Thyroid hormone resistance, generalized, autosomal recessive

MONDO:0010131

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.

Also known as: thyroid hormone resistance, thyroid hormone resistance syndrome, thyroid hormone resistance, autosomal recessive, thyroid hormone resistance, generalized, autosomal recessive, GRTH, Gthr, Refetoff syndrome, THRB

1 clinical trial for this condition and its sub-types, 0 tagged with Thyroid hormone resistance, generalized, autosomal recessive itself.

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↑ Generalized resistance to thyroid hormone (2) ↑ Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta (2)

Including sub-types (1) Tagged with Thyroid hormone resistance, generalized, autosomal recessive (0)

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