MCID: CNG039
MIFTS: 22

Congenital Absence of the Vas Deferens malady

Category: Genetic diseases (common)

Aliases & Classifications for Congenital Absence of the Vas Deferens

About this section

Aliases & Descriptions for Congenital Absence of the Vas Deferens:

Name: Congenital Absence of the Vas Deferens 24
 
Cavd 24

Classifications:



Summaries for Congenital Absence of the Vas Deferens

About this section
Wikipedia:71 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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 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

About this section

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



Diseases related to congenital absence of the vas deferens

Symptoms & Phenotypes for Congenital Absence of the Vas Deferens

About this section

MGI Mouse Phenotypes related to Congenital Absence of the Vas Deferens according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3CFTR, EDNRA, TGFB1
2MP:00053819.3CFTR, EDNRA, TGFB1
3MP:00053799.3CFTR, EDNRA, TGFB1
4MP:00053889.2CFTR, EDNRA, TGFB1
5MP:00053918.5CFTR, EDNRA, TGFB1

Drugs & Therapeutics for Congenital Absence of the Vas Deferens

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Congenital Absence of the Vas Deferens

Genetic Tests for Congenital Absence of the Vas Deferens

About this section

Genetic tests related to Congenital Absence of the Vas Deferens:

id Genetic test Affiliating Genes
1 Congenital Absence of the Vas Deferens24 CFTR

Anatomical Context for Congenital Absence of the Vas Deferens

About this section

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

36
Kidney

Publications for Congenital Absence of the Vas Deferens

About this section

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

About this section

Expression for genes affiliated with Congenital Absence of the Vas Deferens

About this section
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

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.3CFTR, TGFB1
29.1EDNRA, TGFB1
3
Show member pathways
9.0CFTR, EDNRA

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1agingGO:00075689.8EDNRA, TGFB1
2cell proliferationGO:00082839.7EDNRA, TGFB1
3cellular response to mechanical stimulusGO:00712609.7EDNRA, TGFB1
4positive regulation of odontogenesisGO:00424829.7EDNRA, TGFB1
5respiratory gaseous exchangeGO:00075859.6CFTR, EDNRA
6response to hypoxiaGO:00016669.1EDNRA, 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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet