resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Findings
No curated finding names resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.
Definition from the Mondo Disease Ontology (MONDO:0700478), read 2026-09-29. CC BY 4.0.
Features
19 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.
- GoiterHPOHP:0000853
- Very frequent (80% to 99% of cases)
- Inappropriately normal thyroid-stimulating hormone levelHPOHP:0033075
- Very frequent (80% to 99% of cases)
- Increased circulating free T4 concentrationHPOHP:0033077
- Very frequent (80% to 99% of cases)
- TachycardiaHPOHP:0001649
- Very frequent (80% to 99% of cases)
- Anti-thyroglobulin antibody positivityHPOHP:0032069
- Frequent (30% to 79% of cases)
- Anti-thyroid peroxidase antibody positivityHPOHP:0025379
- Frequent (30% to 79% of cases)
Show the remaining 7
- Recurrent otitis mediaHPOHP:0000403
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- Elevated circulating thyroglobulin concentrationHPOHP:0025484
- Occasional (5% to 29% of cases)
- Mild postnatal growth retardationHPOHP:0001530
- Occasional (5% to 29% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Occasional (5% to 29% of cases)
- PalpitationsHPOHP:0001962
- Occasional (5% to 29% 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.
- THRBHGNC:11799
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of