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ORPHA:424

Familial hyperthyroidism due to mutations in TSH receptor

high confidenceDisorder

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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

97

61.5th percentile

Trials

0

Interventional, condition-specific

Researchers

528

Distinct authors in sample

Gene link

TSHR

Strong

Readiness

3/6

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.”

3/6 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

    97 matched papers (75 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

97

97 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.

97 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).

75 in the last 10 years · high confidence · 61.5th percentile (publications denominator)

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 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.

high 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.

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

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 2026-07-26

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"

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" OR "TSHR"

Recall-expansion terms: TSHR

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

Parent-category trials query:

"hyperthyroidism"

Query health: suspect — strategies attempted: phrase, recall-expansion; 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

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