Disorder "Congenital Bilateral Absence Of Vas Deferens"
Found 1 record
Disorder information
Disorder name:
Congenital Bilateral Absence Of Vas Deferens
Disoder ID:
OMIM entry:
Synonyms:
Congenital bilateral agenesis of vas deferens, Congenital bilateral aplasia of vas deferens
Definition:
Congenital absence of the vas deferens (CAVD) is a condition in which the vasa deferentia reproductive organs, fail to form properly prior to birth. It may either be unilateral (CUAVD) or bilateral (CBAVD).
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
EDNRA | EDNRA:c.*70G>C | Penetrance | Altered incidence | Assessment of genotype–phenotype associations | Polymorphism rs 5335 may be associated with congenital bilateral absencemore | more |
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