MCID: CNG039
MIFTS: 24

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 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 congenital bilateral absence of vas deferens and cornelia de lange syndrome. 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 t cells, liver and lung, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

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
T cells, Liver, Lung

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:00053798.7CFTR, EDNRA, TGFB1
2MP:00053888.6CFTR, EDNRA, TGFB1
3MP:00053918.5CFTR, EDNRA, TGFB1
4MP:00053828.5CFTR, EDNRA, TGFB1
5MP:00053818.2CFTR, 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
Comparative Study of Direct Immunofluorescence in Discoid Lupus Erythematosus and Bullous Pemphigoid. (26067456)
2015
2
Suppressing the CDC37 cochaperone in hepatocellular carcinoma cells inhibits cell cycle progression and cell growth. (25098386)
2015
3
Clot resolution after 3A weeks of anticoagulant treatment for pulmonary embolism: comparison of computed tomography and perfusion scintigraphy. (23347140)
2013
4
The effect of hemiplegia/hemiparesis, diabetes mellitus, and hypertension on hospital length of stay after stroke. (21677617)
2011
5
GTP cyclohydrolase I expression, protein, and activity determine intracellular tetrahydrobiopterin levels, independent of GTP cyclohydrolase feedback regulatory protein expression. (19286659)
2009
6
Ribosomal protein L10 interacts with the SH3 domain and regulates GDNF-induced neurite growth in SH-SY-5y cells. (16741966)
2006
7
Molecular basis for the binding of competitive inhibitors of maize polyamine oxidase. (15035614)
2004
8
Integrin expression regulates neuroblastoma attachment and migration. (15256055)
2004
9
A conserved GXXXG motif in APH-1 is critical for assembly and activity of the gamma-secretase complex. (14627705)
2004
10
Human intestinal anisakiosis due to consumption of raw salmon. (12883252)
2003
11
Characterization of GIST/GIPACT tumors by inmunohistochemistry and exon 11 analysis of c-kit by PCR. (14588063)
2003
12
S antigen specific effector T cell activation detected by cytokine flow cytometry. (11973244)
2002
13
Molecular determinants for PICK1 synaptic aggregation and mGluR7a receptor coclustering: role of the PDZ, coiled-coil, and acidic domains. (11375398)
2001
14
The RING finger of c-Cbl mediates desensitization of the epidermal growth factor receptor. (10428778)
1999
15
Differential capacities of CD4+, CD8+, and CD4-CD8- T cell subsets to express IL-18 receptor and produce IFN-gamma in response to IL-18. (9558078)
1998
16
Abnormal development of biceps brachii phasic stretch reflex and persistence of short latency heteronymous reflexes from biceps to triceps brachii in spastic cerebral palsy. (9874488)
1998
17
Serum basic fibroblast growth factor in pediatric Crohn's disease. Implications for wound healing. (9052523)
1997
18
Lubrication of human and bovine enamel compared in an artificial mouth. (8670025)
1995
19
Thrombin and platelet inhibition with low-dose calcium-heparin in comparison with ASA in patients with peripheral arterial occlusive disease at Leriche-Fontaine IIb class. (7881702)
1994
20
Use of midazolam as a human cytochrome P450 3A probe: I. In vitro-in vivo correlations in liver transplant patients. (7965755)
1994
21
Corneal changes in Tay-Sachs disease. (2191759)
1990
22
Ulnar neuropathy at the elbow: comparison of simple decompression and anterior transposition. (7207750)
1980
23
Farmer's lung disease: long-term clinical and physiologic outcome. (434591)
1979

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
1response to organic cyclic compoundGO:00140709.1EDNRA, TGFB1
2agingGO:00075689.0EDNRA, TGFB1
3positive regulation of protein phosphorylationGO:00019348.8EDNRA, 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