Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyroid dyshormonogenesis 1

Thyroid dyshormonogenesis 1 is an autosomal recessive disorder of thyroid hormone production characterized by insufficient plasma hormone levels and goiter. It is caused by mutations of the SLC5A5 gene.

Systematic

Thyroid dyshormonogenesis
Pendred syndrome
Thyroid dyshormonogenesis 1
SLC5A5
Thyroid dyshormonogenesis 2a
Thyroid dyshormonogenesis 3
Thyroid dyshormonogenesis 4
Thyroid dyshormonogenesis 5
Thyroid dyshormonogenesis 6

References:

1.

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

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2.

Vono-Toniolo J et al. (2005) Naturally occurring mutations in the thyroglobulin gene.

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3.

Fujiwara H et al. (1997) Congenital hypothyroidism caused by a mutation in the Na+/I- symporter.

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4.

Kosugi S et al. (1998) Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.

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5.

Kempers MJ et al. (2009) Morphological abnormalities in children with thyroidal congenital hypothyroidism.

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6.

Toyoshima K et al. (1977) Five cases of absence of iodide concentrating mechanism.

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7.

Medeiros-Neto GA et al. (1972) Partial defect of iodide trapping mechanism in two siblings with congenital goiter and hypothyroidism.

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8.

STANBURY JB et al. (1960) Congenital hypothyroidism with goitre. Absence of an iodide-concentrating mechanism.

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9.

GILBOA Y et al. (1963) GOITROUS MYXEDEMA DUE TO IODIDE TRAPPING DEFECT.

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10.

OMIM.ORG article

Omim 274400 [^]
Update: April 29, 2019