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thyroid hormone resistance, generalized, autosomal recessive

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description 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.
Uniprot Description An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone.
Mondo Term and Equivalent IDs
MONDO:0010131:  thyroid hormone resistance, generalized, autosomal recessive
GARD:0000301: 
NCIT:C85191: