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).

Clinical Features

Phenotypes and symptoms related to Bile Acid Malabsorption, Primary; Pbam

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Malabsorption
  • Chronic diarrhea
  • Malnutrition
  • Steatorrhea
  • Celiac disease
  • Exocrine pancreatic insufficiency
  • Fat malabsorption

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Bile Acid Malabsorption, Primary; Pbam Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Liver Diseases Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Bile acid malabsorption, primary.

By Centogene AG - the Rare Disease Company (Germany).

SLC10A2
Specificity
100 %
Genes
100 %
SLC10A2.

By Fulgent Genetics Fulgent Genetics (United States).

SLC10A2
Specificity
100 %
Genes
100 %
Congenital Diarrhea Panel.

By Blueprint Genetics (Finland).

SAR1B, SI, SKIV2L, SLC10A2, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, ADAM17, TTC7A, TTC37, CYP27A1, DGAT1, SLC26A3, GUCY2C, XIAP, IL10, IL10RA , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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