SLC10A2 gene related symptoms and diseases

All the information presented here about the SLC10A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC10A2 gene

Symptoms // Phenotype % Cases
Growth delay Very Common - Between 80% and 100% cases
Failure to thrive Very Common - Between 80% and 100% cases
Diarrhea Very Common - Between 80% and 100% cases
Malabsorption Very Common - Between 80% and 100% cases
Chronic diarrhea Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC10A2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Malnutrition
  • Steatorrhea
  • Celiac disease
  • Exocrine pancreatic insufficiency
  • Fat malabsorption
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to SLC10A2 gene

Here you will find a list of rare diseases related to the SLC10A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BILE ACID MALABSORPTION, PRIMARY; PBAM


Description

Primary bile acid malabsorption is an intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, and steatorrhea. Bile acid malabsorption has been classified into 3 main types depending on the etiology. Types 1 and 3 are secondary disorders: type 1 is due to ileal dysfunction resulting from Crohn disease or ileal resection, and type 3 is secondary to other conditions, including cholecystectomy, post-vagotomy, celiac disease, and pancreatic insufficiency. Type 2 bile acid malabsorption is a primary congenital disorder, including the rare type due to mutations in the SLC10A2 gene (review by Pattni and Walters, 2009).

Most common symptoms of BILE ACID MALABSORPTION, PRIMARY; PBAM

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Malabsorption
  • Chronic diarrhea


More info about BILE ACID MALABSORPTION, PRIMARY; PBAM

SOURCES: MESH OMIM


Potential gene panels for SLC10A2 gene

Liver Diseases Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1

More info about this panel

Bile acid malabsorption, primary Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SLC10A2 gene.

More info about this panel

SLC10A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC10A2 gene.

More info about this panel

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BCAT2 BMP2 OR2W3 GDF1 PJVK EXT2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more