TPO gene related symptoms and diseases

All the information presented here about the TPO gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TPO gene

Symptoms // Phenotype % Cases
Goiter Very Common - Between 80% and 100% cases
Congenital hypothyroidism Very Common - Between 80% and 100% cases
Hypothyroidism Very Common - Between 80% and 100% cases
Abnormality of metabolism/homeostasis Uncommon - Between 30% and 50% cases
Jaundice Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TPO gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Ectopic thyroid
  • Hypersomnia
  • Oligodontia
  • Large fontanelles
  • Abnormality of the face
  • Macroglossia
  • Abdominal distention
  • Dry skin

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TPO gene

Here you will find a list of rare diseases related to the TPO. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


THYROID DYSHORMONOGENESIS 2A; TDH2A

Alternate names

THYROID DYSHORMONOGENESIS 2A; TDH2A Is also known as thyroid hormonogenesis, genetic defect in, 2a, thyroid peroxidase deficiency, hypothyroidism, congenital, due to dyshormonogenesis, 2a, iodide peroxidase deficiency

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). The most prevalent cause of thyroid dyshormonogenesis is TPO deficiency (Park and Chatterjee, 2005). Defects in TPO cause a severe form of congenital hypothyroidism characterized by a complete and immediate release of accumulated radioiodide from the thyroid after sodium perchlorate administration (Bakker et al., 2000). This release of radioiodide represents total iodine organification defect (TIOD), a disruption of the process by which iodide present in the thyroid is oxidized by hydrogen peroxide and bound to tyrosine residues in thyroglobulin (TG ) to form iodotyrosine.

Most common symptoms of THYROID DYSHORMONOGENESIS 2A; TDH2A

  • Abnormality of metabolism/homeostasis
  • Hypothyroidism
  • Goiter
  • Congenital hypothyroidism
  • Thyroid defect in oxidation and organification of iodide


More info about THYROID DYSHORMONOGENESIS 2A; TDH2A

SOURCES: OMIM MESH

FAMILIAL THYROID DYSHORMONOGENESIS

Alternate names

FAMILIAL THYROID DYSHORMONOGENESIS Is also known as iodine accumulation, transport, or trapping defect, thyroid hormonogenesis, genetic defect in, 1, thyroid dyshormonogenesis, hypothyroidism, congenital, due to dyshormonogenesis, 1

Description

Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.

Most common symptoms of FAMILIAL THYROID DYSHORMONOGENESIS

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


More info about FAMILIAL THYROID DYSHORMONOGENESIS

SOURCES: ORPHANET OMIM


Potential gene panels for TPO gene

Congenital Hypothyroidism Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Hypothyroidism Deletion/Duplication Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB KDM6A DUOX2

More info about this panel
United States.

Congenital Hypothyroidism Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Hypothyroidism Sequencing Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB KDM6A DUOX2

More info about this panel
United States.

TPO mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the TPO gene.

More info about this panel
Netherlands.

TPO. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TPO gene.

More info about this panel
Spain.

Thyroid dyshormonogenesis 2A (sequence analysis of TPO gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TPO gene.

More info about this panel
Portugal.

Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TRH TSHB DUOX2

More info about this panel
United States.

Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via TPO Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TPO gene.

More info about this panel
United States.

Thyroid dyshormonogenesis 2A Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TPO gene.

More info about this panel
Germany.

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel
Germany.

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel
Germany.

TPO Panel

Spain.

By Innovagenomics Innovagenomics S.L

This panel specifically test the TPO gene.

More info about this panel
Spain.

Hypothyroidism and Thyroid Hormone Resistance Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hypothyroidism and Thyroid Hormone Resistance that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD

More info about this panel
Estonia.

Thyroid Dyshormonogenesis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Thyroid Dyshormonogenesis that also includes the following genes: SLC5A5 TG TPO DUOX2 IYD DUOXA2

More info about this panel
Estonia.

Thyroid dyshormonogenesis 2A Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the TPO gene.

More info about this panel
Austria.

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel
Spain.

Thyroid dyshormonogenesis 2A Panel

Slovakia.

By MedGene

This panel specifically test the TPO gene.

More info about this panel
Slovakia.

Hypothyroidism, Congenital: TPO gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TPO gene.

More info about this panel
Spain.

CONGENITAL HYPOTHYROIDISM Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CONGENITAL HYPOTHYROIDISM that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD

More info about this panel
Spain.

TPO Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TPO gene.

More info about this panel
United States.

Hypothyroidism and Resistance to Thyroid Hormone Panel Panel

Finland.

By Blueprint Genetics Hypothyroidism and Resistance to Thyroid Hormone Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 NKX2-5

More info about this panel
Finland.

Familial thyroid dyshormonogenesis type 2A Panel

Spain.

By Bioarray

This panel specifically test the TPO gene.

More info about this panel
Spain.

Baby Genes Targeted Panel Panel

United States.

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel
United States.

CONGENITAL HYPOTHYROIDISM Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HYPOTHYROIDISM that also includes the following genes: SLC5A5 TG THRA TPO TSHB DUOX2 IYD DUOXA2

More info about this panel
Spain.

CONGENITAL HYPOTHYROIDISM – NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HYPOTHYROIDISM – NGS PANEL that also includes the following genes: SLC5A5 TG THRA NKX2-1 TPO TSHB DUOX2 IYD NKX2-5 DUOXA2

More info about this panel
Spain.

Familial Thyroid Dyshormonogenesis Type 2A , Sequencing TPO Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TPO gene.

More info about this panel
Spain.

Familial Thyroid Dyshormogenesis Type 2A, Deletions-Duplications (MLPA) TPO Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TPO gene.

More info about this panel
Spain.

Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB IYD NKX2-5

More info about this panel
Spain.

Congenital hypothyroidism: gene sequencing panel (RAPID testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Congenital hypothyroidism: gene sequencing panel (RAPID testing) that also includes the following genes: SLC5A5 TG THRA THRB TPO TSHB DUOX2 PAX8

More info about this panel
Canada.

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel
Canada.

Thyroid dyshormonogenesis 2A: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the TPO gene.

More info about this panel
Canada.

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