Peripheral Resistance To Thyroid Hormones

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.

Genes related to Peripheral Resistance To Thyroid Hormones

THRB
THRA

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Clinical Features

Top most frequent phenotypes and symptoms related to Peripheral Resistance To Thyroid Hormones

Muscular hypotonia
Feeding difficulties
Constipation
Hypothyroidism
Coarse facial features
Umbilical hernia
Jaundice
Sleep disturbance
Abdominal distention
Macroglossia

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available PERIPHERAL RESISTANCE TO THYROID HORMONES have a estimated prevalence of 2.5 per 100k worldwide.
— No data available about the known clinical features onset.

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.

Peripheral Resistance To Thyroid Hormones 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 50 %
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 Specificity 10 % 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 Specificity 10 % Genes 100 %
THRB mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). THRB Specificity 100 % Genes 50 %
THRB. Sequencing of the exons 7-10. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). THRB Specificity 100 % Genes 50 %
THRB. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). THRB Specificity 100 % Genes 50 %
Thyroid hormone resistance (deletion/duplication analysis of THRB gene). By CGC Genetics (Portugal). THRB Specificity 100 % Genes 50 %
Thyroid hormone resistance (deletion/duplication analysis of THRB gene). By CGC Genetics (Portugal). THRB Specificity 100 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

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