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Disease Thyroid Hormone Resistance Syndrome

Name Thyroid Hormone Resistance Syndrome
Synonyms Generalized Resistance to Thyroid Hormone | Generalized Thyroid Hormone Resistance | Hormone Resistance, Thyroid | Refetoff DeWind DeGroot Syndrome | Refetoff-DeWind-DeGroot Syndrome | Refetoff Syndrome | Resistance, Thyroid Hormone | Syndrome, Refetoff | Syndrome, Refetoff-DeWind-DeGroot | Thyroid Hormone Resistance
Definition 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.
Categories Endocrine system disease
MeSH® ID D018382
External Links

Top ↑ Ancestors

DiseasesEndocrine System Diseases Has associated chemicals Has associated genes Has associated exposure references Thyroid Diseases Has associated chemicals Has associated genes Has associated exposure references Hyperthyroxinemia Has associated chemicals Has associated genes Thyroid Hormone Resistance Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Thyroid Hormone Resistance Syndrome Has associated chemicals Has associated genes
  Thyroid Hormone Resistance, Generalized, Autosomal Dominant Has associated chemicals Has associated genes
  Thyroid Hormone Resistance, Generalized, Autosomal Recessive Has associated chemicals Has associated genes