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.

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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

SOURCES: ORPHANET OMIM


Potential gene panels for SLC5A5 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

SLC5A5 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the SLC5A5 gene.

More info about this panel

Thyroid dyshormonogenesis 1 (sequence analysis of SLC5A5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC5A5 gene.

More info about this panel

Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via SLC5A5/NIS Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SLC5A5 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

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

Single gene testing SLC5A5 Panel

Germany.

By CeGaT GmbH

This panel specifically test the SLC5A5 gene.

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

Thyroid Dyshormonogenesis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Thyroid Dyshormonogenesis that also includes the following genes: SLC5A5 TG TPO DUOX2 IYD DUOXA2

More info about this panel

Thyroid Dyshomogenesis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SLC5A5 gene.

More info about this panel

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

Thyroid Dyshomogenesis Panel

Slovakia.

By MedGene

This panel specifically test the SLC5A5 gene.

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

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

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

SLC5A5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC5A5 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

Baby Genes Targeted Panel Panel

United States.

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 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

Familial Thyroid Dyshormogenesis Type 1 , Sequencing SLC5A5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC5A5 gene.

More info about this panel

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

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

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

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 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

Thyroid dyshormonogenesis 1: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the SLC5A5 gene.

More info about this panel


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