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Trait
Aortic valve has two leaflets rather than three
Clinical name: Bicuspid aortic valve
The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).
Summary
- Body system
- Abnormality of the cardiovascular system
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Read the genes linked to Aortic valve has two leaflets rather than three, and the rest of your genome, with one test.
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Get my Genome Test126 genes linked to Aortic valve has two leaflets rather than three
Changes in these genes cause rare conditions in which Aortic valve has two leaflets rather than three 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 |
|---|---|---|
| ADA2adenosine deaminase 2 | Always | In 2 conditions |
| GATA5GATA binding protein 5 | Always | In 2 conditions |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Always | In 1 condition |
| NKX2-5NK2 homeobox 5 | Always | In 1 condition |
| NOTCH1notch receptor 1 | Always | In 2 conditions |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| ROBO4roundabout guidance receptor 4 | Always | In 2 conditions |
| RPL26ribosomal protein L26 | Always | In 1 condition |
| SMAD2SMAD family member 2 | Always | In 2 conditions |
| SMAD6SMAD family member 6 | Always | In 2 conditions |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Often (30–79%) | In 1 condition |
| KDM2Blysine demethylase 2B | Often (30–79%) | In 1 condition |
| LOXlysyl oxidase | Often (30–79%) | In 2 conditions |
| MCTP2multiple C2 and transmembrane domain containing 2 | Often (30–79%) | In 1 condition |
| NADSYN1NAD synthetase 1 | Often (30–79%) | In 1 condition |
| NXNnucleoredoxin | Often (30–79%) | In 1 condition |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Often (30–79%) | In 1 condition |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Often (30–79%) | In 1 condition |
| WDR83OSWD repeat domain 83 opposite strand | Often (30–79%) | In 1 condition |
| ZMYM3zinc finger MYM-type containing 3 | Often (30–79%) | In 1 condition |
| ACTA2actin alpha 2, smooth muscle | Sometimes (5–29%) | In 1 condition |
| ADAMTS19ADAM metallopeptidase with thrombospondin type 1 motif 19 | Sometimes (5–29%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Sometimes (5–29%) | In 1 condition |
| BCAS3BCAS3 microtubule associated cell migration factor | Sometimes (5–29%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| CAPN15calpain 15 | Sometimes (5–29%) | In 1 condition |
| CCNQcyclin Q | Sometimes (5–29%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| DOHHdeoxyhypusine hydroxylase | Sometimes (5–29%) | In 1 condition |
| DPF2double PHD fingers 2 | Sometimes (5–29%) | In 1 condition |
| EDNRAendothelin receptor type A | Sometimes (5–29%) | In 1 condition |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 3 conditions |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 3 conditions |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
Show 86 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| FLNAfilamin A | Sometimes (5–29%) | In 3 conditions |
| FOXE3forkhead box E3 | Sometimes (5–29%) | In 1 condition |
| FOXF1forkhead box F1 | Sometimes (5–29%) | In 2 conditions |
| GATA6GATA binding protein 6 | Sometimes (5–29%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Sometimes (5–29%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Sometimes (5–29%) | In 1 condition |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Sometimes (5–29%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sometimes (5–29%) | In 2 conditions |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| KDM6Alysine demethylase 6A | Sometimes (5–29%) | In 1 condition |
| KIF3Bkinesin family member 3B | Sometimes (5–29%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| LRPPRCleucine rich pentatricopeptide repeat containing | Sometimes (5–29%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Sometimes (5–29%) | In 1 condition |
| MAT2Amethionine adenosyltransferase 2A | Sometimes (5–29%) | In 1 condition |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| METTL27methyltransferase like 27 | 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 1 condition |
| MYH11myosin heavy chain 11 | Sometimes (5–29%) | In 2 conditions |
| MYH7myosin heavy chain 7 | Sometimes (5–29%) | In 1 condition |
| MYLKmyosin light chain kinase | Sometimes (5–29%) | In 1 condition |
| MYOCDmyocardin | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 2 conditions |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| NFE2L2NFE2 like bZIP transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| NOTCH3notch receptor 3 | Sometimes (5–29%) | In 1 condition |
| PACS1phosphofurin acidic cluster sorting protein 1 | Sometimes (5–29%) | In 2 conditions |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Sometimes (5–29%) | In 1 condition |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Sometimes (5–29%) | In 1 condition |
| PRKG1protein kinase cGMP-dependent 1 | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 1 condition |
| RAC1Rac family small GTPase 1 | Sometimes (5–29%) | In 2 conditions |
| RAI1retinoic acid induced 1 | Sometimes (5–29%) | In 1 condition |
| RAP1BRAP1B, member of RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| SCAF4SR-related CTD associated factor 4 | Sometimes (5–29%) | In 1 condition |
| SGO1shugoshin 1 | Sometimes (5–29%) | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Sometimes (5–29%) | In 1 condition |
| SMAD3SMAD family member 3 | Sometimes (5–29%) | In 2 conditions |
| SMAD4SMAD family member 4 | Sometimes (5–29%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 1 condition |
| SRYsex determining region Y | Sometimes (5–29%) | In 1 condition |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| TAF2TATA-box binding protein associated factor 2 | Sometimes (5–29%) | In 2 conditions |
| TBL2transducin beta like 2 | 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 1 condition |
| TGFBR1transforming growth factor beta receptor 1 | Sometimes (5–29%) | In 2 conditions |
| TGFBR2transforming growth factor beta receptor 2 | Sometimes (5–29%) | In 1 condition |
| THSD4thrombospondin type 1 domain containing 4 | Sometimes (5–29%) | In 2 conditions |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Sometimes (5–29%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Sometimes (5–29%) | In 1 condition |
| WT1WT1 transcription factor | Sometimes (5–29%) | In 1 condition |
| YY1AP1YY1 associated protein 1 | Sometimes (5–29%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 2 conditions |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| AGO2argonaute RISC catalytic component 2 | Rarely (1–4%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Rarely (1–4%) | In 2 conditions |
| EP300EP300 lysine acetyltransferase | 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 |
| H3-3AH3.3 histone A | Rarely (1–4%) | In 1 condition |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Rarely (1–4%) | In 1 condition |
| SKIC2SKI2 subunit of superkiller complex | Rarely (1–4%) | In 1 condition |
| SKIC3SKI3 subunit of superkiller complex | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ZNF462zinc finger protein 462 | Rarely (1–4%) | In 1 condition |
| ABCC9ATP binding cassette subfamily C member 9 | Not recorded | In 1 condition |
| ACTBactin beta | Not recorded | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Not recorded | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Not recorded | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Not recorded | In 1 condition |
| BCORBCL6 corepressor | Not recorded | In 1 condition |
| CBLCbl proto-oncogene | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 1 condition |
| FBN2fibrillin 2 | Not recorded | In 1 condition |
| IFT122intraflagellar transport 122 | Not recorded | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Not recorded | In 1 condition |
| MLXIPLMLX interacting protein like | Not recorded | In 1 condition |
| SNIP1Smad nuclear interacting protein 1 | 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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From $449Free shipping · Results in 6–8 weeks