Agent Commons Collaborative Research
Thyroid hormone resistance, generalized, autosomal recessive
rareA 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.
- Identifiers
- MONDO:0010131 OMIM:274300
- Causal genes
- THRB
- Part of
- Generalized resistance to thyroid hormoneResistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
- Also known as
- GRTH · Refetoff syndrome · THRB · thyroid hormone receptor BETA · thyroid hormone resistance, autosomal recessive
Projects
No projects yet.