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 58 30 13 6 41 74
Primary Bile Acid Malabsorption 76 38
Pbam 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
rare disorder


HPO:

33
bile acid malabsorption, primary:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bile Acid Malabsorption, Primary

OMIM : 58 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. The drugs chenodeoxycholic acid and Cathartics have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are failure to thrive and growth delay

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Bile Acid Malabsorption, Primary:

33
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 growth delay 33 HP:0001510
3 chronic diarrhea 33 HP:0002028
4 steatorrhea 33 HP:0002570

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Bile Acid Malabsorption, Primary:


diarrhea

Drugs & Therapeutics for Bile Acid Malabsorption, Primary

Drugs for Bile Acid Malabsorption, Primary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
2 Cathartics Phase 2
3 Bile Acids and Salts Phase 2
4 Gastrointestinal Agents Phase 2
5 Laxatives Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Obeticholic Acid in Bile Acid Diarrhoea Completed NCT01585025 Phase 2 Obeticholic acid

Search 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 30 SLC10A2

Anatomical Context for Bile Acid Malabsorption, Primary

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

42
Liver

Publications for Bile Acid Malabsorption, Primary

Articles related to Bile Acid Malabsorption, Primary:

# Title Authors Year
1
Preparation of H,(4) PyrrolidineQuin-BAM (PBAM). ( 23180898 )
2012
2
Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). ( 9109432 )
1997
3
Primary bile acid malabsorption: a pathophysiologic and clinical entity? ( 1298051 )
1992
4
Primary bile acid malabsorption. Histologic and immunologic study in three patients. ( 3569759 )
1987
5
Well-compensated primary bile acid malabsorption presenting as chronic nonspecific diarrhea. ( 3944738 )
1986
6
Primary bile acid malabsorption: defective in vitro ileal active bile acid transport. ( 7106511 )
1982
7
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:

76
# 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 Uncertain significance rs72547505 GRCh37 Chromosome 13, 103701773: 103701773
6 SLC10A2 NM_000452.2(SLC10A2): c.785C> T (p.Thr262Met) single nucleotide variant Uncertain significance rs72547505 GRCh38 Chromosome 13, 103049423: 103049423
7 SLC10A2 NM_000452.2(SLC10A2): c.910T> C (p.Phe304Leu) single nucleotide variant Uncertain significance rs61966074 GRCh37 Chromosome 13, 103701648: 103701648
8 SLC10A2 NM_000452.2(SLC10A2): c.910T> C (p.Phe304Leu) single nucleotide variant Uncertain significance rs61966074 GRCh38 Chromosome 13, 103049298: 103049298
9 SLC10A2 NM_000452.2(SLC10A2): c.132G> C (p.Leu44Phe) single nucleotide variant Uncertain significance rs199553519 GRCh37 Chromosome 13, 103718468: 103718468
10 SLC10A2 NM_000452.2(SLC10A2): c.132G> C (p.Leu44Phe) single nucleotide variant Uncertain significance rs199553519 GRCh38 Chromosome 13, 103066118: 103066118

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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....