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.
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
Search interest in THRA
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 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.
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 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 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 United States.
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 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.
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.
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.
THRA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the THRA 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.
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 United States.
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 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.
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 Spain.
Congenital Hypothyroidism, Sequencing THRA Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the THRA 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.
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 Canada.
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