Familial hyperthyroidism due to mutations in TSH receptor

Orpha code: 424OMIM code: 609152

Definition

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.

Disease data
Classification

Disease

Synonyms
Familial non-immune hyperthyroidism
Rodzinna nieimmunologiczna nadczynność tarczycy
Resistance to thyroid stimulating hormone
ORPHA code
424
OMIM code
609152
ICD10 code
E05.8
ICD11 code
5A02.Y

No additional description.

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