Trait
Enlarged thyroid gland in neck
Clinical name: Goiter
An enlargement of the thyroid gland.
Summary
- Also called
- Goitre, Thyroid goiter, Thyroid goitre
- 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 Test41 genes linked to Enlarged thyroid gland in neck
Changes in these genes cause rare conditions in which Enlarged thyroid gland in neck 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 |
|---|---|---|
| DNAH1dynein axonemal heavy chain 1 | Always | In 1 condition |
| TGthyroglobulin | Always | In 2 conditions |
| THRBthyroid hormone receptor beta | Always | In 3 conditions |
| TPOthyroid peroxidase | Always | In 2 conditions |
| TSHRthyroid stimulating hormone receptor | Always | In 4 conditions |
| CDH23cadherin related 23 | Very often (80–99%) | In 1 condition |
| FOXI1forkhead box I1 | Very often (80–99%) | In 2 conditions |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Very often (80–99%) | In 2 conditions |
| PTENphosphatase and tensin homolog | Very often (80–99%) | In 2 conditions |
| SLC26A4solute carrier family 26 member 4 | Very often (80–99%) | In 2 conditions |
| DUOX2dual oxidase 2 | Often (30–79%) | In 2 conditions |
| DUOXA2dual oxidase maturation factor 2 | Often (30–79%) | In 2 conditions |
| FOXE1forkhead box E1 | Often (30–79%) | In 2 conditions |
| HABP2hyaluronan binding protein 2 | Often (30–79%) | In 1 condition |
| IYDiodotyrosine deiodinase | Often (30–79%) | In 2 conditions |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Often (30–79%) | In 1 condition |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Often (30–79%) | In 1 condition |
| RCBTB1RCC1 and BTB domain containing protein 1 | Often (30–79%) | In 1 condition |
| SLC5A5solute carrier family 5 member 5 | Often (30–79%) | In 2 conditions |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Sometimes (5–29%) | In 1 condition |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Sometimes (5–29%) | In 1 condition |
| GNASGNAS complex locus | Sometimes (5–29%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Sometimes (5–29%) | In 1 condition |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Sometimes (5–29%) | In 1 condition |
| LEF1lymphoid enhancer binding factor 1 | Sometimes (5–29%) | In 1 condition |
| MEN1menin 1 | Sometimes (5–29%) | In 1 condition |
| SAA1serum amyloid A1 | Sometimes (5–29%) | In 1 condition |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Sometimes (5–29%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Rarely (1–4%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Rarely (1–4%) | In 1 condition |
| POLG2DNA polymerase gamma 2, accessory subunit | Rarely (1–4%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Rarely (1–4%) | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Rarely (1–4%) | In 1 condition |
| TSHBthyroid stimulating hormone subunit beta | Rarely (1–4%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Rarely (1–4%) | In 1 condition |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Not recorded | In 1 condition |
| DICER1dicer 1, ribonuclease III | Not recorded | In 1 condition |
| PAX8paired box 8 | Not recorded | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Not recorded | In 1 condition |
| SEC23BSEC23 homolog B, COPII component | Not recorded | In 1 condition |
Show 1 more gene
| Gene | How often it is seen | Conditions |
|---|---|---|
| TRHRthyrotropin releasing hormone receptor | 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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