Thyroid Hypoplasia

Description

Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Clinical Features

Top most frequent phenotypes and symptoms related to Thyroid Hypoplasia

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscular hypotonia
  • Fatigue
  • Intellectual disability, severe
  • Constipation
  • Hypothyroidism
  • Coarse facial features
  • Jaundice

And another 5 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 THYROID HYPOPLASIA have a estimated prevalence of 3.5 per 100k in Europe.
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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Thyroid Hypoplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
67 %
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
67 %
Congenital Nongoitrous Hypothyroidism 2.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States).

PAX8
Specificity
100 %
Genes
34 %
PAX8 mutation analysis.

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

PAX8
Specificity
100 %
Genes
34 %
Congenital Hypothyroidism (Thyroid Dysgenesis) via PAX8 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

PAX8
Specificity
100 %
Genes
34 %
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
9 %
Genes
67 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center (Germany).

ROBO2, SALL1, BLK, BMP4, BMP7, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC3A1, SLC7A9, SMARCAL1, HNF1A, HNF1B, KLF11, TRPC6, TSC1, TSC2, UMOD , (...)

View the complete list with 95 more genes
Specificity
1 %
Genes
34 %
Hypothyroidism congenital nongoitrous type 2.

By Centogene AG - the Rare Disease Company (Germany).

PAX8
Specificity
100 %
Genes
34 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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