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Trait
Mitral regurgitation
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Summary
- Also called
- Mitral incompetence, Mitral insufficiency, Mitral valve insufficiency, Mitral valve regurgitation
- 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/mitral-regurgitation.json"
page <- fromJSON(url)
page$trait$nameMitral regurgitationHP:0001653
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Get my Genome Test182 genes linked to Mitral regurgitation
Changes in these genes cause rare conditions in which Mitral 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Always | In 1 condition |
| ARHGAP19Rho GTPase activating protein 19 | Always | In 1 condition |
| CRYABcrystallin alpha B | Always | In 1 condition |
| EXOSC5exosome component 5 | Always | In 1 condition |
| FBN1fibrillin 1 | Always | In 7 conditions |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Always | In 2 conditions |
| HEPHL1hephaestin like 1 | Always | In 1 condition |
| IL6STinterleukin 6 cytokine family signal transducer | Always | In 1 condition |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| LDB3LIM domain binding 3 | Always | In 1 condition |
| LMNAlamin A/C | Always | In 3 conditions |
| LMOD2leiomodin 2 | Always | In 1 condition |
| NRAPnebulin related anchoring protein | Always | In 1 condition |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Always | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Always | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Always | In 1 condition |
| TBX5T-box transcription factor 5 | Always | In 1 condition |
| ARSBarylsulfatase B | Very often (80–99%) | In 1 condition |
| COL1A2collagen type I alpha 2 chain | Very often (80–99%) | In 2 conditions |
| FLNAfilamin A | Very often (80–99%) | In 3 conditions |
| IDUAalpha-L-iduronidase | Very often (80–99%) | In 2 conditions |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Very often (80–99%) | In 2 conditions |
| ABCC6ATP binding cassette subfamily C member 6 | Often (30–79%) | In 1 condition |
| ADA2adenosine deaminase 2 | Often (30–79%) | In 1 condition |
| AKT3AKT serine/threonine kinase 3 | Often (30–79%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Often (30–79%) | In 2 conditions |
| BAG3BAG cochaperone 3 | Often (30–79%) | In 1 condition |
| BANF1barrier to autointegration nuclear assembly factor 1 | Often (30–79%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Often (30–79%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Often (30–79%) | In 1 condition |
| CCND2cyclin D2 | Often (30–79%) | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Often (30–79%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Often (30–79%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Often (30–79%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 4 conditions |
| FBLN5fibulin 5 | Often (30–79%) | In 2 conditions |
| FHL1four and a half LIM domains 1 | Often (30–79%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Often (30–79%) | In 1 condition |
Show 142 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| GBA1glucosylceramidase beta 1 | Often (30–79%) | In 2 conditions |
| GLAgalactosidase alpha | Often (30–79%) | In 1 condition |
| GLB1galactosidase beta 1 | Often (30–79%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Often (30–79%) | In 3 conditions |
| GNSglucosamine (N-acetyl)-6-sulfatase | Often (30–79%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Often (30–79%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Often (30–79%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Often (30–79%) | In 1 condition |
| KLHL24kelch like family member 24 | Often (30–79%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Often (30–79%) | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Often (30–79%) | In 2 conditions |
| METTL27methyltransferase like 27 | Often (30–79%) | In 1 condition |
| MLXIPLMLX interacting protein like | Often (30–79%) | In 1 condition |
| MYL2myosin light chain 2 | Often (30–79%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Often (30–79%) | In 1 condition |
| NEXNnexilin F-actin binding protein | Often (30–79%) | In 1 condition |
| NKAPNFKB activating protein | Often (30–79%) | In 1 condition |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Often (30–79%) | In 2 conditions |
| PKD1polycystin 1, transient receptor potential channel interacting | Often (30–79%) | In 1 condition |
| PLD1phospholipase D1 | Often (30–79%) | In 1 condition |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Often (30–79%) | In 1 condition |
| PRDM16PR/SET domain 16 | Often (30–79%) | In 1 condition |
| RFC2replication factor C subunit 2 | Often (30–79%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Often (30–79%) | In 1 condition |
| RPL3Lribosomal protein L3 like | Often (30–79%) | In 1 condition |
| SKISKI proto-oncogene | Often (30–79%) | In 1 condition |
| SMAD3SMAD family member 3 | Often (30–79%) | In 3 conditions |
| SPEGstriated muscle enriched protein kinase | Often (30–79%) | In 1 condition |
| STX1Asyntaxin 1A | Often (30–79%) | In 1 condition |
| TBL2transducin beta like 2 | Often (30–79%) | In 1 condition |
| THSD1thrombospondin type 1 domain containing 1 | Often (30–79%) | In 1 condition |
| TLL1tolloid like 1 | Often (30–79%) | In 2 conditions |
| TLR7toll like receptor 7 | Often (30–79%) | In 1 condition |
| TMEM270transmembrane protein 270 | Often (30–79%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Often (30–79%) | In 1 condition |
| ABCG5ATP binding cassette subfamily G member 5 | Sometimes (5–29%) | In 1 condition |
| ABCG8ATP binding cassette subfamily G member 8 | Sometimes (5–29%) | In 1 condition |
| ACTC1actin alpha cardiac muscle 1 | Sometimes (5–29%) | In 1 condition |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Sometimes (5–29%) | In 2 conditions |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Sometimes (5–29%) | In 1 condition |
| ADAMTSL2ADAMTS like 2 | Sometimes (5–29%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Sometimes (5–29%) | In 1 condition |
| AIPAHR interacting HSP90 co-chaperone | Sometimes (5–29%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Sometimes (5–29%) | In 1 condition |
| APOBapolipoprotein B | Sometimes (5–29%) | In 1 condition |
| BCL11ABCL11 transcription factor A | 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 |
| CCR1C-C motif chemokine receptor 1 | Sometimes (5–29%) | In 1 condition |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Sometimes (5–29%) | In 1 condition |
| CLIC2CLIC family member 2 | Sometimes (5–29%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Sometimes (5–29%) | In 1 condition |
| CTCFCCCTC-binding factor | Sometimes (5–29%) | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Sometimes (5–29%) | In 2 conditions |
| DOHHdeoxyhypusine hydroxylase | Sometimes (5–29%) | In 1 condition |
| DSTdystonin | 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 |
| FKBP14FKBP prolyl isomerase 14 | Sometimes (5–29%) | In 1 condition |
| FLNCfilamin C | Sometimes (5–29%) | In 2 conditions |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Sometimes (5–29%) | In 1 condition |
| GATA4GATA binding protein 4 | Sometimes (5–29%) | In 2 conditions |
| GATA6GATA binding protein 6 | Sometimes (5–29%) | In 1 condition |
| GPR101G protein-coupled receptor 101 | Sometimes (5–29%) | In 1 condition |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Sometimes (5–29%) | In 1 condition |
| HCCSholocytochrome c synthase | Sometimes (5–29%) | In 1 condition |
| HEXBhexosaminidase subunit beta | Sometimes (5–29%) | In 1 condition |
| HGDhomogentisate 1,2-dioxygenase | Sometimes (5–29%) | In 1 condition |
| HLA-Bmajor histocompatibility complex, class I, B | Sometimes (5–29%) | In 1 condition |
| IFNGR1interferon gamma receptor 1 | 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 |
| IL23Rinterleukin 23 receptor | Sometimes (5–29%) | In 1 condition |
| IPO8importin 8 | Sometimes (5–29%) | In 1 condition |
| IRX5iroquois homeobox 5 | Sometimes (5–29%) | In 1 condition |
| KDM2Blysine demethylase 2B | Sometimes (5–29%) | In 1 condition |
| KIF20Akinesin family member 20A | Sometimes (5–29%) | In 1 condition |
| KLRC4killer cell lectin like receptor C4 | Sometimes (5–29%) | In 1 condition |
| LDLRlow density lipoprotein receptor | Sometimes (5–29%) | In 1 condition |
| LDLRAP1low density lipoprotein receptor adaptor protein 1 | Sometimes (5–29%) | In 1 condition |
| LOXlysyl oxidase | Sometimes (5–29%) | In 1 condition |
| LRPPRCleucine rich pentatricopeptide repeat containing | Sometimes (5–29%) | In 1 condition |
| LTBP2latent transforming growth factor beta binding protein 2 | Sometimes (5–29%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Sometimes (5–29%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Sometimes (5–29%) | In 1 condition |
| MAPK1mitogen-activated protein kinase 1 | Sometimes (5–29%) | In 1 condition |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| MEFVMEFV innate immunity regulator, pyrin | Sometimes (5–29%) | In 1 condition |
| MTX2metaxin 2 | Sometimes (5–29%) | In 1 condition |
| MYH6myosin heavy chain 6 | Sometimes (5–29%) | In 1 condition |
| MYH7myosin heavy chain 7 | Sometimes (5–29%) | In 1 condition |
| MYPNmyopalladin | Sometimes (5–29%) | In 2 conditions |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Sometimes (5–29%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Sometimes (5–29%) | In 2 conditions |
| NSD1nuclear receptor binding SET domain protein 1 | Sometimes (5–29%) | In 1 condition |
| PCSK9proprotein convertase subtilisin/kexin type 9 | Sometimes (5–29%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Sometimes (5–29%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Sometimes (5–29%) | In 2 conditions |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| PRG4proteoglycan 4 | Sometimes (5–29%) | In 1 condition |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Sometimes (5–29%) | In 1 condition |
| RELREL proto-oncogene, NF-kB subunit | Sometimes (5–29%) | In 1 condition |
| RSPRY1ring finger and SPRY domain containing 1 | Sometimes (5–29%) | In 1 condition |
| SGO1shugoshin 1 | Sometimes (5–29%) | In 1 condition |
| SLC22A5solute carrier family 22 member 5 | Sometimes (5–29%) | In 1 condition |
| SMAD2SMAD family member 2 | Sometimes (5–29%) | In 1 condition |
| SMAD6SMAD family member 6 | Sometimes (5–29%) | In 1 condition |
| SOX5SRY-box transcription factor 5 | Sometimes (5–29%) | In 1 condition |
| STAT4signal transducer and activator of transcription 4 | Sometimes (5–29%) | In 1 condition |
| TBX20T-box transcription factor 20 | Sometimes (5–29%) | In 1 condition |
| TGFB2transforming growth factor beta 2 | Sometimes (5–29%) | In 2 conditions |
| TGFB3transforming growth factor beta 3 | Sometimes (5–29%) | In 2 conditions |
| TGFBR1transforming growth factor beta receptor 1 | Sometimes (5–29%) | In 1 condition |
| TGFBR2transforming growth factor beta receptor 2 | Sometimes (5–29%) | In 1 condition |
| TLR4toll like receptor 4 | Sometimes (5–29%) | In 1 condition |
| TNNI3troponin I3, cardiac type | Sometimes (5–29%) | In 1 condition |
| TNNT2troponin T2, cardiac type | Sometimes (5–29%) | In 1 condition |
| TPM1tropomyosin 1 | Sometimes (5–29%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Sometimes (5–29%) | In 1 condition |
| TXNDC15thioredoxin domain containing 15 | Sometimes (5–29%) | In 1 condition |
| UBAC2UBA domain containing 2 | Sometimes (5–29%) | In 1 condition |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Sometimes (5–29%) | In 1 condition |
| WBP4WW domain binding protein 4 | Sometimes (5–29%) | In 1 condition |
| XPO1exportin 1 | Sometimes (5–29%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Sometimes (5–29%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Rarely (1–4%) | In 1 condition |
| COL5A1collagen type V alpha 1 chain | Rarely (1–4%) | In 1 condition |
| COL5A2collagen type V alpha 2 chain | Rarely (1–4%) | In 1 condition |
| NF1neurofibromin 1 | Rarely (1–4%) | In 1 condition |
| AGAaspartylglucosaminidase | Not recorded | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Not recorded | In 1 condition |
| CBLCbl proto-oncogene | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 1 condition |
| DCHS1dachsous cadherin-related 1 | Not recorded | In 1 condition |
| DSEdermatan sulfate epimerase | Not recorded | In 1 condition |
| DTNAdystrobrevin alpha | Not recorded | In 1 condition |
| DZIP1DAZ interacting zinc finger protein 1 | Not recorded | In 1 condition |
| FBN2fibrillin 2 | Not recorded | In 1 condition |
| RPL5ribosomal protein L5 | Not recorded | In 1 condition |
| RPS6KA3ribosomal protein S6 kinase A3 | 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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