ORPHA:566231
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
Also known as: RTHa · Resistance to thyroid hormone alpha · Resistance to thyroid hormone due to a mutation in TRa
Publications
45
45.3th percentile
Trials
0
Interventional, condition-specific
Researchers
175
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare thyroid hormone signaling disorder characterized by a reduced T4/T3 ratio and normal levels of thyroid-stimulating hormone. The clinical variably includes neurodevelopmental delay (motor and cognitive), chronic constipation, anemia, disproportionate short stature and delayed bone age, skin tags, decreased rate, mild bradycardia, delayed teeth eruption and skeletal abnormalities. craniofacial features, such as macrocephaly, coarse facies, flattened nasal bridge, macroglossia, and thick lips can be present. Disease manifestations may vary from very mild to severe.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0034216
- UMLS:C5680127
Additional Mondo synonyms (1)
resistance to thyroid hormone alpha
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
45 matched papers (41 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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?
45
45 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=3967) is 59.
45 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).
41 in the last 10 years · medium confidence · 45.3th percentile (publications denominator)
Phrase hits: 45 · MeSH hits: 0
Who's working on it?
175
Distinct author names in 45 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.
- 01Chatterjee K7 papers · 2024
Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK. Electronic address: kkc1@medschl.cam.ac.uk.
Papers in Europe PMC - 02Moran C7 papers · 2024
Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK. Electronic address: cm682@medschl.cam.ac.uk.
Papers in Europe PMC - 03Persani L5 papers · 2025
Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Papers in Europe PMC - 04Visser WE5 papers · 2024
Erasmus University Medical Center, Rotterdam, The Netherlands.
Papers in Europe PMC - 05Demir K4 papers · 2024
Division of Pediatric EndocrinologyDokuz Eylül University, Izmir, Turkey.
Papers in Europe PMC - 06Lyons G4 papers · 2024
Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.
Papers in Europe PMC - 07Cheng SY3 papers · 2021
Laboratory of Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 08Marelli F3 papers · 2025
Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Papers in Europe PMC - 09Meima ME3 papers · 2019
Erasmus University Medical Center, Rotterdam, The Netherlands.
Papers in Europe PMC - 10Peeters RP3 papers · 2019
Erasmus University Medical Center, Rotterdam, The Netherlands.
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.
medium 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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · 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 (10)
- isrctn·ISRCTN15658653·No longer recruiting·Harnessing the potential of fermentation for healthy and sustainable foods
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN27697878·No longer recruiting·What are the effects of a 16-week exercise program on ovarian function in women with morbid obesity who have undergone bariatric surgery?
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN32169940·No longer recruiting·A controlled study to investigate the effect of a food supplement (Femifert™) on polycystic ovarian syndrome and metabolic syndrome in women
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN79659320·No longer recruiting·Efficacy and safety of peginterferon alpha-2a (40KD) (PEGASYS®) or adefovir dipivoxil in positive chronic hepatitis B patients
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12547806·No longer recruiting·Effects of coffee drinking on glucose metabolism, cytokines and gastrointestinal hormone secretion
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN30870177·No longer recruiting·Mono-centred, randomised, placebo-controlled, double-blind parallel-arm study on the effect of Conjugated Linoleic Acid (CLA) on endothelial function and (postprandial) metabolic parameters in overweight men
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN70547688·No longer recruiting·Intervention study on the effect of quercetin on biomarkers for cardiovascular syndrome in patients with different apolipoprotein E (ApoE) isoforms
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN90960030·No longer recruiting·Effect of Functional milk product On the Metabolic Syndrome II
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN91188075·No longer recruiting·Monocentered, randomised, placebo-controlled, double-blind cross-over study on the effect of Conjugated Linoleic Acid (CLA) on fasting and postprandial metabolic parameters and endothelial function in men with PPARγ2 P12A polymorphism and controls
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN41474531·No longer recruiting·Randomised, controlled, double-blind clinical study on the effect of a functional milk-product on metabolism of men with diagnosed metabolic syndrome
skipped — LLM skipped (--skip-llm)
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 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha — check Associations / patient organisations on that page.
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.
"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha" OR "Resistance to thyroid hormone alpha" OR "Resistance to thyroid hormone due to a mutation in TRa"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha" OR "Resistance to thyroid hormone alpha" OR "Resistance to thyroid hormone due to a mutation in TRa"
Study-type breakdown: 0 interventional · 0 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
Synonyms dropped by stoplist: RTHa
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T18:26:19.817Z