PBAM
MCID: BLC012
MIFTS: 24

Bile Acid Malabsorption, Primary (PBAM)

Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases

Aliases & Classifications for Bile Acid Malabsorption, Primary

MalaCards integrated aliases for Bile Acid Malabsorption, Primary:

Name: Bile Acid Malabsorption, Primary 57 29 13 6 40 73
Primary Bile Acid Malabsorption 75 37
Pbam 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
rare disorder


HPO:

32
bile acid malabsorption, primary:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bile Acid Malabsorption, Primary

OMIM : 57 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). (613291)

MalaCards based summary : Bile Acid Malabsorption, Primary, also known as primary bile acid malabsorption, is related to diarrhea, and has symptoms including diarrhea An important gene associated with Bile Acid Malabsorption, Primary is SLC10A2 (Solute Carrier Family 10 Member 2), and among its related pathways/superpathways is Bile secretion. Affiliated tissues include liver, and related phenotypes are failure to thrive and growth delay

UniProtKB/Swiss-Prot : 75 Primary bile acid malabsorption: An intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids.

Related Diseases for Bile Acid Malabsorption, Primary

Diseases related to Bile Acid Malabsorption, Primary via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 diarrhea 10.2

Symptoms & Phenotypes for Bile Acid Malabsorption, Primary

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
poor growth

Laboratory Abnormalities:
decreased ldl cholesterol

Abdomen Gastrointestinal:
steatorrhea
watery diarrhea, chronic
increased fecal bile acid
bile acid malabsorption in the ileum


Clinical features from OMIM:

613291

Human phenotypes related to Bile Acid Malabsorption, Primary:

32
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 growth delay 32 HP:0001510
3 chronic diarrhea 32 HP:0002028
4 steatorrhea 32 HP:0002570

UMLS symptoms related to Bile Acid Malabsorption, Primary:


diarrhea

Drugs & Therapeutics for Bile Acid Malabsorption, Primary

Search Clinical Trials , NIH Clinical Center for Bile Acid Malabsorption, Primary

Genetic Tests for Bile Acid Malabsorption, Primary

Genetic tests related to Bile Acid Malabsorption, Primary:

# Genetic test Affiliating Genes
1 Bile Acid Malabsorption, Primary 29 SLC10A2

Anatomical Context for Bile Acid Malabsorption, Primary

MalaCards organs/tissues related to Bile Acid Malabsorption, Primary:

41
Liver

Publications for Bile Acid Malabsorption, Primary

Articles related to Bile Acid Malabsorption, Primary:

# Title Authors Year
1
Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). ( 9109432 )
1997
2
Primary bile acid malabsorption: a pathophysiologic and clinical entity? ( 1298051 )
1992
3
Primary bile acid malabsorption. Histologic and immunologic study in three patients. ( 3569759 )
1987
4
Well-compensated primary bile acid malabsorption presenting as chronic nonspecific diarrhea. ( 3944738 )
1986
5
Primary bile acid malabsorption: defective in vitro ileal active bile acid transport. ( 7106511 )
1982
6
Refractory infantile diarrhea due to primary bile acid malabsorption. ( 430290 )
1979

Variations for Bile Acid Malabsorption, Primary

UniProtKB/Swiss-Prot genetic disease variations for Bile Acid Malabsorption, Primary:

75
# Symbol AA change Variation ID SNP ID
1 SLC10A2 p.Leu243Pro VAR_004614 rs121917848
2 SLC10A2 p.Thr262Met VAR_004615 rs72547505

ClinVar genetic disease variations for Bile Acid Malabsorption, Primary:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC10A2 NM_000452.2(SLC10A2): c.728T> C (p.Leu243Pro) single nucleotide variant no interpretation for the single variant rs121917848 GRCh37 Chromosome 13, 103703640: 103703640
2 SLC10A2 NM_000452.2(SLC10A2): c.728T> C (p.Leu243Pro) single nucleotide variant no interpretation for the single variant rs121917848 GRCh38 Chromosome 13, 103051290: 103051290
3 SLC10A2 NM_000452.2(SLC10A2): c.584_585+1delAAGinsCTT indel Pathogenic rs387906390 GRCh37 Chromosome 13, 103704969: 103704971
4 SLC10A2 NM_000452.2(SLC10A2): c.584_585+1delAAGinsCTT indel Pathogenic rs387906390 GRCh38 Chromosome 13, 103052619: 103052621
5 SLC10A2 NM_000452.2(SLC10A2): c.785C> T (p.Thr262Met) single nucleotide variant no interpretation for the single variant rs72547505 GRCh37 Chromosome 13, 103701773: 103701773
6 SLC10A2 NM_000452.2(SLC10A2): c.785C> T (p.Thr262Met) single nucleotide variant no interpretation for the single variant rs72547505 GRCh38 Chromosome 13, 103049423: 103049423

Expression for Bile Acid Malabsorption, Primary

Search GEO for disease gene expression data for Bile Acid Malabsorption, Primary.

Pathways for Bile Acid Malabsorption, Primary

Pathways related to Bile Acid Malabsorption, Primary according to KEGG:

37
# Name Kegg Source Accession
1 Bile secretion hsa04976

GO Terms for Bile Acid Malabsorption, Primary

Sources for Bile Acid Malabsorption, Primary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....