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ORPHA:424

Familial hyperthyroidism due to mutations in TSH receptor

low confidenceDisorder

Also known as: Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone

Publications

41,097

Trials

0

Interventional, condition-specific

Researchers

528

Distinct authors in sample

Gene link

TSHR

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

familial non-immune hyperthyroidism · resistance to thyroid stimulating hormone

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — TSHR

  2. LiteraturePresent

    41,097 matched papers (25,932 in last 10 years) Source

  3. Phenotype characterisedPresent

    36 HPO annotations (e.g. Small for gestational age; Increased circulating T4 concentration; Increased circulating free T3) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 45 for broader category hyperthyroidism

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 (TSHR).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

36

Associated phenotypes · MONDO:0012203

  • Small for gestational age
  • Increased circulating T4 concentration
  • Increased circulating free T3
  • Anti-thyroglobulin antibody positivity
  • Tachycardia

Showing 5 of 36 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

41,097

41,097 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

41,097 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).

25,932 in the last 10 years · low confidence

Phrase hits: 97 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

528

Distinct author names in 97 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
    Adamska A4 papers · 2020

    Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Białystok, Białystok, Poland.

    Papers in Europe PMC
  2. 02
    Adamski M4 papers · 2020

    Faculty of Computer Science, Bialystok University of Technology, Białystok, Poland.

    Papers in Europe PMC
  3. 03
    Jüppner H4 papers · 2024

    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  4. 04
    Kowalska I4 papers · 2020

    Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland.

    Papers in Europe PMC
  5. 05
    Krentowska A4 papers · 2020

    Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland.

    Papers in Europe PMC
  6. 06
    Łebkowska A4 papers · 2020

    Department of Internal Medicine and Metabolic Diseases, Medical University of Białystok, Białystok, Poland.

    Papers in Europe PMC
  7. 07
    Takatani R4 papers · 2017

    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  8. 08
    Hryniewicka J3 papers · 2020

    Department of Endocrinology, Diabetology and Internal Medicine, Medical University of Białystok, 15-276 Białystok, Poland.

    Papers in Europe PMC
  9. 09
    Barini A2 papers · 2021

    Department of Laboratory Medicine, "Agostino Gemelli" School of Medicine, Institute of Biochemistry and Clinical Biochemistry, University Foundation Polyclinic, Catholic University of the Sacred Heart, Rome, Italy.

    Papers in Europe PMC
  10. 10
    Castellana F2 papers · 2021

    Unit of Research Methodology and Data Sciences for Population Health, National Institute of Gastroenterology "Saverio de Bellis", Research Hospital, Castellana Grotte, 70013 Bari, Italy.

    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). 45 trials are registered for hyperthyroidism, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

45 interventional trials matched hyperthyroidism, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: hyperthyroidism

45

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.

Recruiting under the broader category

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 13 · after dedupe 13 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 13 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (13)

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 Familial hyperthyroidism due to mutations in TSH receptor — 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.

("Familial hyperthyroidism due to mutations in TSH receptor" OR "Familial non-immune hyperthyroidism" OR "Resistance to thyroid stimulating hormone") OR ("TSHR" OR "TSHR syndrome" OR "TSHR-related")

Run this search on Europe PMC

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

"Familial hyperthyroidism due to mutations in TSH receptor" OR "Familial non-immune hyperthyroidism" OR "Resistance to thyroid stimulating hormone"

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

Parent-category trials query:

"hyperthyroidism"

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

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 (41097) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:48:38.852Z