Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta

Orpha code: 566243OMIM code: 274300

Definicja

A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.

Disease data
Klasyfikacja

Disease

Synonimy
RTHb
Oporność na hormon tarczycy beta
Oporność na hormon tarczycy z powodu mutacji w TRb
Resistance to thyroid hormone beta
Resistance to thyroid hormone due to a mutation in TRb
Kod ORPHA
566243
Kod OMIM
274300
Kod ICD10
E07.8
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl