Hypothyroidism, Congenital, Nongoitrous, 2; Chng2

Description

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypothyroidism, Congenital, Nongoitrous, 2; Chng2

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia
  • Delayed skeletal maturation
  • Constipation
  • Hypothyroidism
  • Umbilical hernia
  • Carcinoma

And another 23 symptoms. If you need more information about this disease we can help you.

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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

Hypothyroidism, Congenital, Nongoitrous, 2; Chng2 Is also known as rtsh, thyroid agenesis, thyrotropin resistance, resistance to thyrotropin, thyroid, ectopic, hypothyroidism, athyreotic, athyreotic hypothyroidism, hypothyroidism, congenital, due to thyroid dysgenesis, thyroid hypoplasia, thyroid dysgenesis.

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, Congenital, Nongoitrous, 2; Chng2 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
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
Specificity
5 %
Genes
100 %
Congenital Nongoitrous Hypothyroidism 2.

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

PAX8
Specificity
100 %
Genes
100 %
PAX8 mutation analysis.

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

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

By PreventionGenetics PreventionGenetics (United States).

PAX8
Specificity
100 %
Genes
100 %
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
5 %
Genes
100 %
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
100 %
Hypothyroidism congenital nongoitrous type 2.

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

PAX8
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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