U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Familial hyperthyroidism due to mutations in TSH receptor

Familial hyperthyroidism due to mutations in TSH receptor

Synonyms
HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE; HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOSOMAL DOMINANT; Hyperthyroidism, nonautoimmune; TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. [from ORDO]

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHNG1, LGR3, hTSHR-I, TSHR
    Summary: thyroid stimulating hormone receptor

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.