Trait
Mucopolysacchariduria
Excessive amounts of mucopolysaccharide in the urine.
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test7 genes linked to Mucopolysacchariduria
Changes in these genes cause rare conditions in which Mucopolysacchariduria 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 |
|---|---|---|
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Always | In 1 condition |
| FUCA1alpha-L-fucosidase 1 | Very often (80–99%) | In 1 condition |
| IDUAalpha-L-iduronidase | Very often (80–99%) | In 2 conditions |
| SUMF1sulfatase modifying factor 1 | Very often (80–99%) | In 2 conditions |
| GUSBglucuronidase beta | Often (30–79%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Often (30–79%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sometimes (5–29%) | In 2 conditions |
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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