congenital hypothyroidism, non-goitrous, type 6

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congenital hypothyroidism, non-goitrous, type 6

An extremely rare disease (OMIM:614450) characterised by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. The condition is remarkable for differential sensitivity to thyroid hormone: responsiveness is retained in the hypothalamic pituitary axis and liver, while skeletal, gastrointestinal and myocardial tissues show resistance to the hormone.

Molecular pathology
Caused by defects of THRA, which encodes high-affinity nuclear hormone receptor for triiodothyronine.