Thyroid Dyshormonogenesis 1; Tdh1

Description

Approximately 10% of patients with congenital hypothyroidism harbor inborn errors of metabolism in one of the steps for thyroid hormone synthesis in thyrocytes (Vono-Toniolo et al., 2005). Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see {188540}) stimulation.Park and Chatterjee (2005) reviewed the genetics of primary congenital hypothyroidism, summarizing the different phenotypes associated with known genetic defects and proposing an algorithm for investigating the genetic basis of the disorder. Genetic Heterogeneity of Thyroid DyshormonogenesisOther forms of thyroid hormone dysgenesis include TDH2A (OMIM ), caused by mutation in the thyroid peroxidase gene (TPO ) on 2p25; Pendred syndrome, a form of thyroid hormone dysgenesis associated with deafness (TDH2B ) and caused by mutation in the SLC26A4 gene (OMIM ) on 7q31; TDH3 (OMIM ), caused by mutation in the thyroglobulin gene (TG ) on 8q24; TDH4 (OMIM ), caused by mutation in the iodotyrosine deiodinase gene (IYD ) on 6q25; TDH5 (OMIM ), caused by mutation in the DUOXA2 gene (OMIM ) on 15q21; and TDH6 (OMIM ), caused by mutation in the DUOX2 gene (OMIM ) on 15q21.

Clinical Features

Top most frequent phenotypes and symptoms related to Thyroid Dyshormonogenesis 1; Tdh1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscular hypotonia
  • Neoplasm
  • Fatigue
  • Constipation
  • Coarse facial features
  • Hypothyroidism
And another 14 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 Dyshormonogenesis 1; Tdh1 have a estimated incidence of 2.67 per 100k in Europe.


Mendelian

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Thyroid Dyshormonogenesis 1; Tdh1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Hypothyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC26A4, IYD, TSHR, PROP1, POU1F1, KMT2D, SLC16A2, KDM6A, NKX2-1, THRB, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5 , (...)

View the complete list with 2 more genes
Specificity
28 %
Genes
100 %
Congenital Hypothyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC26A4, IYD, TSHR, PROP1, POU1F1, KMT2D, SLC16A2, KDM6A, NKX2-1, THRB, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5 , (...)

View the complete list with 2 more genes
Specificity
28 %
Genes
100 %
TG mutation analysis.

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

TG
Specificity
100 %
Genes
17 %
TG. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TG
Specificity
100 %
Genes
17 %
Thyroid dyshormonogenesis 3 (sequence analysis of TG gene).

By CGC Genetics in Portugal.

TG
Specificity
100 %
Genes
17 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, GLIS3, UBR1, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2 , (...)

View the complete list with 6 more genes
Specificity
24 %
Genes
100 %
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TG Gene.

By PreventionGenetics PreventionGenetics in United States.

TG
Specificity
100 %
Genes
17 %
Thyroid dyshormonogenesis 3.

By Centogene AG - the Rare Disease Company in Germany.

TG
Specificity
100 %
Genes
17 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
17 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
84 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
84 %
Single gene testing TG.

By CeGaT GmbH in Germany.

TG
Specificity
100 %
Genes
17 %
Hypothyroidism and Thyroid Hormone Resistance.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC26A4, SECISBP2, HESX1, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG , (...)

View the complete list with 1 more genes
Specificity
29 %
Genes
100 %
Thyroid Dyshormonogenesis.

By Asper Biogene Asper Biogene LLC in Estonia.

IYD, DUOXA2, DUOX2, SLC5A5, TPO, TG
Specificity
100 %
Genes
100 %
Hypothyroidism, Congenital: TG gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TG
Specificity
100 %
Genes
17 %
CONGENITAL HYPOTHYROIDISM.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG , (...)

View the complete list with 2 more genes
Specificity
28 %
Genes
100 %
Thyroid dyshormonogenesis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SLC26A4, SECISBP2, IYD, TSHR, SLC16A2, THRB, DUOXA2, DUOX2, SLC5A5, TG
Specificity
50 %
Genes
84 %
TG.

By Fulgent Genetics Fulgent Genetics in United States.

TG
Specificity
100 %
Genes
17 %
Hypothyroidism and Resistance to Thyroid Hormone Panel.

By Blueprint Genetics in Finland.

SLC26A4, SECISBP2, HESX1, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, IGSF1, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO , (...)

View the complete list with 1 more genes
Specificity
24 %
Genes
84 %
Familial thyroid dyshormonogenesis type 3.

By Bioarray in Spain.

TG
Specificity
100 %
Genes
17 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
5 %
Genes
67 %
CONGENITAL HYPOTHYROIDISM.

By Laboratorio de Genetica Clinica SL in Spain.

IYD, TSHR, TSHB, THRA, DUOXA2, SLC5A5, TPO, TG
Specificity
63 %
Genes
84 %
CONGENITAL HYPOTHYROIDISM – NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

SLC26A4, IYD, TSHR, NKX2-1, NKX2-5, PAX8, TSHB, THRA, DUOXA2, DUOX2, FOXE1, SLC5A5, TPO, TG
Specificity
43 %
Genes
100 %
Familial Thyroid Dyshormonogenesis Type 3, Sequencing TG Gene.

By Reference Laboratory Genetics in Spain.

TG
Specificity
100 %
Genes
17 %
Familial Thyroid Dyshormogenesis , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

SLC26A4, SECISBP2, IYD, TSHR, SLC16A2, THRB, DUOXA2, DUOX2, SLC5A5, TG
Specificity
50 %
Genes
84 %
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes.

By Reference Laboratory Genetics in Spain.

SLC26A4, SECISBP2, IYD, TSHR, PROP1, POU1F1, SLC16A2, NKX2-1, NKX2-5, THRB, GNAS, PAX8, TSHB, THRA, DUOXA2, FOXE1, SLC5A5, TPO, TG
Specificity
27 %
Genes
84 %
Congenital hypothyroidism: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TSHR, THRB, PAX8, TSHB, THRA, DUOX2, SLC5A5, TPO, TG
Specificity
45 %
Genes
67 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
4 %
Genes
67 %
Susceptibility to autoimmune thyroid disease Type III: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TG
Specificity
100 %
Genes
17 %
Thyroid dyshormonogenesis 3: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TG
Specificity
100 %
Genes
17 %
TPO mutation analysis.

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

TPO
Specificity
100 %
Genes
17 %
TPO. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TPO
Specificity
100 %
Genes
17 %
Thyroid dyshormonogenesis 2A (sequence analysis of TPO gene).

By CGC Genetics in Portugal.

TPO
Specificity
100 %
Genes
17 %
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TPO Gene.

By PreventionGenetics PreventionGenetics in United States.

TPO
Specificity
100 %
Genes
17 %
Thyroid dyshormonogenesis 2A.

By Centogene AG - the Rare Disease Company in Germany.

TPO
Specificity
100 %
Genes
17 %
TPO.

By Innovagenomics Innovagenomics S.L in Spain.

TPO
Specificity
100 %
Genes
17 %
Thyroid dyshormonogenesis 2A.

By Praxis fuer Humangenetik Wien in Austria.

TPO
Specificity
100 %
Genes
17 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
2 %
Genes
67 %
Thyroid dyshormonogenesis 2A.

By MedGene in Slovakia.

TPO
Specificity
100 %
Genes
17 %
Hypothyroidism, Congenital: TPO gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TPO
Specificity
100 %
Genes
17 %
TPO.

By Fulgent Genetics Fulgent Genetics in United States.

TPO
Specificity
100 %
Genes
17 %
Familial thyroid dyshormonogenesis type 2A.

By Bioarray in Spain.

TPO
Specificity
100 %
Genes
17 %
Familial Thyroid Dyshormonogenesis Type 2A , Sequencing TPO Gene.

By Reference Laboratory Genetics in Spain.

TPO
Specificity
100 %
Genes
17 %
Familial Thyroid Dyshormogenesis Type 2A, Deletions-Duplications (MLPA) TPO Gene.

By Reference Laboratory Genetics in Spain.

TPO
Specificity
100 %
Genes
17 %
Thyroid dyshormonogenesis 2A: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TPO
Specificity
100 %
Genes
17 %
DUOXA2 mutation analysis.

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

DUOXA2
Specificity
100 %
Genes
17 %
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via DUOXA2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DUOXA2
Specificity
100 %
Genes
17 %
Thyroid dyshormonogenesis type 5.

By Centogene AG - the Rare Disease Company in Germany.

DUOXA2
Specificity
100 %
Genes
17 %
Single gene testing DUOXA2.

By CeGaT GmbH in Germany.

DUOXA2
Specificity
100 %
Genes
17 %
DUOXA2.

By Fulgent Genetics Fulgent Genetics in United States.

DUOXA2
Specificity
100 %
Genes
17 %
Familial Thyroid Dyshormogenesis Type 5 , Sequencing DUOXA2 Gene.

By Reference Laboratory Genetics in Spain.

DUOXA2
Specificity
100 %
Genes
17 %
IYD Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IYD
Specificity
100 %
Genes
17 %
IYD Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IYD
Specificity
100 %
Genes
17 %
IYD Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

IYD
Specificity
100 %
Genes
17 %
IYD mutation analysis.

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

IYD
Specificity
100 %
Genes
17 %
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via IYD/DEHAL1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

IYD
Specificity
100 %
Genes
17 %
Thyroid dyshormonogenesis type 4.

By Centogene AG - the Rare Disease Company in Germany.

IYD
Specificity
100 %
Genes
17 %
Single gene testing IYD.

By CeGaT GmbH in Germany.

IYD
Specificity
100 %
Genes
17 %
IYD.

By Fulgent Genetics Fulgent Genetics in United States.

IYD
Specificity
100 %
Genes
17 %
Familial Thyroid Dyshormogenesis Type 4 , Sequencing IYD Gene.

By Reference Laboratory Genetics in Spain.

IYD
Specificity
100 %
Genes
17 %
SLC5A5 mutation analysis.

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

SLC5A5
Specificity
100 %
Genes
17 %
Thyroid dyshormonogenesis 1 (sequence analysis of SLC5A5 gene).

By CGC Genetics in Portugal.

SLC5A5
Specificity
100 %
Genes
17 %
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the SLC5A5/NIS Gene.

By PreventionGenetics PreventionGenetics in United States.

SLC5A5
Specificity
100 %
Genes
17 %
Single gene testing SLC5A5.

By CeGaT GmbH in Germany.

SLC5A5
Specificity
100 %
Genes
17 %
Thyroid Dyshomogenesis.

By Praxis fuer Humangenetik Wien in Austria.

SLC5A5
Specificity
100 %
Genes
17 %
Thyroid Dyshomogenesis.

By MedGene in Slovakia.

SLC5A5
Specificity
100 %
Genes
17 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
17 %
SLC5A5.

By Fulgent Genetics Fulgent Genetics in United States.

SLC5A5
Specificity
100 %
Genes
17 %
Familial Thyroid Dyshormogenesis Type 1 , Sequencing SLC5A5 Gene.

By Reference Laboratory Genetics in Spain.

SLC5A5
Specificity
100 %
Genes
17 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
3 %
Genes
34 %
Thyroid dyshormonogenesis 1: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SLC5A5
Specificity
100 %
Genes
17 %
DUOX2 mutation analysis.

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

DUOX2
Specificity
100 %
Genes
17 %
Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 Gene.

By PreventionGenetics PreventionGenetics in United States.

DUOX2
Specificity
100 %
Genes
17 %
Single gene testing DUOX2.

By CeGaT GmbH in Germany.

DUOX2
Specificity
100 %
Genes
17 %
DUOX2.

By Fulgent Genetics Fulgent Genetics in United States.

DUOX2
Specificity
100 %
Genes
17 %
Familial Thyroid Dyshormogenesis Type 6 , Sequencing DUOX2 Gene.

By Reference Laboratory Genetics in Spain.

DUOX2
Specificity
100 %
Genes
17 %
Thryoid dyshormonogenesis 6: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

DUOX2
Specificity
100 %
Genes
17 %

Alternate names

Thyroid Dyshormonogenesis 1; Tdh1 Is also known as thyroid hormonogenesis, genetic defect in, 1, hypothyroidism, congenital, due to dyshormonogenesis, 1, iodine accumulation, transport, or trapping defect;thyroid dyshormonogenesis.


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