thyroid hormone resistance, generalized, autosomal recessive
Findings
No curated finding names thyroid hormone resistance, generalized, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.
Definition from the Mondo Disease Ontology (MONDO:0010131), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
13 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.
- Anti-thyroid peroxidase antibody positivityHPOHP:0025379
- 1 of 1 reported patient
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- Compensated hypothyroidismHPOHP:0008223
- 1 of 1 reported patient
- Diabetes mellitusHPOHP:0000819
- 1 of 1 reported patient
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- GoiterHPOHP:0000853
- 1 of 1 reported patient
- Increased body weightHPOHP:0004324
Show the remaining 1
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 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
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: thyroid hormone resistance, generalized, autosomal recessive
- Also called
- thyroid hormone resistance, autosomal recessive