THRA gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to THRA gene

Symptoms // Phenotype % Cases
Hypothyroidism Very Common - Between 80% and 100% cases
Macroglossia Very Common - Between 80% and 100% cases
Constipation Very Common - Between 80% and 100% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Drowsiness Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Hoarse voice
  • Increased body weight
  • Congenital hip dislocation
  • Wormian bones
  • Coxa vara
  • Hypercholesterolemia
  • Relative macrocephaly
  • Congenital hypothyroidism

And 39 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to THRA gene

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


HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Most common symptoms of HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

SOURCES: OMIM

PERIPHERAL RESISTANCE TO THYROID HORMONES


Description

Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth.

Most common symptoms of PERIPHERAL RESISTANCE TO THYROID HORMONES

  • Muscular hypotonia
  • Feeding difficulties
  • Constipation
  • Hypothyroidism
  • Coarse facial features


More info about PERIPHERAL RESISTANCE TO THYROID HORMONES

SOURCES: ORPHANET


Potential gene panels for THRA 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

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

Hypothyroidism congenital nongoitrous 6 (sequence analysis of THRA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the THRA gene.

More info about this panel

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

Congenital Hypothyroidism (Thyroid Hormone Resistance) via THRA Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the THRA gene.

More info about this panel

Hypothyroidism congenital nongoitrous type 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the THRA gene.

More info about this panel

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

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

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

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

THRA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the THRA gene.

More info about this panel

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

Congenital Hypothyroidism, Nongoitrous NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Congenital Hypothyroidism, Nongoitrous NGS and Deletion/Duplication Panel that also includes the following genes: THRA TSHB NKX2-5 PAX8

More info about this panel

THRA Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the THRA gene.

More info about this panel

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

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

THYROID HORMONE RESISTANCE Panel

Spain.

By Laboratorio de Genetica Clinica SL THYROID HORMONE RESISTANCE that also includes the following genes: THRA THRB

More info about this panel

Congenital Hypothyroidism, Sequencing THRA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the THRA gene.

More info about this panel

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

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

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

Congenital nongoitrous hypothyroidism 6: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the THRA gene.

More info about this panel


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