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
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
Search interest in TPO
Potential gene panels for TPO gene
Congenital Hypothyroidism Deletion/Duplication Panel Panel
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 panelCongenital Hypothyroidism Sequencing Panel Panel
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 panelTPO mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the TPO gene.
More info about this panelTPO. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TPO gene.
More info about this panelThyroid dyshormonogenesis 2A (sequence analysis of TPO gene) Panel
By CGC Genetics
This panel specifically test the TPO gene.
More info about this panelCongenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection Panel
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 panelCongenital Hypothyroidism (Thyroid Dyshormonogenesis) via TPO Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the TPO gene.
More info about this panelThyroid dyshormonogenesis 2A Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TPO gene.
More info about this panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelTPO Panel
By Innovagenomics Innovagenomics S.L
This panel specifically test the TPO gene.
More info about this panelHypothyroidism and Thyroid Hormone Resistance Panel
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 panelThyroid Dyshormonogenesis Panel
By Asper Biogene Asper Biogene LLC Thyroid Dyshormonogenesis that also includes the following genes: SLC5A5 TG TPO DUOX2 IYD DUOXA2
More info about this panelThyroid dyshormonogenesis 2A Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the TPO gene.
More info about this panelqCarrier Plus Panel
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 panelThyroid dyshormonogenesis 2A Panel
By MedGene
This panel specifically test the TPO gene.
More info about this panelHypothyroidism, Congenital: TPO gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TPO gene.
More info about this panelCONGENITAL HYPOTHYROIDISM Panel
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 panelTPO Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TPO gene.
More info about this panelHypothyroidism and Resistance to Thyroid Hormone Panel Panel
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 panelFamilial thyroid dyshormonogenesis type 2A Panel
By Bioarray
This panel specifically test the TPO gene.
More info about this panelBaby Genes Targeted Panel Panel
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 panelCONGENITAL HYPOTHYROIDISM Panel
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 panelCONGENITAL HYPOTHYROIDISM – NGS PANEL Panel
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 panelFamilial Thyroid Dyshormonogenesis Type 2A , Sequencing TPO Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TPO gene.
More info about this panelFamilial Thyroid Dyshormogenesis Type 2A, Deletions-Duplications (MLPA) TPO Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TPO gene.
More info about this panelCongenital Hypothyroidism , Panel Massive Sequencing 20 Genes Panel
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 panelCongenital hypothyroidism: gene sequencing panel (RAPID testing) Panel
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 panelCEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
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 panelThyroid dyshormonogenesis 2A: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TPO gene.
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