Trait
Graves disease
An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.
Summary
- Also called
- Morbus Basedow
- 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 Test6 genes linked to Graves disease
Changes in these genes cause rare conditions in which Graves disease 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 |
|---|---|---|
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Very often (80–99%) | In 1 condition |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Very often (80–99%) | In 1 condition |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Very often (80–99%) | In 1 condition |
| AIREautoimmune regulator | Sometimes (5–29%) | In 1 condition |
| CLCNKBchloride voltage-gated channel Kb | Rarely (1–4%) | In 1 condition |
| SLC12A3solute carrier family 12 member 3 | Rarely (1–4%) | 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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