1. Mendelian
  2. Genes
  3. SLC26A3

SLC26A3 gene related symptoms and diseases

All the information presented here about the SLC26A3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to SLC26A3 gene

Symptoms // Phenotype % Cases
Growth delay Very Common - Between 80% and 100% cases
Chronic kidney disease Very Common - Between 80% and 100% cases
Hypochloremia Very Common - Between 80% and 100% cases
Secretory diarrhea Very Common - Between 80% and 100% cases
Increased circulating renin level Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC26A3 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Metabolic alkalosis
  • Alkalosis
  • Hyperaldosteronism
  • Intestinal obstruction
  • Hyponatremia
  • Hypokalemia
  • Growth abnormality
  • Failure to thrive

And 11 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SLC26A3 gene

Here you will find a list of rare diseases related to the SLC26A3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL CHLORIDE DIARRHEA

Alternate names

CONGENITAL CHLORIDE DIARRHEA Is also known as chloride diarrhea, congenital, finnish type, chloridorrhea, congenital

Description

Congenital secretory chloride diarrhea is an autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis. The electrolyte disorder resembles the renal disorder Bartter syndrome (see {607364}), except that chloride diarrhea is not associated with calcium level abnormalities (summary by Choi et al., 2009). Genetic Heterogeneity of Congenital DiarrheaOther forms of congenital diarrhea include microvillus inclusion disease (DIAR2 ), caused by mutation in the MYO5B gene (OMIM ) on chromosome 18q21; a syndromic form of congenital secretory sodium diarrhea (see DIAR3, {270420}), caused by mutation in the SPINT2 gene (OMIM ) on chromosome 19q13.1; malabsorptive congenital diarrhea (DIAR4 ), caused by mutation in the NEUROG3 gene (OMIM ) on chromosome 10q21.3; congenital tufting enteropathy (DIAR5 ), caused by mutation in the EPCAM gene (OMIM ) on chromosome 2p21; early-onset chronic diarrhea (DIAR6 ), caused by mutation in the GUCY2C gene (OMIM ) on chromosome 12p13.1-p12.3; neonatal-onset chronic diarrhea (DIAR7 ) caused by mutation in the DGAT1 gene (OMIM ) on chromosome 8q24; and a nonsyndromic form of congenital secretory sodium diarrhea (DIAR8 ), caused by mutation in the SLC9A3 gene (OMIM ) on chromosome 5p15.

Most common symptoms of CONGENITAL CHLORIDE DIARRHEA

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Polyhydramnios
  • Abnormality of the kidney


More info about CONGENITAL CHLORIDE DIARRHEA

SOURCES: ORPHANET MESH OMIM


Potential gene panels for SLC26A3 gene

SLC26A3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SLC26A3 gene.

More info about this panel
Spain.

Congenital Diarrhea Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq Analysis that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel
United States.

Congenital Diarrhea Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel
United States.

Congenital Diarrhea Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq + Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel
United States.

Chloride diarrhea, congenital (sequence analysis of SLC26A3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC26A3 gene.

More info about this panel
Portugal.

Congenital chloride diarrhea Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the SLC26A3 gene.

More info about this panel
Poland.

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel
Germany.

Familial Chloride Diarrhea Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the SLC26A3 gene.

More info about this panel
Germany.

Diarrhea type 1, secretory chloride, congenital Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC26A3 gene.

More info about this panel
Germany.

SLC26A3 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the SLC26A3 gene.

More info about this panel
Austria.

SLC26A3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC26A3 gene.

More info about this panel
United States.

Cholestasis Panel Panel

Finland.

By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2

More info about this panel
Finland.

Congenital Diarrhea Panel Panel

Finland.

By Blueprint Genetics Congenital Diarrhea Panel that also includes the following genes: SAR1B SI SKIV2L SLC10A2 SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3

More info about this panel
Finland.

Congenital chloride diarrhea Panel

Spain.

By Bioarray

This panel specifically test the SLC26A3 gene.

More info about this panel
Spain.

CONGENITAL CHLORIDE DIARRHEA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SLC26A3 gene.

More info about this panel
Spain.

Congenital Diarrhea with Loss of Chlorine, Sequencing SLC26A3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC26A3 gene.

More info about this panel
Spain.

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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