PBAM
MCID: BLC012
MIFTS: 45

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 56 29 13 6 39 71
Primary Bile Acid Malabsorption 73 36
Pbam 56 73
Steatorrhea 43

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
rare disorder


HPO:

31
bile acid malabsorption, primary:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

OMIM 56 613291
KEGG 36 H01016
MeSH 43 D045602
MedGen 41 C2750087
UMLS 71 C2750087

Summaries for Bile Acid Malabsorption, Primary

OMIM : 56 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 pancreatic steatorrhea and celiac disease 1, 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 are Bile secretion and cAMP signaling pathway. The drugs Omeprazole and Antacids have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and pancreas, and related phenotypes are failure to thrive and growth delay

KEGG : 36 This disease occurs when there is impaired absorption of bile acids in the terminal ileum. In patients with terminal ileal resection or impaired terminal ileal function, bile acids are not reabsorbed and excess colonic bile acids cause diarrhea. Excess colonic bile acids can be seen in patients with a histological normal terminal ileum and this has been called primary bile acid malabsorption.

UniProtKB/Swiss-Prot : 73 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:

(show top 50) (show all 192)
# Related Disease Score Top Affiliating Genes
1 pancreatic steatorrhea 33.6 SCT PNLIP CCK
2 celiac disease 1 31.9 SCT GCG CCK
3 zollinger-ellison syndrome 30.5 SST SCT
4 pernicious anemia 30.1 SST SCT
5 duodenal ulcer 29.8 SST SCT CCK
6 pancreatic agenesis 1 29.7 SCT PNLIP CFTR
7 cholestasis 29.6 SLC10A2 GCG CCK
8 duodenal atresia 29.5 SCT CFTR
9 short bowel syndrome 29.4 SST GCG CCK
10 secretory diarrhea 29.3 SST CFTR
11 diabetes mellitus 29.3 SST SCT PNLIP GCG CCK
12 constipation 29.2 SST GCG CCK
13 alcoholic pancreatitis 29.1 SCT CFTR CCK
14 exocrine pancreatic insufficiency 29.1 SCT PNLIP ELANE CFTR CCK
15 chylomicron retention disease 28.6 SLC10A2 PNLIP MTTP GCG CFTR
16 diarrhea 28.4 TMPRSS15 SST SLC10A2 SCT CFTR CCK
17 pancreatitis 27.4 TMPRSS15 SST SCT PNLIP GCG ELANE
18 acute pancreatitis 27.4 TMPRSS15 SST SCT PNLIP ELANE CFTR
19 tropical sprue 11.6
20 blind loop syndrome 11.5
21 pancreatitis, hereditary 11.5
22 abetalipoproteinemia 11.5
23 bile acid synthesis defect, congenital, 2 11.3
24 lysosomal acid lipase deficiency 11.3
25 bile acid synthesis defect, congenital, 1 11.3
26 cholestasis, benign recurrent intrahepatic, 1 11.2
27 shwachman-diamond syndrome 1 11.2
28 cystic fibrosis 10.4
29 hypoparathyroidism 10.4
30 gastrinoma 10.3 SST SCT
31 deficiency anemia 10.3
32 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.3
33 liver cirrhosis 10.3
34 glucagonoma 10.2 SST SCT
35 agammaglobulinemia 10.2
36 gastrointestinal system disease 10.2
37 angiodysplasia 10.2 SST SCT
38 duodenum cancer 10.2 SST SCT
39 duodenum disease 10.2 SST SCT
40 congenital diarrhea 10.2
41 liver disease 10.2
42 overgrowth syndrome 10.2
43 abnormality of glucagon secretion 10.1 SST GCG
44 petrositis 10.1 SST GCG
45 bile reflux 10.1 SCT CCK
46 vipoma 10.1 SST SCT
47 enterocolitis 10.1
48 mycobacterium tuberculosis 1 10.1
49 hereditary lymphedema i 10.1
50 osteomalacia 10.1

Graphical network of the top 20 diseases related to Bile Acid Malabsorption, Primary:



Diseases related to Bile Acid Malabsorption, Primary

Symptoms & Phenotypes for Bile Acid Malabsorption, Primary

Human phenotypes related to Bile Acid Malabsorption, Primary:

31
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 growth delay 31 HP:0001510
3 chronic diarrhea 31 HP:0002028
4 steatorrhea 31 HP:0002570

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Bile Acid Malabsorption, Primary:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 CCK CFTR ELANE MTTP PNLIP SLC10A2

Drugs & Therapeutics for Bile Acid Malabsorption, Primary

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
2 Antacids Phase 3
3 Proton Pump Inhibitors Phase 3
4 Anti-Ulcer Agents Phase 3
5 Liver Extracts Phase 2, Phase 3
6
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
7
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
8 Laxatives Phase 2
9 Cathartics Phase 2
10 Bile Acids and Salts Phase 2
11 Caseins Phase 2
12 Chelating Agents Phase 2
13 Interleukin-12 Phase 1, Phase 2
14 Dermatologic Agents Phase 1, Phase 2
15
Phylloquinone Approved, Investigational Phase 1 84-80-0
16
Xylometazoline Approved, Investigational Phase 1 526-36-3 5709
17
Menadione Approved, Nutraceutical Phase 1 58-27-5 4055
18 Menaquinone Investigational Phase 1 1182-68-9
19 Micronutrients Phase 1
20 Trace Elements Phase 1
21 Vitamins Phase 1
22 Hemostatics Phase 1
23 Nutrients Phase 1
24 Vitamin K Phase 1
25 naphthoquinone Phase 1
26 Coagulants Phase 1
27 Antifibrinolytic Agents Phase 1
28
carbamide peroxide Approved 124-43-6
29
Imidacloprid Vet_approved 105827-78-9 86418
30 Analgesics, Opioid
31 Immunoglobulins
32 Antibodies

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 An Open-label, Multicenter, Randomized, Cross-over Study to Compare the Safety and Efficacy of PANZYTRAT® 25,000 to KREON® 25,000 in the Control of Steatorrhea in Subjects Aged 7 Years and Older With Cystic Fibrosis (CF) and Exocrine Pancreatic Insufficiency (EPI) Completed NCT01327703 Phase 4 Panzytrat® 25,000;Kreon® 25,000
2 MALABSORPTION BLOOD TEST: Toward a Novel Approach to Quantify Steatorrhea Completed NCT00572975 Phase 4
3 Exocrine Pancreatic Insufficiency in Pancreatic Cancer: Evaluating the Need and Efficacy of Pancreatic Enzyme Replacement Therapy Withdrawn NCT01401387 Phase 4
4 Efficacy and Safety of Ultrase MT12 in the Control of Steatorrhea in Cystic Fibrosis (CF) and Pancreatic Insufficient (PI) Children Aged 2 to 6 Years Old Completed NCT00880100 Phase 3 Ultrase® MT12
5 A Multicenter, Randomized, Double-blind, Parallel, Placebo-controlled, Phase III Study to Assess the Safety and Efficacy of Viokase® 16 for the Correction of Steatorrhea in Patients With Exocrine Pancreatic Insufficiency Completed NCT00559364 Phase 3 Viokase® 16;Placebo;Proton pump inhibitor (PPI);Omeprazole
6 A Randomized, Double-Blind, Placebo-Controlled, Multi-Center, Crossover Study to Evaluate the Effectiveness and Safety of PANCRECARB® MS-16 (Pancrelipase) in Reducing Steatorrhea in Children and Adults With Cystic Fibrosis Completed NCT00432861 Phase 3 PANCRECARB® (pancrelipase);Placebo
7 A Randomized Double-blind (Withdrawal) Phase 3 Study to Evaluate the Efficacy and Tolerability of Pancrelipase MT Capsules Compared With Placebo in the Treatment of Subjects With Cystic Fibrosis-dependent Exocrine Pancreatic Insufficiency Completed NCT00662675 Phase 3 Pancrease MT 10.5, or MT 21;Placebo for Pancrease MT 10.5 or MT 21
8 Efficacy and Safety of Ultrase® MT20 in Improving the Coefficient of Fat Absorption (CFA%) in Children With Cystic Fibrosis (CF) and Pancreatic Insufficiency (PI) Completed NCT00513682 Phase 3 Ultrase® MT20
9 A Multicenter, Randomized, Double-Blind, Crossover Study to Compare the Safety and Efficacy of Ultrase® MT20 to Placebo for the Correction of Steatorrhea in Patients With Cystic Fibrosis (CF) Completed NCT00408317 Phase 3 Ultrase® MT20;Placebo
10 Double-blind, Cross-over, Randomized, Placebo-controlled, Multi-center Study to Investigate the Effect of Creon®25 000 on the Coefficient of Fat Absorption of HIV-infected Patients Terminated NCT00623025 Phase 3 Creon 25000;Placebo
11 An Open Label Multicenter Extension Study to Evaluate the Long-term Efficacy and Safety of SBC-102 in Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 Terminated NCT01473875 Phase 2, Phase 3 SBC-102
12 STUDY OF EFFECTIVENESS OF THE USE OF PANCREATIC ENZYME: NORZYME® -(MADE IN THE LABORATORY PANCREALIPASE BERGAMO) INPATIENTS WITH PANCREATIC INSUFFICIENCY IN USE SUBSTITUTEENZYMATIC WHEN COMPARED TO PRODUCT CREON® Withdrawn NCT01228643 Phase 3
13 Obeticholic Acid Treatment in Patients With Bile Acid Diarrhoea: an Open-label, Pilot Study of Mechanisms, Safety and Symptom Response. Completed NCT01585025 Phase 2 Obeticholic acid
14 Study of Tolerance and Lipid Digestibility of a Formula in Healthy 3 Months Infants Completed NCT01184378 Phase 2
15 A Phase II, Randomized, Investigator-Blinded, Parallel-Group, Pilot Study Evaluating the Safety, Palatability and Effectiveness of Four Doses of Pancrelipase Microtablets in the Treatment of Infants and Toddlers With Cystic Fibrosis-Related Pancreatic Insufficiency and Fat Malabsorption Completed NCT00217204 Phase 2 Pancrelipase microtablets
16 An Open-Label Cross-over Study to Evaluate the Intraduodenal Delivery of Lipase, Protease and Amylase From Administration of VIOKASE16 in Chronic Pancreatitis Subjects With Exocrine Pancreatic Insufficiency (EPI). Completed NCT00559052 Phase 2 VIOKASE 16
17 An Open-Label Phase I/II Pilot Study to Assess the Safety/Tolerability and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Active, not recruiting NCT02199496 Phase 1, Phase 2
18 A Single-Dose, Open-Label, Randomized, Crossover Study to Evaluate Intraduodenal Enzyme Delivery of PANCREASE MT in Subjects With Severe Exocrine Pancreatic Insufficiency Completed NCT00676702 Phase 1 Pancrelipase in combination with Ensure Plus
19 A Pilot Study of Safety and Efficacy of the Oral IL-12/23 Inhibitor, STA-5326 Mesylate, for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Completed NCT00263237 Phase 1 STA-5326
20 Epidemiology of Chronic Diarrhea Among Children Admitted to Gastroenterology Unit at Assuit University Children Hospital Unknown status NCT03261297
21 Prevalence of Exocrine Pancreatic Insufficiency in Patients With Decompensated Cirrhosis Unknown status NCT03236038
22 Endoscopic Versus Surgical Treatment of Chronic Pancreatitis - A Randomized Controlled Trial Unknown status NCT01520675
23 Effect of Potato Fiber on Appetite and Fecal Fat Excretion Completed NCT02957318
24 Randomized Study of Pancrelipase With Bicarbonate (PANCRECARB) Capsules in Reducing Steatorrhea in Patients With Cystic Fibrosis Completed NCT00006063 pancrelipase with bicarbonate
25 Association Between Mediterranean Diet and Neuroendocrine Tumours. Completed NCT03592940
26 Bone Disease in Chronic Pancreatitis: A Complex Phenomenon Completed NCT02108509
27 One-stage Laparoscopic Revision of Failed and/or Complicated Jejunoileal Bypass to Roux-en-Y Gastric Bypass Completed NCT01040533
28 Exocrine Pancreatic Insufficiency's Prevalence in Active Crohn's Disease Treated by Biological Therapy Recruiting NCT03915262
29 Antiendomysium Antibodies Assay in the Culture Medium of Intestinal Mucosa: an Accurate Method for Celiac Disease Diagnosis in Patients With Weakly Positive Serum Anti-transglutaminase Antibodies. Recruiting NCT02242123
30 Classification and Comparison of Early-onset and Late-onset Idiopathic Chronic Pancreatitis Active, not recruiting NCT03953937
31 Biomarker for Wolman Disease, AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02383641
32 Evaluation on Common Limb Length in Laparoscopic One-anastomosis Gastric Bypass for Morbidly Obese Patients Active, not recruiting NCT04357119
33 Comparison of Secretin Enhanced MRCP to Endoscopic Pancreatic Function Testing in Diagnosing Exocrine Insufficiency in Patients Who Have Undergone Pancreas Cancer Resection Withdrawn NCT01094600 Synthetic Human Secretin
34 MRCP With Secretin Stimulation for the Evaluation of Pancreatic Endocrine and Exocrine Function Following Surgical Resection for Pancreatic Adenocarcinoma Withdrawn NCT01094535 Synthetic Human Secretin
35 An Investigation of the Association Between Helicobacter Pylori Infection and Abdominal Pain in Cystic Fibrosis Patients Withdrawn NCT00765401

Search NIH Clinical Center for Bile Acid Malabsorption, Primary

Cochrane evidence based reviews: steatorrhea

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:

40
Colon, Testes, Pancreas, Bone, Liver

Publications for Bile Acid Malabsorption, Primary

Articles related to Bile Acid Malabsorption, Primary:

(show top 50) (show all 108)
# Title Authors PMID Year
1
Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). 6 56 61
9109432 1997
2
Recent advances in the understanding of bile acid malabsorption. 56
19900947 2009
3
Analysis of ileal sodium/bile acid cotransporter and related nuclear receptor genes in a family with multiple cases of idiopathic bile acid malabsorption. 56
17171805 2006
4
Absence of dysfunctional ileal sodium-bile acid cotransporter gene mutations in patients with adult-onset idiopathic bile acid malabsorption. 56
11589382 2001
5
Point mutations in the ileal bile salt transporter cause leaks in the enterohepatic circulation leading to severe chronic diarrhea and malabsorption. 56
9109422 1997
6
Well-compensated primary bile acid malabsorption presenting as chronic nonspecific diarrhea. 56
3944738 1986
7
Primary bile acid malabsorption: defective in vitro ileal active bile acid transport. 56
7106511 1982
8
Refractory infantile diarrhea due to primary bile acid malabsorption. 56
430290 1979
9
The enterohepatic circulation of bile salts. 56
4627839 1972
10
Tumor-Microenvironment-Triggered Ion Exchange of a Metal-Organic Framework Hybrid for Multimodal Imaging and Synergistic Therapy of Tumors. 61
32374492 2020
11
Crystal structures of (η4-cyclo-octa-1,5-diene)bis(1,3-di-methyl-imidazol-2-yl-idene)iridium(I) iodide and (η4-cyclo-octa-1,5-diene)bis-(1,3-di-ethyl-imidazol-2-yl-idene)iridium(I) iodide. 61
32431918 2020
12
Local structure and excitations in systems with CuF64- units: lack of Jahn-Teller effect in the low symmetry compound Na2CuF4. 61
32227047 2020
13
Exploring New Zintl Phases in the 9-4-9 Family via Al Substitution. Synthesis, Structure, and Physical Properties of Ae9Mn4-xAlxSb9 (Ae = Ca, Yb, Eu). 61
32096622 2020
14
Investigations of the heterometallic ludwigite Ni2AlBO5. 61
31627197 2020
15
Enhanced electromagnon excitations in Nd-doped BiFeO3 nanoparticles near morphotropic phase boundaries. 61
31531469 2019
16
Chemical and Electrochemical Lithiation of van der Waals Tetrel-Arsenides. 61
30887569 2019
17
Anionic Doping and Cationic Site Preference in CaYb4Al2Sb6- xGe x ( x = 0.2, 0.5, 0.7): Origin of the Enhanced Seebeck Coefficient and the Structural Transformation. 61
30985118 2019
18
Characterizing modulated structures with first-principles calculations: a unified superspace scheme of ordering in mullite. 61
30821259 2019
19
Local insight into the La-induced structural phase transition in multiferroic BiFeO3 ceramics by x-ray absorption fine structure spectroscopy. 61
30523853 2019
20
11B and 89Y solid state MAS NMR spectroscopic investigations of the layered borides YTB4 (T = Mo, W, Re). 61
30605201 2019
21
Complex Low Energy Tetrahedral Polymorphs of Group IV Elements from First Principles. 61
30411915 2018
22
Tb3Pd2, Er3Pd2 and Er6Co5-x: structural variations and bonding in rare-earth-richer binary intermetallics. 61
30191890 2018
23
Complex Magnetic Ordering in the Oxide Selenide Sr2Fe3Se2O3. 61
30062877 2018
24
Photodynamic therapy-mediated remote control of chemotherapy toward synergistic anticancer treatment. 61
30024587 2018
25
Strain-Driven Nanoscale Phase Competition near the Antipolar-Nonpolar Phase Boundary in Bi0.7La0.3FeO3 Thin Films. 61
29637778 2018
26
Li6M(SeO3)4 (M = Co, Ni, and Cd) and Li2Zn(SeO3)2: Selenites with Late Transition-Metal Cations. 61
29513527 2018
27
Li0.93V2.07BO5: a new nano-rod cathode material for lithium ion batteries. 61
29319707 2018
28
Successive Phase Transitions in Fe2+ Ladder Compounds Sr2Fe3Ch2O3 (Ch = S, Se). 61
28972740 2017
29
ScRu2B3 and Sc2RuB6: Borides Featuring a 2D Infinite Boron Clustering. 61
28812877 2017
30
Ordered vacancy distribution in 2/1 mullite: a superspace model. 61
28572548 2017
31
Semiclathrate Hydrates in Tri-n-butylphosphine Oxide (TBPO)-Water and TBPO-Water-Methane Systems. 61
28422511 2017
32
Sequence of phase transitions in (NH4)3SiF7. 61
28157243 2017
33
Quaternary chalcogenides BaRE2In2Ch7 (RE = La-Nd; Ch = S, Se) containing InCh5 trigonal bipyramids. 61
27424487 2016
34
The Ti-Mn system revisited: experimental investigation and thermodynamic modelling. 61
27498605 2016
35
Synthesis, Structure, and Complex Magnetism of MIr2In8 (M = Eu, Sr). 61
26949815 2016
36
A non-typical sequence of phase transitions in (NH4)3GeF7: optical and structural characterization. 61
26903439 2016
37
Switching the Structure Type upon Ag Substitution: Synthesis and Crystal as well as Electronic Structures of Li12AgGe4. 61
26700588 2016
38
A pseudo-tetragonal tungsten bronze superstructure: a combined solution of the crystal structure of K6.4(Nb,Ta)(36.3)O94 with advanced transmission electron microscopy and neutron diffraction. 61
26646168 2016
39
Synthesis, structure and magnetic ordering of the mullite-type Bi2Fe(4-x)CrxO9 solid solutions with a frustrated pentagonal Cairo lattice. 61
26661379 2016
40
Unprecedented transformation of [I(-)·I3(-)] to [I4(2-)] polyiodides in the solid state: structures, phase transitions and characterization of dipyrazolium iodide triiodide. 61
26441208 2015
41
Synthesis, crystal structure and properties of the new superconductors TaRuB and NbOsB. 61
26418029 2015
42
Synthesis and characterization of the rare-earth Dion-Jacobson layered perovskites, APrNb2O7 (A = Rb, Cs and CuCl). 61
25619609 2015
43
Pressure-induced reversible phase transition in thiourea dioxide crystal. 61
26133443 2015
44
Evidence for room temperature electric polarization in RMn(2)O(5) multiferroics. 61
25839307 2015
45
Structural variability versus structural flexibility. A case study of Eu9Cd4+xSb9 and Ca9Mn4+xSb9 (x ≈ (1)/2). 61
25411723 2015
46
Synthesis and crystal structures of RE7Zn(21+x)Si(2-x) [RE = Ce, Pr, and Nd; 0.09 (1) < x < 0.95 (1)]. 61
25279593 2014
47
BaC: a thermodynamically stable layered superconductor. 61
25163859 2014
48
High energy density mixed polymeric phase from carbon monoxide and nitrogen. 61
24476291 2013
49
Yb5Ga2Sb6: a mixed valent and narrow-band gap material in the RE5M2X6 family. 61
24224906 2013
50
Synthesis and structural characterization of RE7Zn21Tt2 (RE = La-Nd; Tt = Ge, Sn, and Pb): new structure type among the polar intermetallic phases. 61
24131243 2013

Variations for Bile Acid Malabsorption, Primary

ClinVar genetic disease variations for Bile Acid Malabsorption, Primary:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC10A2 NM_000452.3(SLC10A2):c.584_585+1invinversion Pathogenic 8242 rs387906390 13:103704969-103704971 13:103052619-103052621
2 SLC10A2 NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu)SNV Conflicting interpretations of pathogenicity 500243 rs61966074 13:103701648-103701648 13:103049298-103049298
3 SLC10A2 NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe)SNV Conflicting interpretations of pathogenicity 501874 rs199553519 13:103718468-103718468 13:103066118-103066118
4 SLC10A2 NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met)SNV Uncertain significance 242727 rs72547505 13:103701773-103701773 13:103049423-103049423
5 SLC10A2 NM_000452.3(SLC10A2):c.728T>C (p.Leu243Pro)SNV no interpretation for the single variant 242799 rs121917848 13:103703640-103703640 13:103051290-103051290

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

73
# Symbol AA change Variation ID SNP ID
1 SLC10A2 p.Leu243Pro VAR_004614 rs121917848
2 SLC10A2 p.Thr262Met VAR_004615 rs72547505

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:

36
# Name Kegg Source Accession
1 Bile secretion hsa04976

Pathways related to Bile Acid Malabsorption, Primary according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.77 SST GCG CFTR
2 11.29 SLC10A2 SCT CFTR
3
Show member pathways
10.98 PNLIP MTTP
4 10.93 SCT PNLIP CFTR CCK
5 9.8 SCT CCK

GO Terms for Bile Acid Malabsorption, Primary

Cellular components related to Bile Acid Malabsorption, Primary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 SST SCT PNLIP GCG ELANE CCK
2 extracellular space GO:0005615 9.1 SST SCT PNLIP GCG ELANE CCK

Biological processes related to Bile Acid Malabsorption, Primary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 8.96 GCG CFTR
2 digestion GO:0007586 8.62 SST CCK

Molecular functions related to Bile Acid Malabsorption, Primary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.92 SST SCT GCG CCK

Sources for Bile Acid Malabsorption, Primary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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