Athyreosis

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Athyreosis

FOXE1
TSHR
NKX2-1
NKX2-5
PAX8
SLC26A4

View recommended genes panels

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.

Click here to know more about Mendelian.

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

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 Panel complete gene list SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1, PROP1 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 Panel complete gene list SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1, PROP1 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 Panel complete gene list SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TRH, TSHB, DUOX2, UBR1, IYD, NKX2-5, GLIS3, SECISBP2, DUOXA2, FOXE1, GNAS, HESX1, IGSF1, PAX8, SLC26A4, POU1F1, PROP1 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 %