SLC5A5 gene related symptoms and diseases
All the information presented here about the SLC5A5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC5A5 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Lethargy | Very Common - Between 80% and 100% cases |
Ectopic thyroid | Very Common - Between 80% and 100% cases |
Hypersomnia | Very Common - Between 80% and 100% cases |
Congenital hypothyroidism | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC5A5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Goiter
- Oligodontia
- Large fontanelles
- Abnormality of the face
- Macroglossia
- Abdominal distention
- Dry skin
- Jaundice
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC5A5 gene
Here you will find a list of rare diseases related to the SLC5A5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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 SLC5A5
Potential gene panels for SLC5A5 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 panelSLC5A5 mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the SLC5A5 gene.
More info about this panelThyroid dyshormonogenesis 1 (sequence analysis of SLC5A5 gene) Panel
By CGC Genetics
This panel specifically test the SLC5A5 gene.
More info about this panelCongenital Hypothyroidism (Thyroid Dyshormonogenesis) via SLC5A5/NIS Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC5A5 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 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 panelSingle gene testing SLC5A5 Panel
By CeGaT GmbH
This panel specifically test the SLC5A5 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 Dyshomogenesis Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the SLC5A5 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 Dyshomogenesis Panel
By MedGene
This panel specifically test the SLC5A5 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 panelThyroid dyshormonogenesis Panel
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 panelIntellectual Disability NGS Panel Panel
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 panelSLC5A5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC5A5 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 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 Dyshormogenesis Type 1 , Sequencing SLC5A5 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SLC5A5 gene.
More info about this panelFamilial Thyroid Dyshormogenesis , Panel Massive Sequencing (NGS) 10 Genes Panel
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 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 panelCEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
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 1: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SLC5A5 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DSG2-AS1 CACNA1F HOXA1 TBX15 HBB CHCHD2 MYBPC1