THRB gene related symptoms and diseases
All the information presented here about the THRB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to THRB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Thyroid hormone receptor defect | Common - Between 50% and 80% cases |
| Goiter | Common - Between 50% and 80% cases |
| Hyperthyroidism | Uncommon - Between 30% and 50% cases |
| Jaundice | Uncommon - Between 30% and 50% cases |
| Hearing impairment | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with THRB gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Hypoxemia
- Chronic hemolytic anemia
- Hypochromic anemia
- Chronic myelogenous leukemia
- Microalbuminuria
- Abnormal hemoglobin
- Night sweats
- Abnormality of the spleen
And 88 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to THRB gene
Here you will find a list of rare diseases related to the THRB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GENERALIZED RESISTANCE TO THYROID HORMONE
Alternate names
GENERALIZED RESISTANCE TO THYROID HORMONE Is also known as deafness-thyroid hormone resistance syndrome, refetoff syndrome, gthr, thyroid hormone unresponsiveness
Most common symptoms of GENERALIZED RESISTANCE TO THYROID HORMONE
- Hearing impairment
- Sensorineural hearing impairment
- Delayed skeletal maturation
- Proptosis
- Pectus carinatum
More info about GENERALIZED RESISTANCE TO THYROID HORMONE
SICKLE CELL ANEMIA
Alternate names
SICKLE CELL ANEMIA Is also known as sickle cell disease
Description
Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.
Most common symptoms of SICKLE CELL ANEMIA
- Intellectual disability
- Pain
- Anemia
- Hypertension
- Hepatomegaly
More info about SICKLE CELL ANEMIA
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
PITUITARY RESISTANCE TO THYROID HORMONE
Alternate names
PITUITARY RESISTANCE TO THYROID HORMONE Is also known as selective pituitary resistance to thyroid hormone, prth, hyperthyroidism, familial, due to inappropriate thyrotropin secretion
Description
Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.
Most common symptoms of PITUITARY RESISTANCE TO THYROID HORMONE
- Goiter
- Hyperthyroidism
- Increased thyroid-stimulating hormone level
- Thyroid hormone receptor defect
More info about PITUITARY RESISTANCE TO THYROID HORMONE
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH
Alternate names
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH Is also known as thyroid hormone unresponsiveness, gthr, hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones
Description
Decreased response to thyroid hormones in peripheral tissues and in the pituitary gland.
Most common symptoms of THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH
- Delayed speech and language development
- Hyperactivity
- Attention deficit hyperactivity disorder
- Goiter
- Hyperthyroidism
More info about THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH
Search interest in THRB
Potential gene panels for THRB gene
Thyroid Hormone Resistance Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the THRB gene.
More info about this panel United States.
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.
THRB mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the THRB gene.
More info about this panel Netherlands.
THRB. Sequencing of the exons 7-10 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the THRB gene.
More info about this panel Spain.
THRB. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the THRB gene.
More info about this panel Spain.
Thyroid hormone resistance (deletion/duplication analysis of THRB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the THRB gene.
More info about this panel Portugal.
Thyroid hormone resistance (deletion/duplication analysis of THRB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the THRB gene.
More info about this panel Portugal.
Thyroid hormone resistance Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the THRB gene.
More info about this panel Germany.
Thyroid hormone resistance, autosomal recessive Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the THRB gene.
More info about this panel Germany.
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.
Thyroid Hormone Resistance via THRB Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the THRB gene.
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Thyroid Hormone Resistance Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the THRB gene.
More info about this panel Germany.
Thyroid hormone resistance Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the THRB gene.
More info about this panel Germany.
Single gene testing THRB Panel
Germany.
By CeGaT GmbH
This panel specifically test the THRB gene.
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.
Thyroid hormone resistance Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the THRB 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 hormone resistance Panel
Slovakia.
By MedGene
This panel specifically test the THRB gene.
More info about this panel Slovakia.
Thyroid hormone Resistance: THRB gene sequence analysis (exons 7-10) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the THRB gene.
More info about this panel Spain.
Thyroid hormone Resistance: THRB gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the THRB 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.
Thyroid dyshormonogenesis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Thyroid dyshormonogenesis that also includes the following genes: SLC16A2 SLC5A5 TG THRB DUOX2 IYD SECISBP2 DUOXA2 SLC26A4
More info about this panel Spain.
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
THRB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the THRB gene.
More info about this panel United States.
Resistance to Thyroid Hormone (RTH) Mutation Analysis Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the THRB 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.
Generalized resistance to thyroid hormone Panel
Spain.
By Bioarray
This panel specifically test the THRB gene.
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.
Autosomal Dominant Thyroid Hormone Resistance , Sequencing THRB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the THRB gene.
More info about this panel Spain.
Autosomal Recessive Thyroid Hormone Resistance , Sequencing THRB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the THRB gene.
More info about this panel Spain.
Thyroid Hormone Resistance, Sequencing Exons (7-10) THRB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the THRB gene.
More info about this panel Spain.
Familial Thyroid Dyshormogenesis , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Thyroid Dyshormogenesis , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: SLC16A2 SLC5A5 TG THRB DUOX2 IYD SECISBP2 DUOXA2 SLC26A4
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.
Thyroid hormone resistance, generalized Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the THRB gene.
More info about this panel Germany.
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 hormone resistance: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the THRB gene.
More info about this panel Canada.
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