Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function

Description

Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Muscular hypotonia
  • Feeding difficulties
  • Fatigue
  • Constipation
  • Hypothyroidism
  • Coarse facial features
  • Umbilical hernia

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
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.


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Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PROP1 (CPHD) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

POU1F1
Specificity
100 %
Genes
20 %
Combined Pituitary Hormone Deficiency Evaluation.

By Athena Diagnostics Inc (United States).

POU1F1, PROP1
Specificity
100 %
Genes
40 %
POU1F1-Related Combined Pituitary Hormone Deficiency.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

POU1F1
Specificity
100 %
Genes
20 %
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
40 %
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
40 %
POU1F1 mutation analysis.

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

POU1F1
Specificity
100 %
Genes
20 %
POU1F1. Complete sequencing.

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

POU1F1
Specificity
100 %
Genes
20 %
Pituitary hormone deficiency, combined, 1 (sequence analysis of POU1F1 gene).

By CGC Genetics (Portugal).

POU1F1
Specificity
100 %
Genes
20 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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