Trait
Mitral valve prolapse
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Summary
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test126 genes linked to Mitral valve prolapse
Changes in these genes cause rare conditions in which Mitral valve prolapse 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 |
|---|---|---|
| AMOTL1angiomotin like 1 | Always | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Always | In 1 condition |
| EP300EP300 lysine acetyltransferase | Always | In 1 condition |
| FBN1fibrillin 1 | Always | In 7 conditions |
| FIBPFGF1 intracellular binding protein | Always | In 2 conditions |
| LZTR1leucine zipper like post translational regulator 1 | Always | In 2 conditions |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Always | In 1 condition |
| RPS6KC1ribosomal protein S6 kinase C1 | Always | In 1 condition |
| SF3B4splicing factor 3b subunit 4 | Always | In 1 condition |
| TBX5T-box transcription factor 5 | Always | In 1 condition |
| XYLT2xylosyltransferase 2 | Always | In 2 conditions |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Very often (80–99%) | In 1 condition |
| SH3PXD2BSH3 and PX domains 2B | Very often (80–99%) | In 2 conditions |
| AEBP1AE binding protein 1 | Often (30–79%) | In 2 conditions |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Often (30–79%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Often (30–79%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Often (30–79%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Often (30–79%) | In 2 conditions |
| COL3A1collagen type III alpha 1 chain | Often (30–79%) | In 2 conditions |
| 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 2 conditions |
| FBN2fibrillin 2 | Often (30–79%) | In 2 conditions |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Often (30–79%) | In 1 condition |
| FLNAfilamin A | Often (30–79%) | In 4 conditions |
| GALEUDP-galactose-4-epimerase | 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 |
| HCN4hyperpolarization activated cyclic nucleotide gated potassium channel 4 | Often (30–79%) | In 1 condition |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Often (30–79%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Often (30–79%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 2 conditions |
| LIMK1LIM domain kinase 1 | Often (30–79%) | In 1 condition |
| METTL27methyltransferase like 27 | Often (30–79%) | In 1 condition |
| MLXIPLMLX interacting protein like | Often (30–79%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Often (30–79%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 2 conditions |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Often (30–79%) | In 2 conditions |
Show 86 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| RFC2replication factor C subunit 2 | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 1 condition |
| SACSsacsin molecular chaperone | Often (30–79%) | In 1 condition |
| SKISKI proto-oncogene | Often (30–79%) | In 2 conditions |
| STX1Asyntaxin 1A | Often (30–79%) | In 1 condition |
| TBL2transducin beta like 2 | Often (30–79%) | In 1 condition |
| TMEM270transmembrane protein 270 | Often (30–79%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Often (30–79%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Often (30–79%) | In 1 condition |
| ABCC6ATP binding cassette subfamily C member 6 | Sometimes (5–29%) | In 3 conditions |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Sometimes (5–29%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 1 condition |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Sometimes (5–29%) | In 1 condition |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ANK1ankyrin 1 | Sometimes (5–29%) | In 1 condition |
| ATXN7L3ataxin 7 like 3 | Sometimes (5–29%) | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sometimes (5–29%) | In 1 condition |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 2 conditions |
| BGNbiglycan | Sometimes (5–29%) | In 1 condition |
| BICC1BicC family RNA binding protein 1 | Sometimes (5–29%) | In 1 condition |
| BRF1BRF1 general transcription factor IIIB subunit | Sometimes (5–29%) | In 2 conditions |
| CHST14carbohydrate sulfotransferase 14 | Sometimes (5–29%) | In 1 condition |
| CLIC2CLIC family member 2 | Sometimes (5–29%) | In 1 condition |
| COL1A2collagen type I alpha 2 chain | Sometimes (5–29%) | In 2 conditions |
| COX7Bcytochrome c oxidase subunit 7B | Sometimes (5–29%) | In 1 condition |
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Sometimes (5–29%) | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Sometimes (5–29%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| FMN2formin 2 | Sometimes (5–29%) | In 1 condition |
| FMR1fragile X messenger ribonucleoprotein 1 | Sometimes (5–29%) | In 2 conditions |
| GANABglucosidase II alpha subunit | Sometimes (5–29%) | In 1 condition |
| HCCSholocytochrome c synthase | Sometimes (5–29%) | In 1 condition |
| IFT140intraflagellar transport 140 | Sometimes (5–29%) | In 1 condition |
| IPO8importin 8 | 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 |
| MED12mediator complex subunit 12 | Sometimes (5–29%) | In 1 condition |
| MFAP5microfibril associated protein 5 | Sometimes (5–29%) | In 1 condition |
| MMP14matrix metallopeptidase 14 | Sometimes (5–29%) | In 1 condition |
| MMP2matrix metallopeptidase 2 | Sometimes (5–29%) | In 2 conditions |
| MYH7myosin heavy chain 7 | Sometimes (5–29%) | In 1 condition |
| MYPNmyopalladin | Sometimes (5–29%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Sometimes (5–29%) | In 1 condition |
| NEK8NIMA related kinase 8 | Sometimes (5–29%) | In 1 condition |
| NPR3natriuretic peptide receptor 3 | Sometimes (5–29%) | In 1 condition |
| PKD1polycystin 1, transient receptor potential channel interacting | Sometimes (5–29%) | In 2 conditions |
| PKD2polycystin 2, transient receptor potential cation channel | Sometimes (5–29%) | In 1 condition |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sometimes (5–29%) | In 1 condition |
| PRDM5PR/SET domain 5 | Sometimes (5–29%) | In 1 condition |
| PRG4proteoglycan 4 | Sometimes (5–29%) | In 1 condition |
| ROBO1roundabout guidance receptor 1 | Sometimes (5–29%) | In 1 condition |
| SELENONselenoprotein N | Sometimes (5–29%) | In 1 condition |
| SLC29A3solute carrier family 29 member 3 | Sometimes (5–29%) | In 1 condition |
| SMAD3SMAD family member 3 | Sometimes (5–29%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| TGFB2transforming growth factor beta 2 | 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 |
| TNXBtenascin XB | Sometimes (5–29%) | In 2 conditions |
| TPM2tropomyosin 2 | Sometimes (5–29%) | In 1 condition |
| TPM3tropomyosin 3 | Sometimes (5–29%) | In 1 condition |
| TTNtitin | Sometimes (5–29%) | In 1 condition |
| VPS13Bvacuolar protein sorting 13 homolog B | Sometimes (5–29%) | In 2 conditions |
| ZNF469zinc finger protein 469 | Sometimes (5–29%) | In 2 conditions |
| COL1A1collagen type I alpha 1 chain | Rarely (1–4%) | In 2 conditions |
| COL5A1collagen type V alpha 1 chain | Rarely (1–4%) | In 2 conditions |
| COL5A2collagen type V alpha 2 chain | Rarely (1–4%) | In 1 condition |
| HEXBhexosaminidase subunit beta | Rarely (1–4%) | In 1 condition |
| NF1neurofibromin 1 | Rarely (1–4%) | In 1 condition |
| SPRED1sprouty related EVH1 domain containing 1 | Rarely (1–4%) | In 1 condition |
| XYLT1xylosyltransferase 1 | Rarely (1–4%) | In 1 condition |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Not recorded | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Not recorded | In 1 condition |
| CBScystathionine beta-synthase | 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 |
| DZIP1DAZ interacting zinc finger protein 1 | Not recorded | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Not recorded | In 1 condition |
| PCGF2polycomb group ring finger 2 | Not recorded | In 1 condition |
| PLD1phospholipase D1 | Not recorded | In 1 condition |
| RPL5ribosomal protein L5 | Not recorded | In 1 condition |
| SLC6A6solute carrier family 6 member 6 | Not recorded | In 1 condition |
| VWFvon Willebrand factor | 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.
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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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