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Vas Deferens, Congenital Bilateral Aplasia of (CBAVD)
Alias:
Congenital Bilateral Absence of Vas Deferens
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Cbavd
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Cavd
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Congenital Bilateral Agenesis of Vas Deferens
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Congenital Bilateral Aplasia of Vas Deferens
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Congenital Bilateral Absence of the Vas Deferens
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Congenital Bilateral Aplasia of Vas Deferens from Cftr Mutation
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Congenital Absence of Vas Deferens
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Congenital Aplasia of Vas Deferens
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Absence of Vas Deferens
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Absent Vas Deferens
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Absent Vasa
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital bilateral absence of the vas deferens (CBAVD) is a rare non-syndromic urogenital tract malformation characterized by improper development of the vas deferens, leading to male infertility. This condition is caused by mutations in the CFTR gene in 80% of cases. Men with CBAVD are unable to father children naturally due to the inability of sperm to be transported through the vas deferens. CBAVD may occur alone or as a manifestation of cystic fibrosis, a genetic disease affecting the mucus glands, leading to respiratory and digestive issues.
Related ID:
Basic Information
Inheritance | Age of Onset | Prevalence | Related Genes | Related Mouse Models | Reference | MALACARDS |
|---|---|---|---|---|---|---|
AR Autosomal recessive Ot Other | Adolescent | -- | 67 | 237 | 191 |
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed