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ORPHA:90673

Hypothyroidism due to TSH receptor mutations

low confidenceDisorder

Publications

41,223

Trials

0

Interventional, condition-specific

Researchers

1,082

Distinct authors in sample

Gene link

TSHR

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A type of primary hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

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 (3)

CHNG1 · TSH resistance · hypothyroidism, congenital, nongoitrous, type 1

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — TSHR

  2. LiteraturePresent

    41,223 matched papers (26,006 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Elevated circulating thyroid-stimulating hormone concentration; Hypothyroidism; Thyroid hypoplasia) 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 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 (TSHR).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

31

Associated phenotypes · MONDO:0010142

  • Elevated circulating thyroid-stimulating hormone concentration
  • Hypothyroidism
  • Thyroid hypoplasia
  • Goiter

Showing 4 of 31 — 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?

41,223

41,223 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.

41,223 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).

26,006 in the last 10 years · low confidence

Phrase hits: 367 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,082

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
    Jüppner H12 papers · 2025

    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Electronic address: HJUEPPNER@mgh.harvard.edu.

    Papers in Europe PMC
  2. 02
    Mantovani G11 papers · 2026

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.

    Papers in Europe PMC
  3. 03
    Linglart A9 papers · 2026

    Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Sud for Rare Diseases and Filière OSCAR, AP-HP, Bicêtre Paris-Sud Hospital, 94270 Le Kremlin-Bicêtre, France.

    Papers in Europe PMC
  4. 04
    Bastepe M7 papers · 2025

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

    Papers in Europe PMC
  5. 05
    Rothenbuhler A7 papers · 2026

    Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Sud for Rare Diseases and Filière OSCAR, AP-HP, Bicêtre Paris-Sud Hospital, 94270 Le Kremlin-Bicêtre, France.

    Papers in Europe PMC
  6. 06
    Elli FM6 papers · 2022

    Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  7. 07
    Persani L6 papers · 2023

    Dipartimento di Scienze Mediche, Università degli Studi di Milano, Italy. luca.persani@unimi.it

    Papers in Europe PMC
  8. 08
    Reyes M6 papers · 2025

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

    Papers in Europe PMC
  9. 09
    Weber G6 papers · 2021

    Department of Pediatrics, Vita-Salute San Raffaele University, Milano, Italy.

    Papers in Europe PMC
  10. 10
    de Sanctis L5 papers · 2021

    Department of Public Health and Pediatric Sciences, University of Turin - Regina Margherita Children's Hospital - Health and Science City, Subintensiva Allargata Prima Infanzia, Piazza Polonia 94, 10126, Torino, Italy. luisa.desanctis@unito.it.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

Observational and natural-history studies

1 observational study matches 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.

Open the complete matched search on ClinicalTrials.gov

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 14 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · 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).

Uncertain / not reviewed (14)

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 Hypothyroidism due to TSH receptor mutations — 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.

("Hypothyroidism due to TSH receptor mutations" OR "CHNG1" OR "TSH resistance" OR "hypothyroidism, congenital, nongoitrous, type 1") 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):

"Hypothyroidism due to TSH receptor mutations" OR "CHNG1" OR "TSH resistance" OR "hypothyroidism, congenital, nongoitrous, type 1"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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 (41223) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T03:54:02.868Z