MCID: CNG039
MIFTS: 24

Congenital Absence of the Vas Deferens malady

Genetic diseases (common) category

Aliases & Classifications for Congenital Absence of the Vas Deferens

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Aliases & Descriptions for Congenital Absence of the Vas Deferens:

Name: Congenital Absence of the Vas Deferens 22
 
Cavd 22


Classifications:



Summaries for Congenital Absence of the Vas Deferens

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Wikipedia:68 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 cavd, is related to cystic fibrosis and infertility. 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)), and among its related pathways are Cytokine production by Th17 cells in CF and Pathways in cancer. Affiliated tissues include kidney, and related mouse phenotypes are craniofacial and digestive/alimentary.

Related Diseases for Congenital Absence of the Vas Deferens

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Graphical network of the top 20 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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Interventional clinical trials:

Search ClinicalTrials, 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 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:

33
Kidney

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

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MGI Mouse Phenotypes related to Congenital Absence of the Vas Deferens:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7CFTR, EDNRA, TGFB1
2MP:00053818.6CFTR, EDNRA, TGFB1
3MP:00053798.5CFTR, EDNRA, TGFB1
4MP:00053888.2CFTR, EDNRA, TGFB1

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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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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Pathways related to Congenital Absence of the Vas Deferens according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3CFTR, TGFB1
29.1EDNRA, TGFB1
3
Show member pathways
9.0CFTR, EDNRA

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

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Biological processes related to Congenital Absence of the Vas Deferens according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1respiratory gaseous exchangeGO:00075859.2CFTR, EDNRA
2response to hypoxiaGO:00016669.1EDNRA, TGFB1
3cell proliferationGO:00082838.8EDNRA, TGFB1

Molecular functions related to Congenital Absence of the Vas Deferens according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:00198999.3CFTR, TGFB1

Sources for Congenital Absence of the Vas Deferens

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet