Details of Disease | DrugMAP

General Information of Disease (ID: DISR15UU)

Disease Name	Congenital bilateral absence of vas deferens
Synonyms	congenital bilateral agenesis of vas deferens; congenital bilateral aplasia of vas deferens
Definition	Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISOEQW8: Male reproductive system disorder DISYKSRF: Genetic disease DISR15UU: Congenital bilateral absence of vas deferens
Disease Identifiers	MONDO ID MONDO_0018801 UMLS CUI C1865433 MedGen ID 400764 Orphanet ID 48

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CFTR	TTRLZHP	Strong	CausalMutation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CFTR	DTEJNUG	Supportive	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADGRG2	OTPAD5S1	Supportive	Autosomal recessive	[3]
CFTR	OT6B22QH	Supportive	Autosomal recessive	[2]
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References

1	What can the CF registry tell us about rare CFTR-mutations? A Belgian study.Orphanet J Rare Dis. 2017 Aug 22;12(1):142. doi: 10.1186/s13023-017-0694-1.
2	Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. Clin Chem. 1995 Jun;41(6 Pt 1):833-5.
3	Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. Am J Hum Genet. 2016 Aug 4;99(2):437-42. doi: 10.1016/j.ajhg.2016.06.012. Epub 2016 Jul 28.