Diseases

Thyroid Hormone Resistance Syndrome

thyroid hormone resistance syndrome

Basic Information

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Description: NCI2016_02D: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.|MSH2017_2016_08_12:An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.|HPO2016_07_04:Thyroid hormone resistance because of a defect in the thyroid hormone receptor. [DDD:spark]

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