BILE ACID MALABSORPTION, PRIMARY

General Information (adopted from Orphanet):

Synonyms, Signs: PBAM
Number of Symptoms 12
OrphanetNr:
OMIM Id: 613291
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002570) Steatorrhea 31 / 7739
2
(HPO:0002028) Chronic diarrhea 51 / 7739
3
(HPO:0002630) Fat malabsorption 11 / 7739
4
(HPO:0001510) Growth delay 295 / 7739
5
(HPO:0001508) Failure to thrive 454 / 7739
6
(OMIM) Increased fecal bile acid 1 / 7739
7
(OMIM) Decreased LDL cholesterol 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Bile acid malabsorption in the ileum 1 / 7739
10
(HPO:0003593) Infantile onset 249 / 7739
11
(OMIM) Watery diarrhea, chronic 1 / 7739
12
(HPO:0003828) Variable expressivity 130 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Hess Thaysen and Pedersen (1976) described several patients who had chronic lifelong watery diarrhea and excessive bile acid loss, without other ileal pathology. The diarrhea resolved upon bile acid sequestration with cholestyramine.

Heubi et al. (1979, ...

Molecular genetics OMIM Small et al. (1972) suggested that a genetic defect in the predicted bile acid receptor in the ileum would lead to diarrhea and/or steatorrhea and suggested that bile acid turnover and fecal bile acid excretion be studied in ...