Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyroid dyshormonogenesis 3

Thyroid dyshormonogenesis 3 is an autosomal recessive disorder of thyroid hormone production characterized by insufficient plasma hormone levels and goiter. It is caused by mutations of the TG gene.

Systematic

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

References:

1.

Baas F et al. (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.

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2.

Gutnisky VJ et al. (2004) Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.

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3.

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

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4.

Hishinuma A et al. (2005) High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations.

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5.

Alzahrani AS et al. (2006) Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene.

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6.

Kitanaka S et al. (2006) A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.

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7.

Hishinuma A et al. (2006) Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.

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8.

Kanou Y et al. (2007) Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.

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9.

Ieiri T et al. (1991) A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.

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10.

Targovnik H et al. (1989) Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.

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11.

None (1987) Merging autosomal dominance and recessivity.

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12.

Lever EG et al. (1983) Inherited disorders of thyroid metabolism.

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13.

Cooper DS et al. (1981) Congenital goiter and the development of metastatic follicular carcinoma with evidence for a leak of nonhormonal iodide: clinical, pathological, kinetic, and biochemical studies and a review of the literature.

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14.

Yoshida S et al. (1996) A variant of adenomatous goiter with characteristic histology and possible hereditary thyroglobulin abnormality.

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15.

Medeiros-Neto G et al. (1997) Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis.

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16.

MICHEL R et al. (1964) THYROIDAL IODOPROTEINS IN PATIENTS WITH GOITROUS HYPOTHYROIDISM.

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17.

Van Voorthuizen WF et al. (1978) Abnormal cellular localization of thyroglobulin mRNA associated with hereditary congenital goiter and thyroglobulin deficiency.

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18.

Lissitzky S et al. (1975) Defective thyroglobulin export as a cause of congenital goitre.

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19.

Lissitzky S et al. (1967) Congenital goiter with hypothyroidism and iodo-serum albumin replacing thyroglobulin.

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20.

None (1972) A goitrous subject with structural abnormality of thyroglobulin.

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21.

Falconer IR et al. (1970) Studies on the congenitally goitrous sheep. Iodoproteins of the goitre.

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22.

OMIM.ORG article

Omim 274700 [^]
Update: April 29, 2019