Trait
Elevated blood parathyroid hormone level
Clinical name: Hyperparathyroidism
Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
Summary
- Body system
- Abnormality of the endocrine system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test17 genes linked to Elevated blood parathyroid hormone level
Changes in these genes cause rare conditions in which Elevated blood parathyroid hormone level 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 |
|---|---|---|
| CDKN1Bcyclin dependent kinase inhibitor 1B | Always | In 2 conditions |
| CLDN10claudin 10 | Always | In 1 condition |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Always | In 1 condition |
| SLC4A2solute carrier family 4 member 2 | Always | In 1 condition |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Always | In 1 condition |
| RETret proto-oncogene | Very often (80–99%) | In 1 condition |
| VDRvitamin D receptor | Very often (80–99%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Often (30–79%) | In 1 condition |
| ACTG2actin gamma 2, smooth muscle | Sometimes (5–29%) | In 1 condition |
| FOXI1forkhead box I1 | Sometimes (5–29%) | In 1 condition |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Sometimes (5–29%) | In 1 condition |
| SLC12A1solute carrier family 12 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC26A4solute carrier family 26 member 4 | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| CASRcalcium sensing receptor | Not recorded | In 1 condition |
| CDC73cell division cycle 73 | Not recorded | In 2 conditions |
| GNASGNAS complex locus | 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.
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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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