Thyroid Dyshormonogenesis 2a; Tdh2a

Description

Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency (Park and Chatterjee, 2005). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration (Bakker et al., 2000). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG ) to form iodotyrosine.

Clinical Features

Phenotypes and symptoms related to Thyroid Dyshormonogenesis 2a; Tdh2a

  • Abnormality of metabolism/homeostasis
  • Hypothyroidism
  • Goiter
  • Congenital hypothyroidism
  • Thyroid defect in oxidation and organification of iodide

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 2a; Tdh2a Is also known as thyroid hormonogenesis, genetic defect in, 2a, thyroid peroxidase deficiency, hypothyroidism, congenital, due to dyshormonogenesis, 2a, iodide peroxidase deficiency.

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 2a; Tdh2a 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 %
TPO mutation analysis.

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

TPO
Specificity
100 %
Genes
100 %
TPO. Complete sequencing.

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

TPO
Specificity
100 %
Genes
100 %
Thyroid dyshormonogenesis 2A (sequence analysis of TPO gene).

By CGC Genetics (Portugal).

TPO
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 TPO Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TPO
Specificity
100 %
Genes
100 %
Thyroid dyshormonogenesis 2A.

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

TPO
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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