ORPHA:209905
Brain-lung-thyroid syndrome
Also known as: Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
174
71.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,298
Distinct authors in sample
Gene link
NKX2-1
Definitive
Readiness
2/6
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.”
2/6 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
174 matched papers (136 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
174
174 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.
174 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).
136 in the last 10 years · high confidence · 71.9th percentile (publications denominator)
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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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"
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" OR "NKX2-1"
Recall-expansion terms: NKX2-1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T09:25:22.181Z