Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyroid dyshormonogenesis 6

Thyroid dyshormonogenesis 6 is an autosomal recessive disorder of thyroid hormone production characterized by insufficient plasma hormone levels and goiter. It is caused by mutations of the DUOX2 gene.

Systematic

Thyroid dyshormonogenesis
Pendred syndrome
Thyroid dyshormonogenesis 1
Thyroid dyshormonogenesis 2a
Thyroid dyshormonogenesis 3
Thyroid dyshormonogenesis 4
Thyroid dyshormonogenesis 5
Thyroid dyshormonogenesis 6
DUOX2

References:

1.

Park SM et al. (2005) Genetics of congenital hypothyroidism.

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2.

Moreno JC et al. (2002) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

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3.

Vigone MC et al. (2005) Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

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4.

OMIM.ORG article

Omim 607200 [^]
Update: April 29, 2019