Goiter
diseaseOn this page
Also known as goiter (disease)goitre (disease)Thyromegaly
Summary
Goiter (MONDO:0005397) is a disease (an umbrella term covering 7 Mondo subtypes) with 32 GWAS associations across 10 studies and 33 clinical trials. Top therapeutic interventions include levothyroxine, thyroid, and cellulose, oxidized. A subtype of thyroid gland disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 7 Mondo subtypes
- GWAS associations: 32
- Clinical trials: 33
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | goiter |
| Mondo ID | MONDO:0005397 |
| EFO | EFO:0004283 |
| MeSH | D006042 |
| DOID | DOID:12176 |
| NCIT | C26785 |
| SNOMED CT | 3716002 |
| UMLS | C0018021 |
| MedGen | 42270 |
| Is cancer (heuristic) | no |
Also known as: goiter · goiter (disease) · goitre (disease) · Thyromegaly
Data availability: 32 GWAS associations (10 studies) · 1 HPO phenotype.
Disease family
This is a subtype of thyroid gland disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › endocrine system disorder › thyroid gland disorder › goiter
Related subtypes (11): thyrocalcitonin secretion disease, thyroiditis, hyperthyroidism, thyroid malformation, hyperthyroxinemia, hypothyroidism, C-cell hyperplasia, atrophy of thyroid, euthyroid sick syndrome, thyroid tumor, inherited thyroid metabolism disease
Subtypes (7): toxic diffuse goiter, dyshormonogenic goiter, nontoxic goiter, endemic goiter, lingual goiter, nodular goiter, substernal goiter
Genetics & variants
GWAS landscape
32 GWAS associations across 10 studies. Top hits map to 18 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs73398264 | 1e-51 | FAM227B | C | 0.47 |
| rs7030256 | 5e-37 | PTCSC2 | G | 0.38 |
| rs12592277 | 3e-26 | FGF7, FAM227B | G | 0.35 |
| rs334698 | 3e-25 | NFIA | C | 0.44 |
| rs10917469 | 1e-22 | MICOS10 | A | 0.33 |
| rs17477923 | 3e-20 | FAM227B | T | 0.36 |
| rs7203756 | 6e-20 | MAFTRR, LINC01229 | A | 0.26 |
| rs965513 | 1e-18 | PTCSC2 | A | 0.3 |
| rs368187 | 2e-17 | LINC00609 | C | 0.2 |
| rs995734 | 9e-16 | LNCNEF | G | 0.24 |
| rs4804416 | 2e-15 | INSR | G | 0.19 |
| chr20:22585427 | 5e-14 | G | 0.31 | |
| rs57652769 | 1e-13 | MAFTRR, LINC01229 | T | 0.19 |
| chr1:19845279 | 2e-13 | C | 0.34 | |
| chr16:79742390 | 6e-13 | T | 0.32 | |
| rs570393500 | 6e-13 | LINC00636 | G | 2.29 |
| rs10534088 | 2e-12 | LNCNEF - LINC01747 | G | 0.2 |
| rs796395 | 1e-11 | LINC02869 | A | 0.17 |
| rs554880587 | 3e-11 | MRTFB - Y_RNA | G | 3.09 |
| rs73400205 | 5e-11 | FGF7, FAM227B | ? | |
| rs12318900 | 6e-11 | PCNPP3 - RPSAP52 | A | 0.29 |
| rs12407089 | 8e-11 | CAPZB | C | 0.16 |
| rs8013274 | 1e-10 | ITPK1 | T | 0.21 |
| rs6133344 | 6e-10 | CASC20 - LINC01713 | T | 0.15 |
| rs75143612 | 8e-10 | PHF20L1 | C | 0.58 |
| rs11645288 | 3e-09 | SALL1 | A | 0.2 |
| rs12493688 | 3e-09 | LINC00887 | G | 0.17 |
| rs334721 | 8e-09 | NFIA | C | 0.55 |
| rs66760320 | 1e-08 | SCIRT | T | 0.16 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90018853 | Sakaue S | 2021 | 2,711 | 456,942 | A cross-population atlas of genetic associations for 220 human phenotypes. |
| GCST90651250 | Liu TY | 2025 | 2,052 | 212,391 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90475635 | Verma A | 2024 | 1,645 | 447,612 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90475634 | Verma A | 2024 | 1,259 | 119,526 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479859 | Verma A | 2024 | 1,259 | 119,526 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90018633 | Sakaue S | 2021 | 1,127 | 172,656 | A cross-population atlas of genetic associations for 220 human phenotypes. |
| GCST90435684 | Zhou W | 2018 | 602 | 391,429 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90043620 | Jiang L | 2021 | 465 | 455,883 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90013883 | Mbatchou J | 2021 | 0 | 0 | Computationally efficient whole-genome regression for quantitative and binary traits. |
| GCST90013933 | Mbatchou J | 2021 | 0 | 0 | Computationally efficient whole-genome regression for quantitative and binary traits. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 28 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 27 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 2 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 18 |
| non_coding_transcript_exon_variant | 3 |
| unknown | 3 |
| intergenic_variant | 3 |
| synonymous_variant | 1 |
| splice_region_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs73398264 | 15 | 49414220 | T>C | 0.05 | intron_variant | FAM227B | 1e-51 | Tier 4: intronic/intergenic |
| rs7030256 | 9 | 97772921 | C>A,G,T | 0.05 | intron_variant | PTCSC2 | 5e-37 | Tier 4: intronic/intergenic |
| rs12592277 | 15 | 49436562 | G>A,T | 0.2 | intron_variant | FGF7, FAM227B | 3e-26 | Tier 4: intronic/intergenic |
| rs334698 | 1 | 61155321 | C>G,T | 0.088 | intron_variant | NFIA | 3e-25 | Tier 4: intronic/intergenic |
| rs10917469 | 1 | 19517082 | A>G,T | 0.168 | intron_variant | MICOS10 | 1e-22 | Tier 4: intronic/intergenic |
| rs17477923 | 15 | 49418988 | T>C | 0.248 | intron_variant | FAM227B | 3e-20 | Tier 4: intronic/intergenic |
| rs7203756 | 16 | 79711709 | A>T | 0.303 | intron_variant | MAFTRR, LINC01229 | 6e-20 | Tier 4: intronic/intergenic |
| rs965513 | 9 | 97793827 | A>C,G,T | 0.296 | intron_variant | PTCSC2 | 1e-18 | Tier 4: intronic/intergenic |
| rs368187 | 14 | 36063370 | G>A,C,T | 0.05 | non_coding_transcript_exon_variant | LINC00609 | 2e-17 | Tier 4: intronic/intergenic |
| rs995734 | 20 | 22607370 | G>C,T | 0.282 | non_coding_transcript_exon_variant | LNCNEF | 9e-16 | Tier 4: intronic/intergenic |
| rs4804416 | 19 | 7223837 | T>G | 0.05 | intron_variant | INSR | 2e-15 | Tier 4: intronic/intergenic |
| chr20:22585427 | 0.239 | 5e-14 | Tier 4: intronic/intergenic | |||||
| rs57652769 | 16 | 79720079 | C>G,T | 0.05 | intron_variant | MAFTRR, LINC01229 | 1e-13 | Tier 4: intronic/intergenic |
| chr1:19845279 | 0.148 | 2e-13 | Tier 4: intronic/intergenic | |||||
| chr16:79742390 | 0.276 | 6e-13 | Tier 4: intronic/intergenic | |||||
| rs570393500 | 3 | 107932649 | G>A | 0.001 | intergenic_variant | LINC00636 | 6e-13 | Tier 4: intronic/intergenic |
| rs10534088 | 20 | 22651940 | GCCAGC>G | 0.05 | intergenic_variant | LNCNEF - LINC01747 | 2e-12 | Tier 4: intronic/intergenic |
| rs796395 | 1 | 218508629 | G>A | 0.05 | intron_variant | LINC02869 | 1e-11 | Tier 4: intronic/intergenic |
| rs554880587 | 16 | 14268742 | G>A | 0 | intron_variant | MRTFB - Y_RNA | 3e-11 | Tier 4: intronic/intergenic |
| rs73400205 | 15 | 49442346 | C>G,T | 0.05 | intron_variant | FGF7, FAM227B | 5e-11 | Tier 4: intronic/intergenic |
| rs12318900 | 12 | 65650504 | G>A | 0.05 | intron_variant | PCNPP3 - RPSAP52 | 6e-11 | Tier 4: intronic/intergenic |
| rs12407089 | 1 | 19441320 | G>A,C,T | 0.05 | non_coding_transcript_exon_variant | CAPZB | 8e-11 | Tier 4: intronic/intergenic |
| rs8013274 | 14 | 93103433 | G>C,T | 0.05 | intron_variant | ITPK1 | 1e-10 | Tier 4: intronic/intergenic |
| rs6133344 | 20 | 6702004 | C>T | 0.05 | intergenic_variant | CASC20 - LINC01713 | 6e-10 | Tier 4: intronic/intergenic |
| rs75143612 | 8 | 132837410 | G>C,T | 0.05 | intron_variant | PHF20L1 | 8e-10 | Tier 4: intronic/intergenic |
| rs11645288 | 16 | 51138766 | G>A | 0.05 | synonymous_variant | SALL1 | 3e-09 | Tier 4: intronic/intergenic |
| rs12493688 | 3 | 194201059 | T>A,C,G | 0.05 | splice_region_variant | LINC00887 | 3e-09 | Tier 2: splice/UTR |
| rs334721 | 1 | 61172849 | A>C,G,T | 0.05 | intron_variant | NFIA | 8e-09 | Tier 4: intronic/intergenic |
| rs66760320 | 6 | 43938518 | C>T | 0.05 | intron_variant | SCIRT | 1e-08 | 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: 33.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 28 |
| PHASE4 | 3 |
| PHASE3 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00385983 | PHASE4 | UNKNOWN | Total Thyroidectomy With Harmonic Scalpel® |
| NCT00400465 | PHASE4 | COMPLETED | Is the Routine Pressure Dressing After Thyroidectomy Necessary? |
| NCT02329379 | PHASE4 | WITHDRAWN | The Role of Levothyroxine on Goiter With Atypia of Undetermined Significance |
| NCT02112370 | PHASE3 | COMPLETED | Efficacy of Ropivacaine (With Epinephrine) in BABA Endoscopic and Robotic Thyroidectomy |
| NCT05851560 | PHASE1 | COMPLETED | Prospective Comparison of the Effect on Antiadhesive Barriers During Thyroid Surgery |
| NCT05391945 | Not specified | RECRUITING | Effects of Thyroidectomy on Obstructive Sleep Apnea in Patients Suffering From Goiters |
| NCT06296420 | Not specified | RECRUITING | Dysphagia After Thyroidectomy |
| NCT00565903 | Not specified | COMPLETED | Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome |
| NCT00691990 | Not specified | COMPLETED | Classic Total Thyroidectomy With or Without Drains |
| NCT00692835 | Not specified | COMPLETED | Immediate Postoperative Course of Patients With Mini Video Assisted Total Thyroidectomy (miVAT) Versus Classic Total Thyroidectomy (cTT) |
| NCT00693147 | Not specified | COMPLETED | Late Postoperative Course of Patients With Mini Video Assisted Thyroidectomy (miVAT) Versus Classic Thyroidectomy (T) |
| NCT00754182 | Not specified | COMPLETED | Subcuticular Suture Versus Synthetic Glue in Thyroidectomy Incision |
| NCT00941551 | Not specified | COMPLETED | Thyroid Lobectomy With or Without Levothyroxine Treatment Postoperatively |
| NCT00946894 | Not specified | COMPLETED | Outcomes of Different Thyroid Resections for Multinodular Non-toxic Goiter |
| NCT01226914 | Not specified | COMPLETED | A Trial Comparing Wound Drainage and Post-operative Complications With and Without the Use of EVICEL™ Fibrin Sealant in Thyroidectomy |
| NCT01273714 | Not specified | COMPLETED | Subtotal Versus Total Thyroidectomy for Benign Goiter |
| NCT01320813 | Not specified | TERMINATED | Trial Comparing Complication Rates Associated With Robot-assisted Thyroidectomy to External Thyroidectomy |
| NCT01349634 | Not specified | COMPLETED | The Effects of Iodized Salt on Cognitive Development in Ethiopia |
| NCT01358136 | Not specified | UNKNOWN | ThyrOp: A Study of Individual Subclinical Hypothyroidism After Hemithyroidectomy for Benign Nontoxic Goiter |
| NCT01408368 | Not specified | COMPLETED | Subtotal Versus Total Thyroidectomy for Graves’ Disease |
| NCT01756534 | Not specified | UNKNOWN | Oxidized Cellulose Hemostatic Agent in Thyroid Surgery: a Prospective Randomized Controlled Study |
| NCT01771523 | Not specified | COMPLETED | Is the Use of Drain for Thyroid Surgery Realistic? |
| NCT01812395 | Not specified | UNKNOWN | Thyroidectomy Using Ultrasonic Dissector: Is Superior Laryngeal Nerve Really Safe ? |
| NCT02468921 | Not specified | UNKNOWN | Goitres Influence on Voice Function - The Impact of Surgery |
| NCT02651818 | Not specified | COMPLETED | Changes in Quality of Life Following Surgical Treatment of Benign Non-toxic Goiter |
| NCT02710799 | Not specified | COMPLETED | Evaluation of the Effects of Teleconsultations on a Endocrinology Referral List |
| NCT03202160 | Not specified | UNKNOWN | Causes of Goiter in Children Attending Assiut University Children Hospital |
| NCT03615456 | Not specified | COMPLETED | Sutureless Versus Conventional Thyroidectomy |
| NCT05103956 | Not specified | UNKNOWN | Hemostatic Patch/Collagen Sealant and Polyethylene Glycol (Hemopatch) in the Postoperative of the Thyroidectomy. |
| NCT05252884 | Not specified | COMPLETED | Calcium+Calcitriol Versus PTH for the Prevention of Hypocalcemia in Thyroidectomy. Randomized Clinical Trial |
| NCT05434715 | Not specified | COMPLETED | Evaluation of Minimal Invasive Thyroidectomy |
| NCT07274670 | Not specified | COMPLETED | Superficial Cervical Plexus Block With Dexmedetomidine Versus Without Adjuvant in Thyroid Surgery |
| NCT07575243 | Not specified | COMPLETED | Thyroidectomy-specific Enhanced Recovery After Surgery (ERAS) Protocol |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| LEVOTHYROXINE | 4 | 2 |
| THYROID | 3 | 1 |
| CELLULOSE, OXIDIZED | -1 | 1 |
Related Atlas pages
- Drugs: Levothyroxine, Thyroid