Thyroid Hormone Resistance, Generalized, Autosomal Dominant; Grth

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 Hormone Resistance, Generalized, Autosomal Dominant; Grth Is also known as thyroid hormone unresponsiveness, gthr, hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones.

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.

Thyroid Hormone Resistance, Generalized, Autosomal Dominant; Grth Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Thyroid Hormone Resistance. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). THRB 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 Panel complete gene list SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1, PROP1 Close 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 Panel complete gene list SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1, PROP1 Close Specificity 5 % Genes 100 %
THRB mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). THRB Specificity 100 % Genes 100 %
THRB. Sequencing of the exons 7-10. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). THRB Specificity 100 % Genes 100 %
THRB. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). THRB Specificity 100 % Genes 100 %
Thyroid hormone resistance (deletion/duplication analysis of THRB gene). By CGC Genetics (Portugal). THRB Specificity 100 % Genes 100 %
Thyroid hormone resistance (deletion/duplication analysis of THRB gene). By CGC Genetics (Portugal). THRB Specificity 100 % Genes 100 %

Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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