thyroid hormone resistance, generalized, autosomal dominant
MONDO:0008569Mondo
Findings
No curated finding names thyroid hormone resistance, generalized, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Elevated circulating thyroglobulin concentrationHPOHP:0025484
- 2 of 2 reported patients
- GoiterHPOHP:0000853
- 2 of 2 reported patients
- Impaired sensitivity to thyroid hormoneHPOHP:0002930
- 2 of 2 reported patients
- Increased circulating free T4 concentrationHPOHP:0033077
- 2 of 2 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 2 reported patients
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Semidominant · 2025