Trait
Mitral stenosis
An abnormal narrowing of the orifice of the mitral valve.
Summary
- Also called
- Mitral valve stenosis
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
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Get my Genome Test26 genes linked to Mitral stenosis
Changes in these genes cause rare conditions in which Mitral stenosis 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 |
|---|---|---|
| IDUAalpha-L-iduronidase | Always | In 1 condition |
| MCTP2multiple C2 and transmembrane domain containing 2 | Often (30–79%) | In 1 condition |
| ZIC3Zic family zinc finger 3 | Often (30–79%) | In 1 condition |
| ADAMTSL2ADAMTS like 2 | Sometimes (5–29%) | In 2 conditions |
| ARSBarylsulfatase B | Sometimes (5–29%) | In 1 condition |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 2 conditions |
| GBA1glucosylceramidase beta 1 | Sometimes (5–29%) | In 2 conditions |
| GJA1gap junction protein alpha 1 | Sometimes (5–29%) | In 1 condition |
| HGDhomogentisate 1,2-dioxygenase | Sometimes (5–29%) | In 1 condition |
| LMNAlamin A/C | Sometimes (5–29%) | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Sometimes (5–29%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Sometimes (5–29%) | In 1 condition |
| NOTCH1notch receptor 1 | Sometimes (5–29%) | In 1 condition |
| NOTCH2notch receptor 2 | Sometimes (5–29%) | In 1 condition |
| SYT2synaptotagmin 2 | Sometimes (5–29%) | In 1 condition |
| UBE2Aubiquitin conjugating enzyme E2 A | Sometimes (5–29%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Sometimes (5–29%) | In 1 condition |
| ZNF148zinc finger protein 148 | Sometimes (5–29%) | In 1 condition |
| ABCC6ATP binding cassette subfamily C member 6 | Rarely (1–4%) | In 1 condition |
| NF1neurofibromin 1 | Rarely (1–4%) | In 1 condition |
| XYLT1xylosyltransferase 1 | Rarely (1–4%) | In 1 condition |
| XYLT2xylosyltransferase 2 | Rarely (1–4%) | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 1 condition |
| HAAO3-hydroxyanthranilate 3,4-dioxygenase | Not recorded | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Not recorded | In 2 conditions |
| PLD1phospholipase D1 | 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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