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GENATLAS PHENOTYPE
last update : 7/06/2006
Symbol CBAVD
Location 7q31.2
Name congenital bilateral absence of the vas deferens
Other name(s) CFTR-related CBAVD
Corresponding gene CFTR
Other symbol(s) CAVD
Main clinical features
  • male infertility, azoospermia, absence of vas deferent
  • may occur in men without pulmonary or gastrointestinal manifestations of cystic fibrosis
    • Genetic determination autosomal recessive
    Related entries CF
    Function/system disorder congenital malformation
    Type disease
    Gene product
    Name CFTR, a membrane protein that function as a regulated chloride channel in epithelia
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     CBAVD usually results from the combination of one severe CF mutation on one chromosome with either a mild mutation or the 5T variant on the other chromosome
    Remark(s)
    Genotype/Phenotype correlations more than 95 percent of males with CF are azoospermic