Trait
Aortic regurgitation
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
Summary
- Also called
- Aortic insufficiency, Aortic valve regurgitation
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Aortic regurgitation, and the rest of your genome, with one test.
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Get my Genome Test112 genes linked to Aortic regurgitation
Changes in these genes cause rare conditions in which Aortic regurgitation 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 |
|---|---|---|
| CEP57centrosomal protein 57 | Always | In 2 conditions |
| COA6cytochrome c oxidase assembly factor 6 | Always | In 1 condition |
| LMOD2leiomodin 2 | Always | In 1 condition |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Always | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| SONSON DNA and RNA binding protein | Always | In 1 condition |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Always | In 1 condition |
| FLNAfilamin A | Very often (80–99%) | In 3 conditions |
| GATA5GATA binding protein 5 | Very often (80–99%) | In 1 condition |
| IDUAalpha-L-iduronidase | Very often (80–99%) | In 4 conditions |
| NKX2-5NK2 homeobox 5 | Very often (80–99%) | In 1 condition |
| NOTCH1notch receptor 1 | Very often (80–99%) | In 1 condition |
| ROBO4roundabout guidance receptor 4 | Very often (80–99%) | In 1 condition |
| SMAD6SMAD family member 6 | Very often (80–99%) | In 2 conditions |
| ACTA2actin alpha 2, smooth muscle | Often (30–79%) | In 1 condition |
| ADA2adenosine deaminase 2 | Often (30–79%) | In 1 condition |
| ADAMTS19ADAM metallopeptidase with thrombospondin type 1 motif 19 | Often (30–79%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Often (30–79%) | In 2 conditions |
| ARF1ARF GTPase 1 | Often (30–79%) | In 1 condition |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Often (30–79%) | In 1 condition |
| ARSKarylsulfatase family member K | Often (30–79%) | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Often (30–79%) | In 1 condition |
| COL1A2collagen type I alpha 2 chain | Often (30–79%) | In 2 conditions |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 3 conditions |
| EMILIN1elastin microfibril interfacer 1 | Often (30–79%) | In 1 condition |
| ERMARDER membrane associated RNA degradation | Often (30–79%) | In 1 condition |
| FBLN5fibulin 5 | Often (30–79%) | In 2 conditions |
| FBN1fibrillin 1 | Often (30–79%) | In 2 conditions |
| FOXE3forkhead box E3 | Often (30–79%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Often (30–79%) | In 4 conditions |
| HEATR3HEAT repeat containing 3 | Often (30–79%) | In 1 condition |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Often (30–79%) | In 1 condition |
| LOXlysyl oxidase | Often (30–79%) | In 1 condition |
| MAP1Bmicrotubule associated protein 1B | Often (30–79%) | In 1 condition |
| MAT2Amethionine adenosyltransferase 2A | Often (30–79%) | In 1 condition |
| MFAP5microfibril associated protein 5 | Often (30–79%) | In 1 condition |
| MYH11myosin heavy chain 11 | Often (30–79%) | In 3 conditions |
| MYLKmyosin light chain kinase | Often (30–79%) | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Often (30–79%) | In 1 condition |
Show 72 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PLXND1plexin D1 | Often (30–79%) | In 1 condition |
| PRKG1protein kinase cGMP-dependent 1 | Often (30–79%) | In 1 condition |
| SMAD2SMAD family member 2 | Often (30–79%) | In 1 condition |
| SMAD3SMAD family member 3 | Often (30–79%) | In 3 conditions |
| SMAD4SMAD family member 4 | Often (30–79%) | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Often (30–79%) | In 1 condition |
| TGFB2transforming growth factor beta 2 | Often (30–79%) | In 1 condition |
| TGFB3transforming growth factor beta 3 | Often (30–79%) | In 1 condition |
| TGFBR1transforming growth factor beta receptor 1 | Often (30–79%) | In 1 condition |
| TGFBR2transforming growth factor beta receptor 2 | Often (30–79%) | In 1 condition |
| THSD4thrombospondin type 1 domain containing 4 | Often (30–79%) | In 2 conditions |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Often (30–79%) | In 1 condition |
| YY1AP1YY1 associated protein 1 | Often (30–79%) | In 1 condition |
| BCL11ABCL11 transcription factor A | Sometimes (5–29%) | In 1 condition |
| BCRBCR activator of RhoGEF and GTPase | Sometimes (5–29%) | In 1 condition |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Sometimes (5–29%) | In 1 condition |
| BUB3BUB3 mitotic checkpoint protein | Sometimes (5–29%) | In 1 condition |
| BUD13BUD13 spliceosome associated protein | Sometimes (5–29%) | In 1 condition |
| C4Acomplement C4A (Chido/Rodgers blood group) | Sometimes (5–29%) | In 1 condition |
| CCNQcyclin Q | Sometimes (5–29%) | In 1 condition |
| CCR1C-C motif chemokine receptor 1 | Sometimes (5–29%) | In 1 condition |
| CRKLCRK like proto-oncogene, adaptor protein | Sometimes (5–29%) | In 1 condition |
| DOHHdeoxyhypusine hydroxylase | Sometimes (5–29%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Sometimes (5–29%) | In 1 condition |
| FASFas cell surface death receptor | Sometimes (5–29%) | In 1 condition |
| HCN4hyperpolarization activated cyclic nucleotide gated potassium channel 4 | Sometimes (5–29%) | In 1 condition |
| HLA-Bmajor histocompatibility complex, class I, B | Sometimes (5–29%) | In 4 conditions |
| HYAL2hyaluronidase 2 | Sometimes (5–29%) | In 1 condition |
| IFNGR1interferon gamma receptor 1 | Sometimes (5–29%) | In 1 condition |
| IFT56intraflagellar transport 56 | Sometimes (5–29%) | In 1 condition |
| IL10interleukin 10 | Sometimes (5–29%) | In 1 condition |
| IL12Ainterleukin 12A | Sometimes (5–29%) | In 1 condition |
| IL12A-AS1IL12A antisense RNA 1 | Sometimes (5–29%) | In 1 condition |
| IL12Binterleukin 12B | Sometimes (5–29%) | In 1 condition |
| IL23Rinterleukin 23 receptor | Sometimes (5–29%) | In 1 condition |
| KIFBPkinesin family binding protein | Sometimes (5–29%) | In 1 condition |
| KLRC4killer cell lectin like receptor C4 | Sometimes (5–29%) | In 1 condition |
| LMNAlamin A/C | Sometimes (5–29%) | In 1 condition |
| MAPK1mitogen-activated protein kinase 1 | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| MEFVMEFV innate immunity regulator, pyrin | Sometimes (5–29%) | In 1 condition |
| MLXMAX dimerization protein MLX | Sometimes (5–29%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Sometimes (5–29%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 1 condition |
| RELREL proto-oncogene, NF-kB subunit | Sometimes (5–29%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sometimes (5–29%) | In 1 condition |
| SKIC3SKI3 subunit of superkiller complex | Sometimes (5–29%) | In 2 conditions |
| SPRED2sprouty related EVH1 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| STAT4signal transducer and activator of transcription 4 | Sometimes (5–29%) | In 1 condition |
| TLR4toll like receptor 4 | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| UBAC2UBA domain containing 2 | Sometimes (5–29%) | In 1 condition |
| XPO1exportin 1 | Sometimes (5–29%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Sometimes (5–29%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Rarely (1–4%) | In 2 conditions |
| GATA4GATA binding protein 4 | Rarely (1–4%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Rarely (1–4%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Rarely (1–4%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Rarely (1–4%) | In 2 conditions |
| SKIC2SKI2 subunit of superkiller complex | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Not recorded | In 1 condition |
| C12orf57chromosome 12 open reading frame 57 | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 1 condition |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Not recorded | In 1 condition |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Not recorded | In 1 condition |
| PCGF2polycomb group ring finger 2 | Not recorded | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Not recorded | In 1 condition |
| SLC35A1solute carrier family 35 member A1 | Not recorded | 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.
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 2026.10.16-c6eea6bf.
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