ORPHA:276399
Familial multinodular goiter
Also known as: FMNG · Familial MNG · Familial multinodular goiter syndrome
Publications
71
51.2th percentile
Trials
0
Interventional, condition-specific
Researchers
434
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007681
- MeSH:C562732
- OMIM:138800
- UMLS:C0302859
Additional Mondo synonyms (5)
MNG1 · familial MNG · goiter, multinodular 1, with or without Sertoli-Leydig cell tumors · goiter, nontoxic, with Intrathyroidal calcification · multinodular goiter, adolescent
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
71 matched papers (44 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 4 for broader category multinodular goiter
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
71
71 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
71 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
44 in the last 10 years · medium confidence · 51.2th percentile (publications denominator)
Phrase hits: 64 · MeSH hits: 7
Who's working on it?
434
Distinct author names in 71 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Foulkes WD7 papers · 2022
1] Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada [2] Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada [3] The Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.
Papers in Europe PMC - 02Sabbaghian N6 papers · 2021
1] Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada [2] Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada.
Papers in Europe PMC - 03de Kock L4 papers · 2021
Departments of Human Genetics (L.d.K., M.K.W., W.D.F.), Pathology (I.B.), Oncology (W.D.F.), McGill University; Department of Medical Genetics, Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital (L.d.K., M.K.W., N.S., W.D.F.); Research Institute of the McGill University Health Centre (L.d.K., W.D.F.); McGill University and Genome Québec Innovation Centre (T.R., P.B., J.R.), Montréal, Québec, Canada; and (J.R.P.), Minneapolis, Minnesota, USA.
Papers in Europe PMC - 04Hill DA4 papers · 2022
Division of Pathology and Center for Genetic Medicine Research, Children's National Health System, Washington, DC 20010.
Papers in Europe PMC - 05Niedziela M4 papers · 2022
Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland.
Papers in Europe PMC - 06Condello V3 papers · 2024
Department of Oncology-Pathology, Karolinska Institutet, 171 64 Stockholm, Sweden.
Papers in Europe PMC - 07Dehner LP3 papers · 2022
Washington University in St. Louis, St. Louis, Missouri 63130.
Papers in Europe PMC - 08Hamel N3 papers · 2020
1] Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada [2] The Research Institute, McGill University Health Centre, Montreal, Quebec, Canada.
Papers in Europe PMC - 09Juhlin CC3 papers · 2024
Department of Oncology-Pathology, Karolinska Institutet, 171 64, Solna-Stockholm, Sweden.
Papers in Europe PMC - 10Li H3 papers · 2025
Department of Anatomy and Physiology, Kansas State University College of Veterinary Medicine, 1600 Denison Avenue, Manhattan, KS 66506, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 4 trials are registered for multinodular goiter, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
4 interventional trials matched multinodular goiter, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: multinodular goiter
4
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Familial multinodular goiter" OR "Familial MNG" OR "Familial multinodular goiter syndrome" OR "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" OR "goiter, nontoxic, with Intrathyroidal calcification" OR "multinodular goiter, adolescent"
MeSH descriptor terms unioned into the query: Euthyroid Goiter
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial multinodular goiter" OR "Familial MNG" OR "Familial multinodular goiter syndrome" OR "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" OR "goiter, nontoxic, with Intrathyroidal calcification" OR "multinodular goiter, adolescent" OR "Euthyroid Goiter"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"multinodular goiter"
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: FMNG; MNG1
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T11:41:05.817Z