Trait
Multiple enchondromatosis
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test10 genes linked to Multiple enchondromatosis
Changes in these genes cause rare conditions in which Multiple enchondromatosis 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 |
|---|---|---|
| MAD1L1mitotic arrest deficient 1 like 1 | Always | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Always | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Very often (80–99%) | In 3 conditions |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Very often (80–99%) | In 2 conditions |
| PTH1Rparathyroid hormone 1 receptor | Very often (80–99%) | In 1 condition |
| POLR1BRNA polymerase I subunit B | Sometimes (5–29%) | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Sometimes (5–29%) | In 1 condition |
| POLR1DRNA polymerase I and III subunit D | Sometimes (5–29%) | In 1 condition |
| TCOF1treacle ribosome biogenesis factor 1 | 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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