ORPHA:209905
Brain-lung-thyroid syndrome
Also known as: Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
5,373
Trials
0
Interventional, condition-specific
Researchers
1,298
Distinct authors in sample
Gene link
NKX2-1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Brain-lung-thyroid syndrome is a rare disorder characterized by hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign chorea (BHC).
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:0012593
- MeSH:C567034
- OMIM:610978
- UMLS:C1970269
Additional Mondo synonyms (3)
brain-lung-thyroid syndrome · choreoathetosis, hypothyroidism, and neonatal respiratory distress · choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
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.
- Gene identifiedPresent
Definitive — NKX2-1
- LiteraturePresent
5,373 matched papers (3,638 in last 10 years) Source
- Phenotype characterisedPresent
98 HPO annotations (e.g. Crackles; Oxygen desaturation on exertion; Dystonia) Source
- 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?
Yes — we know a specific gene responsible (NKX2-1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
98
Associated phenotypes · MONDO:0012593
- Crackles
- Oxygen desaturation on exertion
- Dystonia
- Ataxia
- Motor delay
Showing 5 of 98 — 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?
5,373
5,373 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.
5,373 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).
3,638 in the last 10 years · low confidence
Phrase hits: 174 · MeSH hits: 0
Who's working on it?
1,298
Distinct author names in 174 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.
- 01Epaud R10 papers · 2025
Centre des Maladies Respiratoires Rare, Respirare® Centre Hospitalier Intercommunal de Créteil, Inserm, Unité 955, Equipe 5, Université Paris-Est, Faculté de Médecine, Creteil, France.
Papers in Europe PMC - 02Nathan N9 papers · 2025
AP-HP, Hôpital Trousseau, Pediatric Pulmonary Department, Paris, France. nadia.nathan@trs.aphp.fr
Papers in Europe PMC - 03Bhatia KP6 papers · 2026
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology University College London London United Kingdom.
Papers in Europe PMC - 04Borie R6 papers · 2026
Service de Pneumologie A, DHU FIRE, Centre de Référence (Site Constitutif) Maladies Pulmonaires Rares, APHP, Hôpital Bichat, 46 rue Henri Huchard, 75877, Paris, CEDEX 18, France. raphael.borie@aphp.fr.
Papers in Europe PMC - 05Carré A6 papers · 2025
University Paris-Descartes, INSERM U845, 75270 Paris, France.
Papers in Europe PMC - 06Clement A6 papers · 2019
Pediatric Pulmonary Department, Reference Center for Rare Lung Diseases, AP-HP, Hôpital Trousseau, Inserm UMR S-938, Université Pierre et Marie Curie-Paris 6, Paris, F-75012 France. annick.clement@trs.aphp.fr
Papers in Europe PMC - 07Delestrain C6 papers · 2025
Department of Pediatric Pulmonology and Pediatric Allergology, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Papers in Europe PMC - 08Polak M6 papers · 2025
Department of Paediatric Endocrinology Gynaecology and Diabetology Ile de France Regional Neonatal Screening Centre (CRDN) Necker Enfants-Malades University Hospital Paris France.
Papers in Europe PMC - 09Crestani B5 papers · 2024
Service de Pneumologie A, DHU FIRE, Centre de Référence (Site Constitutif) Maladies Pulmonaires Rares, APHP, Hôpital Bichat, 46 rue Henri Huchard, 75877, Paris, CEDEX 18, France.
Papers in Europe PMC - 10Griese M5 papers · 2025
German Center for Lung Research (DZL), Hannover, Germany.
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 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)
- ctis·2026-526113-28-00·Authorised·Prospective, multicenter, randomized study on combined LT4 + LT3 therapy versus LT4 in the control of TSH in patients with advanced thyroid cancer treated with tyrosine kinase inhibitors.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524175-23-00·Authorised, ongoing·Impact of Early Thyroid Hormone Replacement on Kidney Function and Health-Related Quality of Life in Patients at Risk of Postoperative Hypothyroidism after Hemithyroidectomy: A Randomised Controlled Trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-515602-34-01·Authorised·Ultrasound-guided Radiofrequency Ablation versus radioactive Iodine as treatment for Hyperthyroidism caused by Solitary Autonomous Thyroid Nodules (RABITO study)
skipped — LLM skipped (--skip-llm)
- ctis·2024-513883-24-00·Authorised, recruiting·A national randomized placebo-controlled double-blind multicenter trial of LT4/LT3 combination therapy in patients with autoimmune hypothyroidism: the T3-4-Hypo trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-514789-38-00·Cancelled·Impact of levothyroxine on erectile function measured by the IIEF-15, EHS, PGIC and EDITS questionnaires in patients with hypothyroidism. Prospective, randomized controlled clinical trial with sildenafil 100
skipped — LLM skipped (--skip-llm)
- ctis·2024-514377-22-00·Authorised, ongoing·Effect of levothyroxine as adjuvant therapy to a hypocaloric diet in the treatment of obesity: a randomized placebo-controlled trial.
skipped — LLM skipped (--skip-llm)
- ctis·2024-512642-42-00·Authorised, ongoing·Randomized study to protect from radiation iatrogenic hypothyroidism patients with medulloblastoma (any stage, any biological risk) and pediatric patients with Hodgkin lymphoma and non-Hodgkin lymphoma needing radiation therapy on thyroid site - WINHYPO 2021
skipped — LLM skipped (--skip-llm)
- ctis·2023-509130-18-00·Authorised·Impact of Intraoperative Arteriography with Indocyanine Green in Preserving the Parathyroid Glands During Total Thyroidectomy With or Without Central Cervical Lymph Node Dissection. A Multicenter Prospective Randomized Trial.
skipped — LLM skipped (--skip-llm)
- ctis·2022-502713-29-00·Cancelled·A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy, Safety, and Tolerability of Valbenazine for the Treatment of Dyskinesia Due to Cerebral Palsy
skipped — LLM skipped (--skip-llm)
- ctis·2023-503653-35-00·Cancelled·Clindamycin pharmacokinetics during obstetric or fetal surgery
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 Brain-lung-thyroid syndrome — 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.
("Brain-lung-thyroid syndrome" OR "Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome" OR "choreoathetosis, hypothyroidism, and neonatal respiratory distress") OR (MESH:"Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress") OR ("NKX2-1" OR "NKX2-1 syndrome" OR "NKX2-1-related")MeSH descriptor terms unioned into the query: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Brain-lung-thyroid syndrome" OR "Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome" OR "choreoathetosis, hypothyroidism, and neonatal respiratory distress"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 (5373) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T09:25:22.181Z