CAVD
MCID: CNG039
MIFTS: 22

Congenital Absence of the Vas Deferens (CAVD) malady

Categories: Genetic diseases

Aliases & Classifications for Congenital Absence of the Vas Deferens

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

MalaCards based summary : Congenital Absence of the Vas Deferens, also known as cavd, is related to cystic fibrosis and congenital absence of the vas deferens and congenital bilateral absence of vas deferens. An important gene associated with Congenital Absence of the Vas Deferens is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), and among its related pathways/superpathways are cAMP signaling pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, and related phenotypes are craniofacial and digestive/alimentary

Wikipedia : 71 Congenital absence of the vas deferens (CAVD) is a condition in which the vasa deferentia reproductive... more...

Related Diseases for Congenital Absence of the Vas Deferens

Diseases related to Congenital Absence of the Vas Deferens via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 cystic fibrosis and congenital absence of the vas deferens 12.3
2 congenital bilateral absence of vas deferens 11.0
3 cystic fibrosis 10.4
4 infertility 10.0
5 chitotriosidase deficiency 10.0 CFTR TGFB1
6 acute chest syndrome 9.9 CFTR TGFB1
7 hyperlysinemia 9.9 CFTR TGFB1
8 neuroectodermal endocrine syndrome 9.9 EDNRA TGFB1
9 subcorneal pustular dermatosis 9.9 CFTR TGFB1
10 fiedler's myocarditis 9.9 EDNRA TGFB1
11 sydenham chorea 9.7 EDNRA TGFB1
12 coq7-related coenzyme q10 deficiency 9.7 CFTR EDNRA TGFB1

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 & Phenotypes for Congenital Absence of the Vas Deferens

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 CFTR EDNRA TGFB1
2 digestive/alimentary MP:0005381 9.43 CFTR EDNRA TGFB1
3 endocrine/exocrine gland MP:0005379 9.33 CFTR EDNRA TGFB1
4 respiratory system MP:0005388 9.13 CFTR EDNRA TGFB1
5 vision/eye MP:0005391 8.8 CFTR EDNRA TGFB1

Drugs & Therapeutics for Congenital Absence of the Vas Deferens

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

Genetic Tests for Congenital Absence of the Vas Deferens

Genetic tests related to Congenital Absence of the Vas Deferens:

id Genetic test Affiliating Genes
1 Congenital Absence of the Vas Deferens 24 CFTR

Anatomical Context for Congenital Absence of the Vas Deferens

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

39
Kidney

Publications for Congenital Absence of the Vas Deferens

Articles related to Congenital Absence of the Vas Deferens:

(show all 24)
id Title Authors Year
1
Ultrasonography in Diagnosis of Congenital Absence of the Vas Deferens. ( 27458088 )
2016
2
Congenital absence of the vas deferens and unilateral renal agenesis: implications for patient and family. ( 24879556 )
2014
3
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
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
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
10
[Congenital absence of the vas deferens]. ( 15562795 )
2004
11
Impaired spermatogenesis in men with congenital absence of the vas deferens. ( 11228224 )
2001
12
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. ( 10875853 )
2000
13
Mutations of the cystic fibrosis gene and congenital absence of the vas deferens. ( 10626298 )
2000
14
Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. ( 10653141 )
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
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
Micromanipulation improves in-vitro fertilization results after epididymal or testicular sperm aspiration in patients with congenital absence of the vas deferens. ( 8943520 )
1996
21
Congenital absence of the vas deferens: a mild form of cystic fibrosis. ( 8796848 )
1996
22
Urogenital anomalies in men with congenital absence of the vas deferens. ( 8627844 )
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

Expression for Congenital Absence of the Vas Deferens

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

Pathways for Congenital Absence of the Vas Deferens

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.46 CFTR EDNRA
2 11.08 CFTR TGFB1
3
Show member pathways
10.59 CFTR TGFB1

GO Terms for Congenital Absence of the Vas Deferens

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

id Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.26 EDNRA TGFB1
2 heart development GO:0007507 9.16 EDNRA TGFB1
3 response to hypoxia GO:0001666 8.96 EDNRA TGFB1
4 respiratory gaseous exchange GO:0007585 8.62 CFTR EDNRA

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

id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.62 CFTR TGFB1

Sources for Congenital Absence of the Vas Deferens

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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