MCID: CNG039
MIFTS: 15

Congenital Absence of the Vas Deferens malady

Genetic diseases (common) category

Summaries for Congenital Absence of the Vas Deferens

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

MalaCards based summary: Congenital Absence of the Vas Deferens, also known as cbavd, is related to congenital bilateral absence of vas deferens and cystic fibrosis. 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)).

Aliases & Classifications for Congenital Absence of the Vas Deferens

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Sources:
63Wikipedia, 20GeneTests, 43Novoseek
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Congenital Absence of the Vas Deferens, Aliases & Descriptions:

Name: Congenital Absence of the Vas Deferens 63 20
Cbavd 63 43
Congenital Bilateral Absence of Vas Deferens 63
 
Absence of Vas Deferens 63
Absent Vasa 63
Cavd 63


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital bilateral absence of vas deferens11.1
2cystic fibrosis10.9
3epididymitis10.6
4infertility10.4
5unilateral renal agenesis10.4
6male infertility10.4
7klinefelter's syndrome10.4
8spermatocele10.4
9azoospermia10.4
10cftr-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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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

Anatomical Context for Congenital Absence of the Vas Deferens

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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 22)
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
Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype. (17673436)
2008
6
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. (17413420)
2007
7
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
8
Congenital absence of the vas deferens]. (15562795)
2004
9
Impaired spermatogenesis in men with congenital absence of the vas deferens. (11228224)
2001
10
Mutations of the cystic fibrosis gene and congenital absence of the vas deferens. (10626298)
2000
11
Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. (10653141)
2000
12
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. (10875853)
2000
13
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. (10923036)
2000
14
Evidence of mild respiratory disease in men with congenital absence of the vas deferens. (10653048)
1999
15
Testicular CFTR splice variants in patients with congenital absence of the vas deferens. (9736775)
1998
16
Congenital absence of the vas deferens: incomplete penetrance of cystic fibrosis gene mutations. (9334604)
1997
17
Congenital absence of the vas deferens: a mild form of cystic fibrosis. (8796848)
1996
18
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
19
Urogenital anomalies in men with congenital absence of the vas deferens. (8627844)
1996
20
Micromanipulation improves in-vitro fertilization results after epididymal or testicular sperm aspiration in patients with congenital absence of the vas deferens. (8943520)
1996
21
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
22
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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Clinvar genetic disease variations for Congenital Absence of the Vas Deferens:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CFTRNM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn)single nucleotide variantPathogenicrs11971167GRCh37Chr 7, 117282582: 117282582

Expression for genes affiliated with Congenital Absence of the Vas Deferens

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

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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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet