Thyroid Dyshormonogenesis 3; Tdh3

Description

Kanou et al. (2007) reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the disorder in the majority of patients causes large goiters of elastic and soft consistency. Although the degree of thyroid dysfunction varies considerably among patients with defective TG synthesis, patients usually have a relatively high serum free T3 concentration with disproportionately low free T4 level. The maintenance of relatively high FT3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.

Clinical Features

Top most frequent phenotypes and symptoms related to Thyroid Dyshormonogenesis 3; Tdh3

  • Intellectual disability
  • Neoplasm
  • Pain
  • Hypothyroidism
  • Carcinoma
  • Aspiration
  • Goiter
  • Abnormality of the thyroid gland
  • Thyroid carcinoma
  • Follicular thyroid carcinoma

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Thyroid Dyshormonogenesis 3; Tdh3 Is also known as thyroid hormonogenesis, genetic defect in, 3, hypothyroidism, congenital, due to dyshormonogenesis, 3.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Thyroid Dyshormonogenesis 3; Tdh3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Hypothyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Congenital Hypothyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
TG mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

TG
Specificity
100 %
Genes
100 %
TG. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TG
Specificity
100 %
Genes
100 %
Thyroid dyshormonogenesis 3 (sequence analysis of TG gene).

By CGC Genetics (Portugal).

TG
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TRH, TSHB, DUOX2, UBR1, IYD, NKX2-5, GLIS3, SECISBP2, DUOXA2, FOXE1, GNAS, HESX1, IGSF1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via TG Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TG
Specificity
100 %
Genes
100 %
Thyroid dyshormonogenesis 3.

By Centogene AG - the Rare Disease Company (Germany).

TG
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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