Trait
Mitral atresia
A congenital defect with failure to open of the mitral valve orifice.
Summary
- Also called
- Mitral valve atresia
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
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Get my Genome Test16 genes linked to Mitral atresia
Changes in these genes cause rare conditions in which Mitral atresia 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 |
|---|---|---|
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| CCNQcyclin Q | Sometimes (5–29%) | In 1 condition |
| CIROZciliated left-right organizer protein containing ZP-N domains | Sometimes (5–29%) | In 1 condition |
| DAW1dynein assembly factor with WD repeats 1 | Sometimes (5–29%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Sometimes (5–29%) | In 1 condition |
| GNB2G protein subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| LRPPRCleucine rich pentatricopeptide repeat containing | Sometimes (5–29%) | In 1 condition |
| MCTP2multiple C2 and transmembrane domain containing 2 | Sometimes (5–29%) | In 1 condition |
| MMP21matrix metallopeptidase 21 | Sometimes (5–29%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Sometimes (5–29%) | In 2 conditions |
| NOTCH1notch receptor 1 | Sometimes (5–29%) | In 1 condition |
| PLXND1plexin D1 | Sometimes (5–29%) | In 1 condition |
| SMAD2SMAD family member 2 | Sometimes (5–29%) | In 1 condition |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sometimes (5–29%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Sometimes (5–29%) | In 1 condition |
| ZIC3Zic family zinc finger 3 | Sometimes (5–29%) | 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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