Trait

Abnormality of vitamin D metabolism

Clinical name: Abnormal circulating vitamin D concentration

Concentration of vitamin D or a vitamin D metabolite in the blood circulation outside of normal limits.

HPO HP:0100511

Body system: Laboratory abnormality

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4 genes linked to Abnormality of vitamin D metabolism

Changes in these genes cause rare conditions in which Abnormality of vitamin D 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
CTNScystinosin, lysosomal cystine transporter	Very often (80–99%)	In 1 condition
DMP1dentin matrix acidic phosphoprotein 1	Very often (80–99%)	In 1 condition
ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1	Very often (80–99%)	In 1 condition
IARS1isoleucyl-tRNA synthetase 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.

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Broader traits

Abnormal circulating vitamin concentration

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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