Thyroid Dyshormonogenesis 4; Tdh4

Description

Presumed loss-of-function mutation(s) in the IYD gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase.

Clinical Features

Phenotypes and symptoms related to Thyroid Dyshormonogenesis 4; Tdh4

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypothyroidism
  • Goiter
  • Congenital hypothyroidism

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Thyroid Dyshormonogenesis 4; Tdh4 Is also known as hypothyroidism, congenital, due to dyshormonogenesis, 4, thyroid hormonogenesis, genetic defect in, 4, iodotyrosine dehalogenase deficiency, deiodinase 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 4; Tdh4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
IYD Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IYD
Specificity
100 %
Genes
100 %
IYD Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IYD
Specificity
100 %
Genes
100 %
IYD Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IYD
Specificity
100 %
Genes
100 %
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 %
IYD mutation analysis.

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

IYD
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 IYD/DEHAL1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

IYD
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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