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hypothyroidism due to TSH receptor mutations

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Mondo Description Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
Uniprot Description A non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland.
Mondo Term and Equivalent IDs
MONDO:0010142:  hypothyroidism due to TSH receptor mutations
Orphanet:90673: 
UMLS:C3493776: 
UMLS:CN206435: