CAVD
MCID: CNG039
MIFTS: 42

Congenital Absence of the Vas Deferens (CAVD) malady

Reproductive diseases, Fetal diseases categories

Summaries for Congenital Absence of the Vas Deferens

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: Congenital Absence of the Vas Deferens, also known as congenital bilateral absence of vas deferens, is related to conduct disorder and spermatocele. An important gene associated with Congenital Absence of the Vas Deferens is CFTR (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)). Affiliated tissues include testes and prostate.

Genetics Home Reference:21 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.

Wikipedia:63 Congenital absence of the vas deferens (CAVD) is a condition in which the vasa deferentia, male... more...

Description from OMIM:46 277180

Aliases & Classifications for Congenital Absence of the Vas Deferens

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63Wikipedia, 20GeneTests, 21Genetics Home Reference, 42NIH Rare Diseases, 44Novoseek, 46OMIM, 48Orphanet, 22GTR, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Reproductive diseases


Characteristics (Orphanet epidemiological data):

48
congenital bilateral absence of vas deferens:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

congenital absence of the vas deferens 63 20
congenital bilateral absence of vas deferens 63 21 46 48
cbavd 63 42 21 44
congenital bilateral absence of the vas deferens 42 22 21
cavd 63 42 21
congenital bilateral aplasia of vas deferens 42 48
absence of vas deferens 63 21
absent vasa 63 21
congenital bilateral agenesis of vas deferens 48
congenital aplasia of vas deferens 21
congenital absence of vas deferens 21


External Ids:

MESH via Orphanet35 C535984
ICD10 via Orphanet26 Q55.4
SNOMED-CT via Orphanet57 275416002
UMLS via Orphanet61 C0403814
OMIM46 277180

Related Diseases for Congenital Absence of the Vas Deferens

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17GeneCards, 18GeneDecks
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Diseases related to Congenital Absence of the Vas Deferens via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1conduct disorder10.5
2spermatocele10.3
3cftr-related disorders10.0

Clinical Features for Congenital Absence of the Vas Deferens

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46OMIM
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Clinical features from OMIM:

277180

Clinical synopsis from OMIM:

277180

Drugs & Therapeutics for Congenital Absence of the Vas Deferens

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Congenital Absence of the Vas Deferens

Search CenterWatch for Congenital Absence of the Vas Deferens

Genetic Tests for Congenital Absence of the Vas Deferens

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20GeneTests, 22GTR
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Genetic tests related to Congenital Absence of the Vas Deferens:

id Genetic test Affiliating Genes
1 Congenital Absence of the Vas Deferens20
2 Congenital Bilateral Absence of the Vas Deferens22

Anatomical Context for Congenital Absence of the Vas Deferens

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32MalaCards
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MalaCards organs/tissues related to Congenital Absence of the Vas Deferens:

32
Testes, Prostate

Animal Models for Congenital Absence of the Vas Deferens or affiliated genes

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Publications for Congenital Absence of the Vas Deferens

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50PubMed
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Articles related to Congenital Absence of the Vas Deferens:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. (22081250)
2012
2
The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens. (22842702)
2012
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
Management of male infertility due to congenital bilateral absence of vas deferens should not ignore the diagnosis of cystic fibrosis. (22390181)
2012
5
Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens. (22103471)
2012
6
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. (21520337)
2011
7
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
8
Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens. (20100616)
2010
9
The role of the F508C mutation in congenital bilateral absence of the vas deferens. (19092444)
2008
10
Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype. (17673436)
2008
11
Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. (17314234)
2007
12
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. (17413420)
2007
13
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
14
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
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
Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens. (16272798)
2005
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
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
Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens. (15333598)
2004
21
Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. (15070876)
2004
22
Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens. (15239534)
2004
23
Airway inflammation and infection in congenital bilateral absence of the vas deferens. (14551163)
2004
24
Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens. (14747162)
2004
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
Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. (11157821)
2001
28
Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens. (11298840)
2001
29
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
30
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
31
Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. (10653141)
2000
32
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. (10923036)
2000
33
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
34
Correlation between genito-urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens. (9598638)
1998
35
Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene. (9630075)
1998
36
The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland. (9043501)
1997
37
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD). (9067761)
1997
38
Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients. (9150843)
1997
39
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. (9239681)
1996
40
Congenital absence of the vas deferens: a mild form of cystic fibrosis. (8796848)
1996
41
Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. (8697849)
1996
42
Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities. (9147111)
1996
43
Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype. (8557264)
1996
44
Urogenital anomalies in men with congenital absence of the vas deferens. (8627844)
1996
45
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. (7529962)
1995
46
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. (7532150)
1995
47
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. (7739684)
1995
48
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. (8556303)
1995
49
Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. (7505692)
1993
50
Congenital absence of vas deferens treated by artificial spermatocele constructed from the tunica vaginalis; report of six cases. (8272538)
1993

Genetic Variations for Congenital Absence of the Vas Deferens

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Absence of the Vas Deferens:

62 (show all 15)
id Symbol AA change Variation ID SNP ID
1CFTRp.Ser50TyrVAR_000107
2CFTRp.Pro111LeuVAR_000120
3CFTRp.Arg117HisVAR_000122
4CFTRp.Gly149ArgVAR_000129
5CFTRp.Glu193LysVAR_000132
6CFTRp.Met244LysVAR_000138
7CFTRp.Arg258GlyVAR_000139rs191456345
8CFTRp.Asp513GlyVAR_000173
9CFTRp.Gly544ValVAR_000175
10CFTRp.Arg766MetVAR_000215
11CFTRp.Arg792GlyVAR_000216
12CFTRp.Ala800GlyVAR_000217
13CFTRp.Ile807MetVAR_000218rs1800103
14CFTRp.Ala1364ValVAR_000269
15CFTRp.Arg1070TrpVAR_011564rs202179988

Expression for genes affiliated with Congenital Absence of the Vas Deferens

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Absence of the Vas Deferens

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Pathways for genes affiliated with Congenital Absence of the Vas Deferens

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Compounds for genes affiliated with Congenital Absence of the Vas Deferens

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GO Terms for genes affiliated with Congenital Absence of the Vas Deferens

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Products for genes affiliated with Congenital Absence of the Vas Deferens

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  • Antibodies
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  • Antibodies

Sources for Congenital Absence of the Vas Deferens

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet