541268 )
2017
3
Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies. ( 27488005 )
2016
4
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. ( 27476656 )
2016
5
Editorial Comment to p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens). ( 26010140 )
2015
6
p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens). ( 25944622 )
2015
7
Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens. ( 24559724 )
2014
8
Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of vas deferens and other acquired obstructive azoospermia. ( 23953609 )
2013
9
[Association of CFTR gene polymorphism with congenital bilateral absence of vas deferens in ethnic Han Chinese patients]. ( 24327157 )
2013
10
Management of male infertility due to congenital bilateral absence of vas deferens should not ignore the diagnosis of cystic fibrosis. ( 22390181 )
2012
11
Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa. ( 22148899 )
2012
12
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens. ( 22483971 )
2012
13
Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants. ( 21254931 )
2011
14
Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols. ( 20657600 )
2010
15
CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure. ( 18796364 )
2008
16
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens. ( 18304229 )
2008
17
Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD). ( 17050329 )
2006
18
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD). ( 15580565 )
2005
19
Isolated congenital bilateral absence of vas deferens (CBAVD): a rare anomaly and diagnostic dilemma. ( 14558746 )
2003
20
Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens. ( 11574497 )
2001
21
Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene. ( 10066035 )
1999
22
Assisted reproduction technology for patients with congenital bilateral absence of vas deferens. ( 10081860 )
1999
23
Re: Assisted reproductive technology for patients with congenital bilateral absence of vas deferens. ( 10492217 )
1999
24
Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene. ( 9630075 )
1998
25
Successful pregnancy in a case of azoospermia from congenital bilateral absence of vas deferens (CBAVD) using percutaneous epididymal sperm aspiration (PESA) and intracytoplasmic sperm injection (ICSI). ( 9623039 )
1998
26
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD). ( 9067761 )
1997
27
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. ( 7529962 )
1995
28
Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. ( 7539342 )
1995

Variations for Congenital Bilateral Absence of Vas Deferens

UniProtKB/Swiss-Prot genetic disease variations for Congenital Bilateral Absence of Vas Deferens:

71 (show all 15)
id Symbol AA change Variation ID SNP ID
1 CFTR p.Ser50Tyr VAR_000107 rs397508220
2 CFTR p.Pro111Leu VAR_000120 rs140502196
3 CFTR p.Arg117His VAR_000122 rs78655421
4 CFTR p.Gly149Arg VAR_000129 rs397508718
5 CFTR p.Glu193Lys VAR_000132 rs397508759
6 CFTR p.Met244Lys VAR_000138 rs397508790
7 CFTR p.Arg258Gly VAR_000139 rs191456345
8 CFTR p.Asp513Gly VAR_000173 rs397508225
9 CFTR p.Gly544Val VAR_000175 rs397508241
10 CFTR p.Arg766Met VAR_000215 rs397508363
11 CFTR p.Arg792Gly VAR_000216 rs145449046
12 CFTR p.Ala800Gly VAR_000217 rs397508373
13 CFTR p.Ile807Met VAR_000218 rs1800103
14 CFTR p.Ala1364Val VAR_000269 rs397508670
15 CFTR p.Arg1070Trp VAR_011564 rs202179988

ClinVar genetic disease variations for Congenital Bilateral Absence of Vas Deferens:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh37 Chromosome 7, 117171029: 117171029
2 CFTR NM_000492.3(CFTR): c.1210-12_1210-6T[5] short repeat risk factor rs727504486 GRCh37 Chromosome 7, 117188683: 117188689
3 CFTR NM_000492.3(CFTR): c.2813T> G (p.Val938Gly) single nucleotide variant Pathogenic rs193922511 GRCh37 Chromosome 7, 117243741: 117243741
4 CFTR NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln) single nucleotide variant Pathogenic/Likely pathogenic rs78769542 GRCh37 Chromosome 7, 117251704: 117251704
5 CFTR NM_000492.3(CFTR): c.3454G> C (p.Asp1152His) single nucleotide variant Pathogenic rs75541969 GRCh37 Chromosome 7, 117254753: 117254753
6 CFTR NM_000492.3(CFTR): c.4056G> T (p.Gln1352His) single nucleotide variant Likely pathogenic rs113857788 GRCh37 Chromosome 7, 117304834: 117304834
7 CFTR NM_000492.3(CFTR): c.3208C> T (p.Arg1070Trp) single nucleotide variant Pathogenic rs202179988 GRCh37 Chromosome 7, 117251703: 117251703
8 CFTR NM_000492.3(CFTR): c.476T> C (p.Leu159Ser) single nucleotide variant Likely pathogenic rs397508727 GRCh37 Chromosome 7, 117171155: 117171155
9 ADGRG2 NM_001079858.2(ADGRG2): c.2845delT (p.Cys949Alafs) deletion Pathogenic rs879255538 GRCh37 Chromosome X, 19013038: 19013038
10 ADGRG2 NM_001079858.2(ADGRG2): c.2002_2006delCTGTGinsAGA (p.Leu668Argfs) indel Pathogenic rs879255539 GRCh37 Chromosome X, 19021188: 19021192
11 ADGRG2 NM_001079858.2(ADGRG2): c.1545dupT (p.Glu516Terfs) duplication Pathogenic rs879255540 GRCh37 Chromosome X, 19026119: 19026119

Copy number variations for Congenital Bilateral Absence of Vas Deferens from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 218756 7 116907252 117095954 Deletion CFTR Congenital bilateral absence of the vas deferens
2 218760 7 116907252 117095954 Genomic rearrangement CFTR Congenital bilateral absence of the vas deferens

Expression for Congenital Bilateral Absence of Vas Deferens

Search GEO for disease gene expression data for Congenital Bilateral Absence of Vas Deferens.

Pathways for Congenital Bilateral Absence of Vas Deferens

GO Terms for Congenital Bilateral Absence of Vas Deferens

Cellular components related to Congenital Bilateral Absence of Vas Deferens according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.16 ADGRG2 CFTR
2 cell surface GO:0009986 8.96 ADGRG2 CFTR
3 apical plasma membrane GO:0016324 8.62 ADGRG2 CFTR

Sources for Congenital Bilateral Absence of Vas Deferens

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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