Peripheral Resistance To Thyroid Hormones

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.

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.

Click here to know more about Mendelian.

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
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
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 %

You can get up to 44 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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