CAVD
MCID: CNG039
MIFTS: 39

Congenital Absence of the Vas Deferens (CAVD) malady

Genetic diseases, Rare diseases, Reproductive diseases, Fetal diseases categories

Summaries for Congenital Absence of the Vas Deferens

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 cystic fibrosis and renal agenesis. 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:22 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:66 Congenital absence of the vas deferens (CAVD) is a condition in which the vasa deferentia, male... more...

Description from OMIM:48 277180

Aliases & Classifications for Congenital Absence of the Vas Deferens

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66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 66 21
congenital bilateral absence of vas deferens 66 22 48 50
cbavd 66 44 22 46
congenital bilateral absence of the vas deferens 44 23 22
cavd 66 44 22
congenital bilateral aplasia of vas deferens 44 50
absence of vas deferens 66 22
absent vasa 66 22
congenital bilateral agenesis of vas deferens 50
congenital aplasia of vas deferens 22
congenital absence of vas deferens 22


External Ids:

MESH via Orphanet37 C535984
ICD10 via Orphanet27 Q55.4
SNOMED-CT via Orphanet60 275416002
UMLS via Orphanet64 C0403814
OMIM48 277180

Related Diseases for Congenital Absence of the Vas Deferens

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18GeneCards, 19GeneDecks
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Diseases related to Congenital Absence of the Vas Deferens via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1cystic fibrosis10.8
2renal agenesis10.5
3pancreatitis10.5
4pulmonary function10.5
5unilateral renal agenesis10.5
6infertility10.4
7klinefelter's syndrome10.3
8spermatocele10.3
9azoospermia10.3
10male infertility10.3
11epididymitis10.3
12cftr-related disorders10.0

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



Diseases related to congenital absence of the vas deferens

Symptoms for Congenital Absence of the Vas Deferens

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48OMIM
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Symptoms by clinical synopsis from OMIM:

277180

Clinical features from OMIM:

277180

Drugs & Therapeutics for Congenital Absence of the Vas Deferens

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Congenital Absence of the Vas Deferens

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21GeneTests, 23GTR
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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 Deferens21
2 Congenital Bilateral Absence of the Vas Deferens23

Anatomical Context for Congenital Absence of the Vas Deferens

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34MalaCards
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MalaCards organs/tissues related to Congenital Absence of the Vas Deferens:

34
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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53PubMed
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Articles related to Congenital Absence of the Vas Deferens:

(show all 11)
idTitleAuthorsYear
1
Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens. (22103471)
2012
2
Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype. (17673436)
2008
3
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. (17413420)
2007
4
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
5
Congenital absence of the vas deferens]. (15562795)
2004
6
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. (10923036)
2000
7
Testicular CFTR splice variants in patients with congenital absence of the vas deferens. (9736775)
1998
8
Congenital absence of the vas deferens: a mild form of cystic fibrosis. (8796848)
1996
9
Urogenital anomalies in men with congenital absence of the vas deferens. (8627844)
1996
10
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
11
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. (7739684)
1995

Variations for Congenital Absence of the Vas Deferens

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Absence of the Vas Deferens:

65 (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

Clinvar genetic disease variations for Congenital Absence of the Vas Deferens:

1
id Gene Name Type Significance SNP ID Assembly Location
1CFTRNM_000492.3(CFTR): c.350G> A (p.Arg117His)single nucleotide variantLikely pathogenic, Pathogenicrs78655421GRCh37Chr 7, 117171029: 117171029
2CFTRNM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn)single nucleotide variantPathogenicrs11971167GRCh37Chr 7, 117282582: 117282582
3CFTRNM_000492.3(CFTR): c.1727G> C (p.Gly576Ala)single nucleotide variantPathogenic, Uncertain significancers1800098GRCh37Chr 7, 117230454: 117230454

Expression for genes affiliated with Congenital Absence of the Vas Deferens

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2BioGPS, 16Gene 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
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Absence of the Vas Deferens

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet