thyroid hormone resistance, generalized, autosomal recessive

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Disease Overview

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.


Synonyms

  • GRTH
  • Gthr
  • Refetoff syndrome
  • THRB
  • thyroid hormone receptor BETA
  • thyroid hormone resistance
  • thyroid hormone resistance syndrome
  • thyroid hormone resistance, autosomal recessive
  • thyroid hormone resistance, generalized, autosomal recessive
  • thyroid hormone unresponsiveness

OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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