Trait
Abnormality of creatine metabolism
Clinical name: Abnormal circulating creatine concentration
Any deviation from the normal concentration of creatine in the blood circulation.
Summary
- Also called
- Creatine metabolism abnormal, Abnormal creatine level
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
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Get my Genome Test11 genes linked to Abnormality of creatine metabolism
Changes in these genes cause rare conditions in which Abnormality of creatine metabolism 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 |
|---|---|---|
| SLC6A8solute carrier family 6 member 8 | Very often (80–99%) | In 1 condition |
| ATMATM serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BMPR1Abone morphogenetic protein receptor type 1A | Sometimes (5–29%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| CHEK2checkpoint kinase 2 | Sometimes (5–29%) | In 1 condition |
| MUTYHmutY DNA glycosylase | Sometimes (5–29%) | In 1 condition |
| NPATnuclear protein, coactivator of histone transcription | Sometimes (5–29%) | In 1 condition |
| POLD1DNA polymerase delta 1, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| POLEDNA polymerase epsilon, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| RPS20ribosomal protein S20 | Sometimes (5–29%) | In 1 condition |
| SEMA4Asemaphorin 4A | 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.
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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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