Thyroid Dyshormonogenesis 1 (TDH1)

Alias:

Tdh1

Genetic Defect in Thyroid Hormonogenesis 1

Congenital Hypothyroidism Due to Dyshormonogenesis Type 1

Hypothyroidism, Congenital, Due to Dyshormonogenesis, 1

Iodine Accumulation, Transport, or Trapping Defect

Iodide Accumulation, Transport, or Trapping Defect

Iodine Accumulation, Transport or Trapping Defect

Thyroid Hormonogenesis, Genetic Defect in, 1

Familial Thyroid Dyshormonogenesis 1

Thyroid Dyshormonogenesis, Type 1

Chdh1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Thyroid Dyshormonogenesis 1, also known as tdh1, is related to pendred syndrome and thyroid dyshormonogenesis 3, and has symptoms including constipation and dry skin. An important gene associated with Thyroid Dyshormonogenesis 1 is SLC5A5 (Solute Carrier Family 5 Member 5), and among its related pathways/superpathways is Metabolism of amine-derived hormones. Affiliated tissues include thyroid and skin, and related phenotypes are intellectual disability and constipation

Related ID：

MALACARDS：THY071

OMIM：274400

MESH：C564766