MCID: VSD002
MIFTS: 35

Vas Deferens, Congenital Bilateral Aplasia of

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

Aliases & Classifications for Vas Deferens, Congenital Bilateral Aplasia of

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

Name: Vas Deferens, Congenital Bilateral Aplasia of 57 76
Congenital Bilateral Absence of the Vas Deferens 53 25 75 29 6
Congenital Bilateral Absence of Vas Deferens 57 25 59 37 13
Cbavd 57 53 25 75 55
Cavd 57 53 25
Congenital Bilateral Aplasia of Vas Deferens 53 59
Congenital Bilateral Agenesis of Vas Deferens 59
Vas Deferens, Congenital Bilateral Absence 40
Congenital Absence of Vas Deferens 25
Congenital Aplasia of Vas Deferens 25
Absence of Vas Deferens 25
Absent Vas Deferens 6
Absent Vasa 25

Characteristics:

Orphanet epidemiological data:

59
congenital bilateral absence of vas deferens
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

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


Classifications:



External Ids:

OMIM 57 277180
Orphanet 59 ORPHA48
MESH via Orphanet 45 C535984
UMLS via Orphanet 74 C0403814
ICD10 via Orphanet 34 Q55.4
KEGG 37 H01033

Summaries for Vas Deferens, Congenital Bilateral Aplasia of

NIH Rare Diseases : 53 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.

MalaCards based summary : Vas Deferens, Congenital Bilateral Aplasia of, also known as congenital bilateral absence of the vas deferens, is related to vas deferens, congenital bilateral aplasia of, x-linked and cystic fibrosis. An important gene associated with Vas Deferens, Congenital Bilateral Aplasia of is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), and among its related pathways/superpathways is ABC transporters. Affiliated tissues include testes and prostate, and related phenotypes are abnormal renal morphology and oligospermia

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 : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Congenital absence of the vas deferens (CAVD) is a condition in which the vasa deferentia reproductive... more...

Related Diseases for Vas Deferens, Congenital Bilateral Aplasia of

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

# Related Disease Score Top Affiliating Genes
1 vas deferens, congenital bilateral aplasia of, x-linked 32.1 ADGRG2 LOC101928415
2 cystic fibrosis 10.6
3 renal hypodysplasia/aplasia 1 10.2
4 azoospermia 9.9
5 infertility 9.9

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



Diseases related to Vas Deferens, Congenital Bilateral Aplasia of

Symptoms & Phenotypes for Vas Deferens, Congenital Bilateral Aplasia of

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
vas deferens aplasia
azoospermia


Clinical features from OMIM:

277180

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

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal renal morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012210
2 oligospermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000798
3 male infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0003251
4 obstructive azoospermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011962
5 absent vas deferens 59 32 hallmark (90%) Very frequent (99-80%) HP:0012873
6 azoospermia 32 HP:0000027

Drugs & Therapeutics for Vas Deferens, Congenital Bilateral Aplasia of

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

Genetic Tests for Vas Deferens, Congenital Bilateral Aplasia of

Genetic tests related to Vas Deferens, Congenital Bilateral Aplasia of:

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

Anatomical Context for Vas Deferens, Congenital Bilateral Aplasia of

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

41
Testes, Prostate

Publications for Vas Deferens, Congenital Bilateral Aplasia of

Articles related to Vas Deferens, Congenital Bilateral Aplasia of:

(show all 42)
# Title Authors Year
1
Molecular screening of CFTR gene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study. ( 26989879 )
2016
2
The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens. ( 24551851 )
2014
3
[Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens]. ( 23214250 )
2012
4
The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens. ( 22842702 )
2012
5
CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. ( 22081250 )
2012
6
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens. ( 20972246 )
2011
7
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. ( 21520337 )
2011
8
Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens. ( 20100616 )
2010
9
Activated caspases in thawed epididymal and testicular spermatozoa of patients with congenital bilateral absence of the vas deferens and intracytoplasmic sperm injection outcome. ( 18774565 )
2009
10
Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens. ( 19095672 )
2009
11
The role of the F508C mutation in congenital bilateral absence of the vas deferens. ( 19092444 )
2008
12
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. ( 17329263 )
2007
13
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders. ( 17975025 )
2007
14
Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. ( 17314234 )
2007
15
Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens. ( 16714368 )
2006
16
Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens. ( 16973827 )
2006
17
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. ( 15905293 )
2005
18
Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens. ( 16272798 )
2005
19
A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens. ( 15705389 )
2005
20
Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens. ( 15239534 )
2004
21
Airway inflammation and infection in congenital bilateral absence of the vas deferens. ( 14551163 )
2004
22
Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens. ( 14747162 )
2004
23
Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. ( 15070876 )
2004
24
CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. ( 15463840 )
2003
25
Birth after intracytoplasmic injection of epididymal sperm from a man with congenital bilateral absence of the vas deferens who had a robertsonian translocation. ( 12801574 )
2003
26
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. ( 12151438 )
2002
27
Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens. ( 11298840 )
2001
28
Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. ( 11157821 )
2001
29
Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling. ( 11119745 )
2000
30
Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels. ( 10762539 )
2000
31
Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens. ( 10050655 )
1999
32
Correlation between genito-urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens. ( 9598638 )
1998
33
Nasal potential difference in congenital bilateral absence of the vas deferens. ( 9731023 )
1998
34
The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland. ( 9043501 )
1997
35
Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients. ( 9150843 )
1997
36
Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype. ( 8557264 )
1996
37
Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. ( 8697849 )
1996
38
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. ( 9239681 )
1996
39
Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities. ( 9147111 )
1996
40
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. ( 8556303 )
1995
41
Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. ( 7505692 )
1993
42
Congenital bilateral absence of the vas deferens and cystic fibrosis. A genetic commonality. ( 8343799 )
1993

Variations for Vas Deferens, Congenital Bilateral Aplasia of

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

75 (show all 20)
# Symbol AA change Variation ID SNP ID
1 CFTR p.Ser50Tyr VAR_000107 rs397508220
2 CFTR p.Arg74Trp VAR_000110 rs115545701
3 CFTR p.Pro111Leu VAR_000120 rs140502196
4 CFTR p.Arg117His VAR_000122 rs78655421
5 CFTR p.Gly149Arg VAR_000129 rs397508718
6 CFTR p.Glu193Lys VAR_000132 rs397508759
7 CFTR p.Leu206Trp VAR_000136 rs121908752
8 CFTR p.Met244Lys VAR_000138 rs397508790
9 CFTR p.Arg258Gly VAR_000139 rs191456345
10 CFTR p.Arg334Trp VAR_000148 rs121909011
11 CFTR p.Asp513Gly VAR_000173 rs397508225
12 CFTR p.Gly544Val VAR_000175 rs397508241
13 CFTR p.Arg766Met VAR_000215 rs397508363
14 CFTR p.Arg792Gly VAR_000216 rs145449046
15 CFTR p.Ala800Gly VAR_000217 rs397508373
16 CFTR p.Ile807Met VAR_000218 rs1800103
17 CFTR p.Asp1152His VAR_000251 rs75541969
18 CFTR p.Asp1270Asn VAR_000260 rs11971167
19 CFTR p.Ala1364Val VAR_000269 rs397508670
20 CFTR p.Arg1070Trp VAR_011564 rs202179988

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

6
(show all 37)
# 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.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh38 Chromosome 7, 117530975: 117530975
3 CFTR NM_000492.3(CFTR): c.1210-12_1210-6T[5] short repeat risk factor rs727504486 GRCh37 Chromosome 7, 117188683: 117188689
4 CFTR NM_000492.3(CFTR): c.1210-12_1210-6T[5] short repeat risk factor rs727504486 GRCh38 Chromosome 7, 117548629: 117548635
5 CFTR NM_000492.3(CFTR): c.3095A> G (p.Tyr1032Cys) single nucleotide variant Pathogenic/Likely pathogenic rs144055758 GRCh37 Chromosome 7, 117250679: 117250679
6 CFTR NM_000492.3(CFTR): c.3095A> G (p.Tyr1032Cys) single nucleotide variant Pathogenic/Likely pathogenic rs144055758 GRCh38 Chromosome 7, 117610625: 117610625
7 CFTR NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln) single nucleotide variant Pathogenic/Likely pathogenic rs78769542 GRCh37 Chromosome 7, 117251704: 117251704
8 CFTR NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln) single nucleotide variant Pathogenic/Likely pathogenic rs78769542 GRCh38 Chromosome 7, 117611650: 117611650
9 CFTR NM_000492.3(CFTR): c.3454G> C (p.Asp1152His) single nucleotide variant Pathogenic/Likely pathogenic rs75541969 GRCh37 Chromosome 7, 117254753: 117254753
10 CFTR NM_000492.3(CFTR): c.3454G> C (p.Asp1152His) single nucleotide variant Pathogenic/Likely pathogenic rs75541969 GRCh38 Chromosome 7, 117614699: 117614699
11 CFTR NM_000492.3(CFTR): c.4056G> T (p.Gln1352His) single nucleotide variant Likely pathogenic rs113857788 GRCh37 Chromosome 7, 117304834: 117304834
12 CFTR NM_000492.3(CFTR): c.4056G> T (p.Gln1352His) single nucleotide variant Likely pathogenic rs113857788 GRCh38 Chromosome 7, 117664780: 117664780
13 CFTR NM_000492.3(CFTR): c.1007T> A (p.Ile336Lys) single nucleotide variant Pathogenic rs397508139 GRCh37 Chromosome 7, 117180291: 117180291
14 CFTR NM_000492.3(CFTR): c.1007T> A (p.Ile336Lys) single nucleotide variant Pathogenic rs397508139 GRCh38 Chromosome 7, 117540237: 117540237
15 CFTR NM_000492.3(CFTR): c.2856G> C (p.Met952Ile) single nucleotide variant Pathogenic rs151048781 GRCh37 Chromosome 7, 117243784: 117243784
16 CFTR NM_000492.3(CFTR): c.2856G> C (p.Met952Ile) single nucleotide variant Pathogenic rs151048781 GRCh38 Chromosome 7, 117603730: 117603730
17 CFTR NM_000492.3(CFTR): c.2936A> C (p.Asp979Ala) single nucleotide variant Likely pathogenic rs397508462 GRCh37 Chromosome 7, 117246755: 117246755
18 CFTR NM_000492.3(CFTR): c.2936A> C (p.Asp979Ala) single nucleotide variant Likely pathogenic rs397508462 GRCh38 Chromosome 7, 117606701: 117606701
19 CFTR NM_000492.3(CFTR): c.2939T> A (p.Ile980Lys) single nucleotide variant Likely pathogenic rs397508463 GRCh37 Chromosome 7, 117246758: 117246758
20 CFTR NM_000492.3(CFTR): c.2939T> A (p.Ile980Lys) single nucleotide variant Likely pathogenic rs397508463 GRCh38 Chromosome 7, 117606704: 117606704
21 CFTR NM_000492.3(CFTR): c.3208C> T (p.Arg1070Trp) single nucleotide variant Pathogenic/Likely pathogenic rs202179988 GRCh37 Chromosome 7, 117251703: 117251703
22 CFTR NM_000492.3(CFTR): c.3208C> T (p.Arg1070Trp) single nucleotide variant Pathogenic/Likely pathogenic rs202179988 GRCh38 Chromosome 7, 117611649: 117611649
23 CFTR NM_000492.3(CFTR): c.476T> C (p.Leu159Ser) single nucleotide variant Likely pathogenic rs397508727 GRCh37 Chromosome 7, 117171155: 117171155
24 CFTR NM_000492.3(CFTR): c.476T> C (p.Leu159Ser) single nucleotide variant Likely pathogenic rs397508727 GRCh38 Chromosome 7, 117531101: 117531101
25 CFTR NM_000492.3(CFTR): c.1210-11T> G single nucleotide variant Conflicting interpretations of pathogenicity, other rs73715573 GRCh37 Chromosome 7, 117188684: 117188684
26 CFTR NM_000492.3(CFTR): c.1210-11T> G single nucleotide variant Conflicting interpretations of pathogenicity, other rs73715573 GRCh38 Chromosome 7, 117548630: 117548630
27 CFTR NM_000492.3(CFTR): c.220C> T (p.Arg74Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs115545701 GRCh37 Chromosome 7, 117149143: 117149143
28 CFTR NM_000492.3(CFTR): c.220C> T (p.Arg74Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs115545701 GRCh38 Chromosome 7, 117509089: 117509089
29 ADGRG2 NM_001079858.2(ADGRG2): c.2845delT (p.Cys949Alafs) deletion Pathogenic rs879255538 GRCh37 Chromosome X, 19013038: 19013038
30 ADGRG2 NM_001079858.2(ADGRG2): c.2845delT (p.Cys949Alafs) deletion Pathogenic rs879255538 GRCh38 Chromosome X, 18994920: 18994920
31 ADGRG2 NM_001079858.2(ADGRG2): c.2002_2006delCTGTGinsAGA (p.Leu668Argfs) indel Pathogenic rs879255539 GRCh37 Chromosome X, 19021188: 19021192
32 ADGRG2 NM_001079858.2(ADGRG2): c.2002_2006delCTGTGinsAGA (p.Leu668Argfs) indel Pathogenic rs879255539 GRCh38 Chromosome X, 19003070: 19003074
33 ADGRG2 NM_001079858.2(ADGRG2): c.1545dupT (p.Glu516Terfs) duplication Pathogenic rs879255540 GRCh37 Chromosome X, 19026119: 19026119
34 ADGRG2 NM_001079858.2(ADGRG2): c.1545dupT (p.Glu516Terfs) duplication Pathogenic rs879255540 GRCh38 Chromosome X, 19008001: 19008001
35 46;XY;inv(10)(q11.2q24)dn inversion Pathogenic
36 CFTR NM_000492.3(CFTR): c.3139+1delG deletion Likely pathogenic rs146795445 GRCh38 Chromosome 7, 117610670: 117610670
37 CFTR NM_000492.3(CFTR): c.3139+1delG deletion Likely pathogenic rs146795445 GRCh37 Chromosome 7, 117250724: 117250724

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

7
# 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 Vas Deferens, Congenital Bilateral Aplasia of

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

Pathways for Vas Deferens, Congenital Bilateral Aplasia of

Pathways related to Vas Deferens, Congenital Bilateral Aplasia of according to KEGG:

37
# Name Kegg Source Accession
1 ABC transporters hsa02010

GO Terms for Vas Deferens, Congenital Bilateral Aplasia of

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.96 ADGRG2 CFTR
2 apical plasma membrane GO:0016324 8.62 ADGRG2 CFTR

Sources for Vas Deferens, Congenital Bilateral Aplasia of

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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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