MCID: CNG039
MIFTS: 23

Congenital Absence of the Vas Deferens malady

Category: Genetic diseases (common)

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 23
 
Cavd 23

Classifications:



Summaries for Congenital Absence of the Vas Deferens

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Wikipedia:69 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 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), and among its related pathways are Cytokine production by Th17 cells in CF and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, and related mouse phenotypes are craniofacial and respiratory system.

Related Diseases for Congenital Absence of the Vas Deferens

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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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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 Deferens23

Anatomical Context for Congenital Absence of the Vas Deferens

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8CFTR, EDNRA, TGFB1
2MP:00053888.6CFTR, EDNRA, TGFB1
3MP:00053818.5CFTR, EDNRA, TGFB1
4MP:00053918.5CFTR, EDNRA, TGFB1
5MP:00053798.2CFTR, 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 24)
idTitleAuthorsYear
1
Ultrasonography in Diagnosis of Congenital Absence of the Vas Deferens. (27458088)
2016
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
Congenital absence of the vas deferens and unilateral renal agenesis: implications for patient and family. (24879556)
2014
4
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
5
Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens. (22103471)
2012
6
Pelvic cake kidney with a solitary ureter and bilateral congenital absence of the vas deferens. (19628269)
2010
7
Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype. (17673436)
2008
8
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. (17413420)
2007
9
Congenital absence of the vas deferens]. (15562795)
2004
10
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
11
Impaired spermatogenesis in men with congenital absence of the vas deferens. (11228224)
2001
12
Mutations of the cystic fibrosis gene and congenital absence of the vas deferens. (10626298)
2000
13
Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. (10653141)
2000
14
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. (10875853)
2000
15
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. (10923036)
2000
16
Evidence of mild respiratory disease in men with congenital absence of the vas deferens. (10653048)
1999
17
Testicular CFTR splice variants in patients with congenital absence of the vas deferens. (9736775)
1998
18
Congenital absence of the vas deferens: incomplete penetrance of cystic fibrosis gene mutations. (9334604)
1997
19
Congenital absence of the vas deferens: a mild form of cystic fibrosis. (8796848)
1996
20
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
21
Urogenital anomalies in men with congenital absence of the vas deferens. (8627844)
1996
22
Micromanipulation improves in-vitro fertilization results after epididymal or testicular sperm aspiration in patients with congenital absence of the vas deferens. (8943520)
1996
23
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
24
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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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
1positive regulation of odontogenesisGO:00424829.7EDNRA, TGFB1
2cellular response to mechanical stimulusGO:00712609.5EDNRA, TGFB1
3respiratory gaseous exchangeGO:00075859.4CFTR, EDNRA
4agingGO:00075689.2EDNRA, TGFB1
5response to hypoxiaGO:00016669.1EDNRA, TGFB1
6cell 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet