Athyreosis

Description

Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue 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 Athyreosis

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Feeding difficulties
  • Fatigue
  • Intellectual disability, severe
  • Constipation
  • Hypothyroidism

And another 7 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 Athyreosis have a estimated prevalence of 3.5 per 100k worldwide.
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Athyreosis extracted from public data.

Athyreosis Experts map



Current Researchs and researchers

  • MONTRÉAL — Dr Johnny DELADOËY

    Investigator of research project

    • Institution/s:
      — Département de pédiatrie et biochimie, Centre hospitalier universitaire Sainte-Justine
    • Research area/topic::

      Abnormal Thyroid Development: a Model Disorder for Congenital Malformations and Neurocognitive Development


  • MONTRÉAL — Dr Guy VAN VLIET

    Investigator of research project

    • Institution/s:
      — Département de pédiatrie et biochimie, Centre hospitalier universitaire Sainte-Justine
    • Research area/topic::

      Abnormal Thyroid Development: a Model Disorder for Congenital Malformations and Neurocognitive Development



Mendelian

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Athyreosis 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
20 %
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
20 %
Genes
67 %
FOXE1 mutation analysis.

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

FOXE1
Specificity
100 %
Genes
17 %
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
21 %
Genes
84 %
Bamforth-Lazarus Syndrome via FOXE1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

FOXE1
Specificity
100 %
Genes
17 %
Cleft lip, cleft palate and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
17 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
17 %
Cleft lip, cleft palate and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
17 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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