Congenital arteriovenous fistula

Summary

Congenital arteriovenous fistula (MONDO:0020296) is a disease. A subtype of congenital anomaly of cardiovascular system — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital arteriovenous fistula
Mondo ID	MONDO:0020296
MeSH	D001164
Orphanet	98731
NCIT	C35377
SNOMED CT	234148007
UMLS	C0332965
MedGen	137676
GARD	0019560
MedDRA	10003226
Is cancer (heuristic)	no

Also known as: congenital arteriovenous shunt

Disease family

This is a subtype of congenital anomaly of cardiovascular system. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › congenital anomaly of cardiovascular system › congenital arteriovenous fistula

Related subtypes (4): venous hemangioma, congenital heart disease, congenital heart malformation, persistent fetal circulation syndrome

Subtypes (2): congenital systemic arteriovenous fistula, congenital intrahepatic arterioportal fistula

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.