CAVD
MCID: CNG039
MIFTS: 41

Congenital Absence of the Vas Deferens (CAVD) malady

Genetic diseases, Rare diseases, Reproductive diseases, Fetal diseases categories
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Summaries for Congenital Absence of the Vas Deferens

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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 based summary: Congenital Absence of the Vas Deferens, also known as congenital bilateral absence of vas deferens, is related to cystic fibrosis and epididymitis, and has symptoms including 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, prostate and kidney.

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

Description from OMIM:46 277180

Aliases & Classifications for Congenital Absence of the Vas Deferens

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Sources:
65Wikipedia, 20GeneTests, 21Genetics Home Reference, 42NIH Rare Diseases, 44Novoseek, 46OMIM, 48Orphanet, 22GTR, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
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Congenital Absence of the Vas Deferens, Aliases & Descriptions:

Name: Congenital Absence of the Vas Deferens 65 20
Congenital Bilateral Absence of Vas Deferens 65 21 46 48
Cbavd 65 42 21 44
Congenital Bilateral Absence of the Vas Deferens 42 22 21
Cavd 65 42 21
Congenital Bilateral Aplasia of Vas Deferens 42 48
 
Absence of Vas Deferens 65 21
Absent Vasa 65 21
Congenital Bilateral Agenesis of Vas Deferens 48
Congenital Aplasia of Vas Deferens 21
Congenital Absence of Vas Deferens 21


Classifications:



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


External Ids:

ICD10 via Orphanet26 Q55.4
UMLS via Orphanet63 C0403814
OMIM46 277180
MESH via Orphanet35 C535984

Related Diseases for Congenital Absence of the Vas Deferens

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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 13)
idRelated DiseaseScoreTop Affiliating Genes
1cystic fibrosis10.9
2epididymitis10.6
3pancreatitis10.5
4pulmonary function10.5
5renal agenesis10.4
6infertility10.4
7unilateral renal agenesis10.4
8male infertility10.4
9azoospermia10.4
10klinefelter's syndrome10.4
11spermatocele10.4
12cftr-related disorders10.0
13spermatogenic failure10.0

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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Symptoms by clinical synopsis from OMIM:

277180

Clinical features from OMIM:

277180

HPO human phenotypes related to Congenital Absence of the Vas Deferens:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 azoospermia HP:0000027
3 heterogeneous HP:0001425

Drugs & Therapeutics for Congenital Absence of the Vas Deferens

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Drug clinical trials:

Search ClinicalTrials for Congenital Absence of the Vas Deferens

Search NIH Clinical Center for Congenital Absence of the Vas Deferens

Genetic Tests for Congenital Absence of the Vas Deferens

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

32
Testes, Prostate, Kidney

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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Articles related to Congenital Absence of the Vas Deferens:

(show all 23)
idTitleAuthorsYear
1
Congenital absence of the vas deferens and unilateral renal agenesis: implications for patient and family. (24879556)
2014
2
Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers. (24958810)
2014
3
Advantages of magnetic resonance imaging (MRI) of the seminal vesicles and intra-abdominal vas deferens in patients with congenital absence of the vas deferens. (23768522)
2013
4
Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens. (22103471)
2012
5
Pelvic cake kidney with a solitary ureter and bilateral congenital absence of the vas deferens. (19628269)
2010
6
Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype. (17673436)
2008
7
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. (17413420)
2007
8
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
9
Congenital absence of the vas deferens]. (15562795)
2004
10
Impaired spermatogenesis in men with congenital absence of the vas deferens. (11228224)
2001
11
Mutations of the cystic fibrosis gene and congenital absence of the vas deferens. (10626298)
2000
12
Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. (10653141)
2000
13
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. (10875853)
2000
14
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. (10923036)
2000
15
Evidence of mild respiratory disease in men with congenital absence of the vas deferens. (10653048)
1999
16
Testicular CFTR splice variants in patients with congenital absence of the vas deferens. (9736775)
1998
17
Congenital absence of the vas deferens: incomplete penetrance of cystic fibrosis gene mutations. (9334604)
1997
18
Congenital absence of the vas deferens: a mild form of cystic fibrosis. (8796848)
1996
19
Pregnancy following in vitro fertilization and embryo transfer by microsurgical epididymal sperm aspiration from a patient with congenital absence of the vas deferens: a case report. (8634933)
1996
20
Urogenital anomalies in men with congenital absence of the vas deferens. (8627844)
1996
21
Micromanipulation improves in-vitro fertilization results after epididymal or testicular sperm aspiration in patients with congenital absence of the vas deferens. (8943520)
1996
22
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
23
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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UniProtKB/Swiss-Prot genetic disease variations for Congenital Absence of the Vas Deferens:

64 (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:

6
id Gene Name Type Significance SNP ID Assembly Location
1CFTRNM_000492.3(CFTR): c.2374C> G (p.Arg792Gly)single nucleotide variantLikely pathogenicrs145449046GRCh37Chr 7, 117232595: 117232595
2CFTRNM_000492.3(CFTR): c.2813T> G (p.Val938Gly)single nucleotide variantLikely pathogenicrs193922511GRCh37Chr 7, 117243741: 117243741
3CFTRNM_000492.3(CFTR): c.4056G> T (p.Gln1352His)single nucleotide variantLikely pathogenicrs113857788GRCh37Chr 7, 117304834: 117304834
4CFTRNM_000492.3(CFTR): c.350G> A (p.Arg117His)single nucleotide variantLikely pathogenicrs78655421GRCh37Chr 7, 117171029: 117171029
5CFTRNM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn)single nucleotide variantPathogenicrs11971167GRCh37Chr 7, 117282582: 117282582
6CFTRNM_000492.3(CFTR): c.1727G> C (p.Gly576Ala)single nucleotide variantPathogenicrs1800098GRCh37Chr 7, 117230454: 117230454

Expression for genes affiliated with Congenital Absence of the Vas Deferens

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet