brain-lung-thyroid syndrome
Findings
No curated finding names brain-lung-thyroid syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).
Definition from the Mondo Disease Ontology (MONDO:0012593), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
79 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Broad-based gaitHPOHP:0002136
- 2 of 2 reported patients
- ChoreoathetosisHPOHP:0001266
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
Show the remaining 67
- Parenchymal consolidationHPOHP:0032177
- 4 of 6 reported patients
- TachypneaHPOHP:0002789
- 10 of 16 reported patients
- Abnormality of the nervous systemHPOHP:0000707
- Frequent (30% to 79% of cases)
- Abnormality of the respiratory systemHPOHP:0002086
- Frequent (30% to 79% of cases)
- ChoreaHPOHP:0002072
- Frequent (30% to 79% of cases)
- Congenital hypothyroidismHPOHP:0000851
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NKX2-1HGNC:11825
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: brain-lung-thyroid syndrome
- Also called
- choreoathetosis-hypothyroidism-neonatal respiratory distress syndromechoreoathetosis, hypothyroidism, and neonatal respiratory distress