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ENThyroid Dyshormonogenesis 4 (TDH4)
Alias:
Iodotyrosine Dehalogenase Deficiency
Deiodinase Deficiency
Tdh4
Congenital Hypothyroidism Due to Dyshormonogenesis Type 4
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 4
Genetic Defect in Thyroid Hormonogenesis Type 4
Thyroid Hormonogenesis, Genetic Defect in, 4
Genetic Defect in Thyroid Hormonogenesis 4
Thyroid Dyshormonogenesis, Type 4
Iodotyrosine Deiodination Defect
Chdh4
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Thyroid Dyshormonogenesis 4, also known as iodotyrosine dehalogenase deficiency, is related to hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency and hypothyroidism. An important gene associated with Thyroid Dyshormonogenesis 4 is IYD (Iodotyrosine Deiodinase), and among its related pathways/superpathways are Thyroid hormones production and peripheral downstream signaling effects and Metabolism of amine-derived hormones. Affiliated tissues include thyroid and bone, and related phenotypes are intellectual disability and hypothyroidism
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