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Trait
Abnormal heart valve morphology
Any structural abnormality of a cardiac valve.
Summary
- Also called
- Abnormality of the heart valves, Valvular abnormality
- Body system
- Abnormality of the cardiovascular system
Abnormal heart valve morphologyHP:0001654
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Read the genes linked to Abnormal heart valve morphology, and the rest of your genome, with one test.
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Get my Genome Test63 genes linked to Abnormal heart valve morphology
Changes in these genes cause rare conditions in which Abnormal heart valve morphology 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 |
|---|---|---|
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 1 condition |
| COL1A2collagen type I alpha 2 chain | Very often (80–99%) | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Very often (80–99%) | In 1 condition |
| EVCEvC ciliary complex subunit 1 | Very often (80–99%) | In 1 condition |
| EVC2EvC ciliary complex subunit 2 | Very often (80–99%) | In 1 condition |
| GLI1GLI family zinc finger 1 | Very often (80–99%) | In 1 condition |
| HLA-Bmajor histocompatibility complex, class I, B | Very often (80–99%) | In 1 condition |
| IDUAalpha-L-iduronidase | Very often (80–99%) | In 2 conditions |
| IL12Binterleukin 12B | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Very often (80–99%) | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Very often (80–99%) | In 1 condition |
| MLXMAX dimerization protein MLX | Very often (80–99%) | In 1 condition |
| PLXND1plexin D1 | Very often (80–99%) | In 1 condition |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Very often (80–99%) | In 1 condition |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Very often (80–99%) | In 1 condition |
| ARF1ARF GTPase 1 | Often (30–79%) | In 1 condition |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 1 condition |
| ERMARDER membrane associated RNA degradation | Often (30–79%) | In 1 condition |
| FLNAfilamin A | Often (30–79%) | In 2 conditions |
| HGDhomogentisate 1,2-dioxygenase | Often (30–79%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 1 condition |
| MAP1Bmicrotubule associated protein 1B | Often (30–79%) | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Often (30–79%) | In 1 condition |
| NELFAnegative elongation factor complex member A | Often (30–79%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Often (30–79%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 1 condition |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Often (30–79%) | In 1 condition |
| ABCC9ATP binding cassette subfamily C member 9 | Sometimes (5–29%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| BIN1bridging integrator 1 | Sometimes (5–29%) | In 1 condition |
| CASZ1castor zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Sometimes (5–29%) | In 1 condition |
| DNASE1L3deoxyribonuclease 1L3 | Sometimes (5–29%) | In 1 condition |
| DSEdermatan sulfate epimerase | Sometimes (5–29%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sometimes (5–29%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Sometimes (5–29%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
Show 23 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Sometimes (5–29%) | In 1 condition |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Sometimes (5–29%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Sometimes (5–29%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Sometimes (5–29%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Sometimes (5–29%) | In 1 condition |
| PDPNpodoplanin | Sometimes (5–29%) | In 1 condition |
| PRDM16PR/SET domain 16 | Sometimes (5–29%) | In 1 condition |
| PRKCSHPRKCSH beta subunit of glucosidase II | Sometimes (5–29%) | In 1 condition |
| PRKCZprotein kinase C zeta | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| RYR1ryanodine receptor 1 | Sometimes (5–29%) | In 1 condition |
| SEC63SEC63 protein translocation regulator | Sometimes (5–29%) | In 1 condition |
| SKISKI proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SPEGstriated muscle enriched protein kinase | Sometimes (5–29%) | In 1 condition |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| TNXBtenascin XB | Sometimes (5–29%) | In 1 condition |
| TTNtitin | Sometimes (5–29%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Sometimes (5–29%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Rarely (1–4%) | In 1 condition |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Not recorded | In 1 condition |
| GLB1galactosidase beta 1 | Not recorded | In 1 condition |
| GUSBglucuronidase beta | Not recorded | In 1 condition |
| IDSiduronate 2-sulfatase | 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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