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Trait
Arteriovenous malformation
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.
Summary
- Body system
- Abnormality of the cardiovascular system
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/arteriovenous-malformation.json"
page <- fromJSON(url)
page$trait$nameArteriovenous malformationHP:0100026
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Get my Genome Test47 genes linked to Arteriovenous malformation
Changes in these genes cause rare conditions in which Arteriovenous malformation is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AKT1AKT serine/threonine kinase 1 | Very often (80–99%) | In 1 condition |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Very often (80–99%) | In 1 condition |
| GLMNglomulin, FKBP associated protein | Very often (80–99%) | In 1 condition |
| GNA11G protein subunit alpha 11 | Very often (80–99%) | In 1 condition |
| GNAQG protein subunit alpha q | Very often (80–99%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Very often (80–99%) | In 2 conditions |
| PTENphosphatase and tensin homolog | Very often (80–99%) | In 2 conditions |
| RASA1RAS p21 protein activator 1 | Very often (80–99%) | In 2 conditions |
| TEKTEK receptor tyrosine kinase | Very often (80–99%) | In 1 condition |
| ACVRL1activin A receptor like type 1 | Often (30–79%) | In 1 condition |
| CBScystathionine beta-synthase | Often (30–79%) | In 1 condition |
| ENGendoglin | Often (30–79%) | In 1 condition |
| GDF2growth differentiation factor 2 | Often (30–79%) | In 1 condition |
| SMAD4SMAD family member 4 | Often (30–79%) | In 1 condition |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Sometimes (5–29%) | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Sometimes (5–29%) | In 1 condition |
| BRCA1BRCA1 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BRIP1BRCA1 interacting DNA helicase 1 | Sometimes (5–29%) | In 1 condition |
| CCBE1collagen and calcium binding EGF domains 1 | Sometimes (5–29%) | In 1 condition |
| DLL4delta like canonical Notch ligand 4 | Sometimes (5–29%) | In 1 condition |
| DOCK6dedicator of cytokinesis 6 | Sometimes (5–29%) | In 1 condition |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Sometimes (5–29%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Sometimes (5–29%) | In 1 condition |
| FANCAFA complementation group A | Sometimes (5–29%) | In 1 condition |
| FANCBFA complementation group B | Sometimes (5–29%) | In 1 condition |
| FANCCFA complementation group C | Sometimes (5–29%) | In 1 condition |
| FANCD2FA complementation group D2 | Sometimes (5–29%) | In 1 condition |
| FANCEFA complementation group E | Sometimes (5–29%) | In 1 condition |
| FANCFFA complementation group F | Sometimes (5–29%) | In 1 condition |
| FANCGFA complementation group G | Sometimes (5–29%) | In 1 condition |
| FANCIFA complementation group I | Sometimes (5–29%) | In 1 condition |
| FANCLFA complementation group L | Sometimes (5–29%) | In 1 condition |
| FANCMFA complementation group M | Sometimes (5–29%) | In 1 condition |
| FAT4FAT atypical cadherin 4 | Sometimes (5–29%) | In 1 condition |
| GUSBglucuronidase beta | Sometimes (5–29%) | In 1 condition |
| MAD2L2mitotic arrest deficient 2 like 2 | Sometimes (5–29%) | In 1 condition |
| NOTCH1notch receptor 1 | Sometimes (5–29%) | In 1 condition |
| PALB2partner and localizer of BRCA2 | Sometimes (5–29%) | In 1 condition |
Show 7 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| RAD51RAD51 recombinase | Sometimes (5–29%) | In 1 condition |
| RAD51CRAD51 paralog C | Sometimes (5–29%) | In 1 condition |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Sometimes (5–29%) | In 1 condition |
| RFWD3ring finger and WD repeat domain 3 | Sometimes (5–29%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Sometimes (5–29%) | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Sometimes (5–29%) | In 1 condition |
| XRCC2X-ray repair cross complementing 2 | Sometimes (5–29%) | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
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