Toxic multinodular goitre
disease diseaseOn this page
Also known as MNGPlummer diseasePlummer's diseaseTMNGToxic goiterToxic goitretoxic nodular goitertoxic nodular goitre
Summary
Toxic multinodular goitre (MONDO:0001252) is a disease with 59 GWAS associations across 7 studies and 3 clinical trials. Top therapeutic interventions include methimazole. A subtype of primary hyperthyroidism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 59
- Clinical trials: 3
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | toxic multinodular goitre |
| Mondo ID | MONDO:0001252 |
| EFO | EFO:0009191 |
| DOID | DOID:11277 |
| ICD-11 | 999910988 |
| NCIT | C35171 |
| SNOMED CT | 57777000 |
| UMLS | C0342127 |
| MedGen | 137963 |
| Is cancer (heuristic) | no |
Also known as: MNG · Plummer disease · Plummer’s disease · TMNG · Toxic goiter · Toxic goitre · toxic nodular goiter · toxic nodular goitre
Data availability: 59 GWAS associations (7 studies).
Disease family
Classification path: disease › human disease › disease by body system or component › endocrine system disorder › thyroid gland disorder › hyperthyroidism › primary hyperthyroidism › toxic multinodular goitre
Related subtypes (2): Graves disease, toxic thyroid adenoma
Genetics & variants
GWAS landscape
59 GWAS associations across 7 studies. Top hits map to 22 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs73398264 | 3e-108 | FAM227B | T | 0.26 |
| rs1203930 | 1e-86 | LNCNEF - LINC01747 | A | 0.23 |
| rs17477923 | 2e-81 | FAM227B | T | 0.25 |
| rs9971770 | 1e-65 | MSRB3-AS1 | ? | |
| rs10917469 | 3e-47 | MICOS10 | A | 0.19 |
| rs334700 | 6e-44 | NFIA | A | 0.26 |
| rs12461206 | 7e-41 | INSR | A | 0.19 |
| rs73575086 | 4e-37 | MAFTRR, LINC01229 | T | 0.14 |
| rs12431502 | 2e-36 | ITPK1 | G | 0.2 |
| rs66760320 | 1e-31 | SCIRT | C | 0.13 |
| rs116909374 | 1e-31 | LINC00609 - MBIP | C | 0.39 |
| rs142698837 | 3e-31 | TG | G | 1.16 |
| chr14:93585331 | 4e-31 | G | 0.18 | |
| rs3758723 | 3e-30 | PRDM11 | T | 0.13 |
| rs4338740 | 4e-29 | FGF7, FAM227B | T | 0.3 |
| chr8:133883671 | 7e-29 | C | 0.43 | |
| rs10799824 | 2e-28 | MICOS10 | G | 0.25 |
| chr11:45237858 | 5e-28 | T | 0.14 | |
| chr1:61619056 | 6e-27 | C | 0.28 | |
| rs4578973 | 2e-24 | LINC00887 | C | 0.13 |
| rs1203925 | 5e-21 | LNCNEF - LINC01747 | G | 0.19 |
| chr1:218652990 | 7e-21 | A | 0.12 | |
| rs555310482 | 8e-21 | LINC01603 | C | 0.1 |
| rs73575085 | 3e-20 | LINC01229, MAFTRR | G | 0.2 |
| rs675763 | 2e-18 | LINC02869 | A | 0.1 |
| rs925488 | 2e-17 | PTCSC2 | G | 0.23 |
| chr20:55894299 | 8e-17 | T | 0.17 | |
| chr12:66044284 | 1e-16 | G | 0.18 | |
| rs7207781 | 4e-16 | BCAS3 | A | 0.15 |
| rs6085657 | 1e-14 | CASC20 - LINC01713 | A | 0.1 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90475638 | Verma A | 2024 | 15,286 | 431,005 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651136 | Liu TY | 2025 | 7,924 | 212,391 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90475637 | Verma A | 2024 | 5,733 | 114,463 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479862 | Verma A | 2024 | 5,733 | 114,463 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90475636 | Verma A | 2024 | 1,420 | 57,947 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435685 | Zhou W | 2018 | 1,143 | 391,429 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90435686 | Zhou W | 2018 | 472 | 391,429 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 46 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 44 |
| low_freq (0.01-0.05) | 2 |
| rare (<0.01) | 1 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 26 |
| unknown | 15 |
| intergenic_variant | 3 |
| non_coding_transcript_exon_variant | 2 |
| missense_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs73398264 | 15 | 49414220 | T>C | 0.22 | intron_variant | FAM227B | 3e-108 | Tier 4: intronic/intergenic |
| rs1203930 | 20 | 22610197 | A>G,T | 0.292 | intergenic_variant | LNCNEF - LINC01747 | 1e-86 | Tier 4: intronic/intergenic |
| rs17477923 | 15 | 49418988 | T>C | 0.248 | intron_variant | FAM227B | 2e-81 | Tier 4: intronic/intergenic |
| rs9971770 | 12 | 65639270 | G>A,C,T | 0.05 | intron_variant | MSRB3-AS1 | 1e-65 | Tier 4: intronic/intergenic |
| rs10917469 | 1 | 19517082 | A>G,T | 0.167 | intron_variant | MICOS10 | 3e-47 | Tier 4: intronic/intergenic |
| rs334700 | 1 | 61153791 | A>C,G,T | 0.085 | intron_variant | NFIA | 6e-44 | Tier 4: intronic/intergenic |
| rs12461206 | 19 | 7235439 | A>C,T | 0.196 | intron_variant | INSR | 7e-41 | Tier 4: intronic/intergenic |
| rs73575086 | 16 | 79714588 | T>A,C | 0.296 | intron_variant | MAFTRR, LINC01229 | 4e-37 | Tier 4: intronic/intergenic |
| rs12431502 | 14 | 93097919 | G>A | 0.159 | intron_variant | ITPK1 | 2e-36 | Tier 4: intronic/intergenic |
| rs66760320 | 6 | 43938518 | C>T | 0.277 | intron_variant | SCIRT | 1e-31 | Tier 4: intronic/intergenic |
| rs116909374 | 14 | 36269155 | C>T | 0.024 | non_coding_transcript_exon_variant | LINC00609 - MBIP | 1e-31 | Tier 4: intronic/intergenic |
| rs142698837 | 8 | 132869781 | G>A | 0.001 | missense_variant | TG | 3e-31 | Tier 1: coding |
| chr14:93585331 | 0.197 | 4e-31 | Tier 4: intronic/intergenic | |||||
| rs3758723 | 11 | 45221961 | T>C | 0.252 | intron_variant | PRDM11 | 3e-30 | Tier 4: intronic/intergenic |
| rs4338740 | 15 | 49443100 | T>C | 0.13 | intron_variant | FGF7, FAM227B | 4e-29 | Tier 4: intronic/intergenic |
| chr8:133883671 | 0.024 | 7e-29 | Tier 4: intronic/intergenic | |||||
| rs10799824 | 1 | 19514680 | G>A | 0.241 | intron_variant | MICOS10 | 2e-28 | Tier 4: intronic/intergenic |
| chr11:45237858 | 0.277 | 5e-28 | Tier 4: intronic/intergenic | |||||
| chr1:61619056 | 0.172 | 6e-27 | Tier 4: intronic/intergenic | |||||
| rs4578973 | 3 | 194200845 | C>T | 0.21 | non_coding_transcript_exon_variant | LINC00887 | 2e-24 | Tier 4: intronic/intergenic |
| rs1203925 | 20 | 22608135 | G>A,C | 0.493 | intergenic_variant | LNCNEF - LINC01747 | 5e-21 | Tier 4: intronic/intergenic |
| chr1:218652990 | 0.403 | 7e-21 | Tier 4: intronic/intergenic | |||||
| rs555310482 | 8 | 69445688 | C>A,T | 0.339 | intron_variant | LINC01603 | 8e-21 | Tier 4: intronic/intergenic |
| rs73575085 | 16 | 79714179 | G>C | 0.264 | intron_variant | LINC01229, MAFTRR | 3e-20 | Tier 4: intronic/intergenic |
| rs675763 | 1 | 218508777 | A>C,G,T | 0.38 | intron_variant | LINC02869 | 2e-18 | Tier 4: intronic/intergenic |
| rs925488 | 9 | 97784109 | G>A | 0.209 | intron_variant | PTCSC2 | 2e-17 | Tier 4: intronic/intergenic |
| chr20:55894299 | 0.444 | 8e-17 | Tier 4: intronic/intergenic | |||||
| chr12:66044284 | 0.298 | 1e-16 | Tier 4: intronic/intergenic | |||||
| rs7207781 | 17 | 61253946 | A>C | 0.084 | intron_variant | BCAS3 | 4e-16 | Tier 4: intronic/intergenic |
| rs6085657 | 20 | 6702192 | A>C,G | 0.389 | intergenic_variant | CASC20 - LINC01713 | 1e-14 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 3.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE4 | 2 |
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00150124 | PHASE4 | COMPLETED | Block-replacement Therapy During Radioiodine Therapy |
| NCT00150137 | PHASE4 | COMPLETED | Antithyroid Drugs During Radioiodine Therapy |
| NCT05774535 | Not specified | WITHDRAWN | Prospective, Observational Study on the Carotid Intima-media Thickness in Patients Undergoing Thyroid Surgery |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| METHIMAZOLE | 4 | 2 |
Related Atlas pages
- Drugs: Methimazole