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GTR Home > Conditions/Phenotypes > Thyroid hormone resistance, generalized, autosomal recessive

Thyroid hormone resistance, generalized, autosomal recessive

Synonyms
REFETOFF SYNDROME

Summary

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. [from MONDO]

Available tests

19 tests are in the database for this condition.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C-ERBA-2, C-ERBA-BETA, ERBA2, GRTH, NR1A2, PRTH, THR1, THRB1, THRB2, THRbeta, THRbeta1, TRb, TRbeta, TRbeta1, Thrbeta2, THRB
    Summary: thyroid hormone receptor beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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