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ORPHA:99361

Isolated familial medullary thyroid carcinoma

low confidenceDisorder

Also known as: Hereditary isolated MTC · Isolated familial MTC

Publications

1,389

Trials

0

Interventional, condition-specific

Researchers

1,197

Distinct authors in sample

Gene link

RET

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare thyroid tumor characterized by a malignant neoplasm derived from the calcitonin-secreting parafollicular C-cells of the thyroid and occurring familially, but not as a component of multiple endocrine neoplasia syndromes. The commonly multifocal, bilateral nodules are typically located at the junction of the upper and middle thirds of the thyroid lobes. Clinically, patients may present with diarrhea, flushing, or weight loss caused by excessive secretion of calcitonin by the tumor. In rare cases, the tumor can also cause Cushing syndrome due to ectopic corticotropin production.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

familial MTC · familial medullary thyroid carcinoma · hereditary medullary thyroid gland carcinoma · hereditary thyroid medullary carcinoma · thyroid carcinoma, familial medullary

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — RET

  2. LiteraturePresent

    1,389 matched papers (490 in last 10 years) Source

  3. Phenotype characterisedPresent

    1 HPO annotations (e.g. Medullary thyroid carcinoma) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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?

Yes — we know a specific gene responsible (RET).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

1

Associated phenotypes · MONDO:0007958

  • Medullary thyroid carcinoma

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,389

1,389 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,389 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

490 in the last 10 years · low confidence

Phrase hits: 1,389 · MeSH hits: 14

Open Europe PMC search

Who's working on it?

1,197

Distinct author names in 200 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.

  1. 01
    Alevizaki M5 papers · 2026

    Endocrine UnitDepartment of Medical Therapeutics, National and Kapodistrian University of Athens, Alexandra Hospital, Athens, Greece.

    Papers in Europe PMC
  2. 02
    Nosé V4 papers · 2026

    Department of Pathology, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, MA 02114, USA.

    Papers in Europe PMC
  3. 03
    Wang H4 papers · 2026

    Division of Thyroid Surgery, The China-Japan Union Hospital of Jilin University, Jilin Provincial Key Laboratory of Surgical Translational Medicine, Jilin Provincial Precision Medicine Laboratory of Molecular Biology and Translational Medicine on Differentiated Thyroid Carcinoma, Changchun, China.

    Papers in Europe PMC
  4. 04
    Dionigi G3 papers · 2025

    Division of Surgery, Istituto Auxologico Italiano IRCCS, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Fanis P3 papers · 2024

    Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus.

    Papers in Europe PMC
  6. 06
    Li F3 papers · 2025

    Department of Oncologic and Urology Surgery, the 117th PLA Hospital, Wenzhou Medical University, Hangzhou 310004, Zhejiang Province, China.

    Papers in Europe PMC
  7. 07
    Li L3 papers · 2024

    Laboratory of Pathology, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  8. 08
    Neocleous V3 papers · 2024

    Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus. vassosn@cing.ac.cy.

    Papers in Europe PMC
  9. 09
    Phylactou LA3 papers · 2024

    Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus. laphylac@cing.ac.cy.

    Papers in Europe PMC
  10. 10
    Saltiki K3 papers · 2025

    Endocrine UnitDepartment of Medical Therapeutics, National and Kapodistrian University of Athens, Alexandra Hospital, Athens, Greece saze@otenet.gr.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Isolated familial medullary thyroid carcinoma — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Isolated familial medullary thyroid carcinoma" OR "Hereditary isolated MTC" OR "Isolated familial MTC" OR "familial MTC" OR "familial medullary thyroid carcinoma" OR "hereditary medullary thyroid gland carcinoma" OR "hereditary thyroid medullary carcinoma" OR "thyroid carcinoma, familial medullary"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Familial medullary thyroid carcinoma

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Isolated familial medullary thyroid carcinoma" OR "Hereditary isolated MTC" OR "Isolated familial MTC" OR "familial MTC" OR "familial medullary thyroid carcinoma" OR "hereditary medullary thyroid gland carcinoma" OR "hereditary thyroid medullary carcinoma" OR "thyroid carcinoma, familial medullary"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1389) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T06:11:15.632Z