Preferred Label : Bile acid malabsorption, primary, 1;
Symbol : PBAM1;
CISMeF acronym : PBAM;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : 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).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the solute carrier family 10 (sodium/bile acid cotransporter
family), member 2 gene (SLC10A2, 601295.0001);
Laboratory abnormalities : Decreased LDL cholesterol;
Prefixed ID : #613291;
Origin ID : 613291;
UMLS CUI : C5561934;
Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
