PBC
MCID: PRM006
MIFTS: 72

Primary Biliary Cirrhosis (PBC) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Liver diseases, Immune diseases categories

Summaries for Primary Biliary Cirrhosis

About this section
Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 Primary biliary cirrhosis is a chronic disease that affects the bile ducts within the liver. the bile ducts become inflamed and damaged, which causes bile to build up in the liver. this abnormal buildup destroys liver tissue and results in cirrhosis. primary biliary cirrhosis usually occurs between the ages of 40 and 60 and affects women more often than men. the cause of this condition is unknown, but research suggests that it is an autoimmune disease. ursodiol is the only drug approved by the u.s. food and drug administration for the treatment of primary biliary cirrhosis. last updated: 7/19/2010

MalaCards: Primary Biliary Cirrhosis, also known as biliary cirrhosis, is related to autoimmune hepatitis and systemic lupus erythematosus. An important gene associated with Primary Biliary Cirrhosis is SPIB (Spi-B transcription factor (Spi-1/PU.1 related)), and among its related pathways are Immune response IL 12 signaling pathway and Th1 Differentiation. The drugs colchicine and penicillamine and the compounds 2-oxo acid and dihydrolipoamide have been mentioned in the context of this disorder. Affiliated tissues include liver, t cells and bone, and related mouse phenotypes are immune system and hematopoietic system.

Wikipedia:66 Primary biliary cirrhosis, often abbreviated PBC, is an autoimmune disease of the liver marked by the... more...

Description from OMIM:48 109720,613007,613008,614220,614221

Aliases & Classifications for Primary Biliary Cirrhosis

About this section
Sources:
9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 50Orphanet, 48OMIM, 32LifeMap Discovery™, 63UMLS, 46Novoseek, 41NCIt, 59SNOMED-CT, 36MeSH, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 26ICD10
See all sources

Classifications:

Orphanet: 50 
Rare hepatic diseases


Characteristics (Orphanet epidemiological data):

50
primary biliary cirrhosis:
Inheritance: Multigenic/multifactorial; Prevalence: 1-5/10000; Age of onset: Adulthood


Aliases & Descriptions:

primary biliary cirrhosis 9 44 11 50 48 32 63
biliary cirrhosis 9 46 63
familial primary biliary cirrhosis 44 63
chronic non-suppurative destructive cholangitis 9
chronic nonsuppurative destructive cholangitis 9
biliary cirrhosis primary 46
biliary liver cirrhosis 9
cirrhosis, cholestatic 9
biliary cirrhosis nos 9
hanot's cirrhosis 63
hanot syndrome 50
pbc 44


External Ids:

Disease Ontology9 DOID:12236
NCIt41 C27167
MeSH36 D008105
ICD10 via Orphanet27 K74.3
SNOMED-CT via Orphanet60 31712002
UMLS via Orphanet64 C0008312, C0859942
ICD1026 K74.3

Related Diseases for Primary Biliary Cirrhosis

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Primary Biliary Cirrhosis family:

Biliary Cirrhosis, Primary, 3 Biliary Cirrhosis, Primary, 1
Biliary Cirrhosis, Primary, 2 Biliary Cirrhosis, Primary, 4
Biliary Cirrhosis, Primary, 5

Diseases related to Primary Biliary Cirrhosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 193)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune hepatitis31.7CTLA4, DLAT
2systemic lupus erythematosus30.8IRF5, IL12RB1, PDP1, CTLA4
3ulcerative colitis30.2IL12RB1, TNFSF15, CTLA4
4hepatitis11.2
5cholangitis10.9
6sclerosing cholangitis10.9
7primary sclerosing cholangitis10.9
8hepatocellular carcinoma10.8
9liver disease10.7
10renal tubular acidosis10.6
11arthritis10.6
12hemolytic anemia10.6
13glomerulonephritis10.6
14osteoporosis10.6
15rheumatoid arthritis10.6
16blindness10.6
17autoimmune hemolytic anemia10.6
18hypertension10.6
19nodular regenerative hyperplasia10.6
20membranous glomerulonephritis10.6
21hepatitis c10.5
22pernicious anemia10.5
23connective tissue disease10.5
24lupus erythematosus10.5
25thyroiditis10.5
26nephritis10.5
27myelitis10.5
28portal hypertension10.5
29celiac disease10.5
30scleroderma10.5
31reynolds syndrome10.5
32transverse myelitis10.5
33fanconi syndrome10.4
34osteomalacia10.4
35dermatitis10.4
36esophagitis10.4
37gastritis10.4
38pneumonia10.4
39purpura10.4
40polymyositis10.4
41autonomic dysfunction10.4
42endotheliitis10.4
43crohn's disease10.3
44limited scleroderma10.3
45takayasu's arteritis10.3
46steatorrhea10.3
47hepatitis b10.3
48sjogren's syndrome10.3
49cholangiocarcinoma10.3
50cholestasis10.3

Graphical network of the top 20 diseases related to Primary Biliary Cirrhosis:



Diseases related to primary biliary cirrhosis

Symptoms for Primary Biliary Cirrhosis

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

109720

Clinical features from OMIM:

109720,613007,613008,614220,614221

Drugs & Therapeutics for Primary Biliary Cirrhosis

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discovery™, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Primary Biliary Cirrhosis

Drug clinical trials:

Search ClinicalTrials for Primary Biliary Cirrhosis

Search NIH Clinical Center for Primary Biliary Cirrhosis

Search CenterWatch for Primary Biliary Cirrhosis

Inferred drug relations via UMLS63/NDF-RT42:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Primary Biliary Cirrhosis cell therapies at LifeMap Discovery.

Genetic Tests for Primary Biliary Cirrhosis

About this section

Anatomical Context for Primary Biliary Cirrhosis

About this section
Sources:
32LifeMap Discovery™, 34MalaCards
See all sources

MalaCards organs/tissues related to Primary Biliary Cirrhosis:

34
Liver, T cells, Bone, B cells, Testes, Monocytes, Thyroid, Lung, Heart, Endothelial, Salivary gland, Bone marrow, Breast, Kidney, Brain, Lymph node, Fetal liver

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Primary Biliary Cirrhosis:
id TissueAnatomical CompartmentCell Relevance
1 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate

Animal Models for Primary Biliary Cirrhosis or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Primary Biliary Cirrhosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053879.9TNFSF15, POU2AF1, IRF5, IL12A, IL12RB1, CTLA4
2MP:00053979.6CTLA4, SPIB, TNFSF15, POU2AF1, IRF5, IL12A

Publications for Primary Biliary Cirrhosis

About this section
Sources:
53PubMed
See all sources

Articles related to Primary Biliary Cirrhosis:

(show top 50)    (show all 1050)
idTitleAuthorsYear
1
Aberrant TGF-I^1 signaling contributes to the development of primary biliary cirrhosis in murine model. (24124327)
2013
2
Clinical significance and prevalence of anti-Saccharomyces cerevisiae antibody in Chinese patients with primary biliary cirrhosis. (22983759)
2013
3
Comparative proteomics study on liver mitochondria of primary biliary cirrhosis mouse model. (23586776)
2013
4
Clinical significance of hepatectomy for primary biliary cirrhosis patients with hepatocellular carcinoma: Report of a single center case series and review of the published work. (23607898)
2013
5
Sleep-Wake profiles in patients with primary biliary cirrhosis. (23173839)
2013
6
Diagnostic and clinical utility of antibodies against the nuclear body promyelocytic leukaemia and Sp100 antigens in patients with primary biliary cirrhosis. (22503841)
2012
7
Polymorphisms of genes related to endothelial cells are associated with primary biliary cirrhosis patients of Cretan origin. (22609442)
2012
8
Up-regulation of microRNA 506 leads to decreased Cl-/HCO3- anion exchanger 2 expression in biliary epithelium of patients with primary biliary cirrhosis. (22383162)
2012
9
Effect of the polymorphisms of tumor necrosis factor-I+ gene on the susceptibility to primary biliary cirrhosis: a meta-analysis. (23011034)
2012
10
Fatigue in primary biliary cirrhosis. (23089057)
2012
11
The role of natural killer (NK) and NK T cells in the loss of tolerance in murine primary biliary cirrhosis. (22519590)
2012
12
Evaluation of langerhans cell infiltrate by CD1a immunostain in liver biopsy for the diagnosis of primary biliary cirrhosis. (22498823)
2012
13
Primary biliary cirrhosis: a new histological staging and grading system proposed by Japanese authors. (21497151)
2011
14
Widespread cortical lesions on diffusion-weighted imaging in acute portal systemic shunt encephalopathy caused by primary biliary cirrhosis. (21233224)
2011
15
Fine phenotypic and functional characterization of effector cluster of differentiation 8 positive T cells in human patients with primary biliary cirrhosis. (21735469)
2011
16
A major step towards effective treatment evaluation in primary biliary cirrhosis. (21703168)
2011
17
Prognostic factors and survival analysis of antimitochondrial antibody-positive primary biliary cirrhosis in Chinese patients. (21409375)
2011
18
Assessment of liver function in primary biliary cirrhosis using Gd-EOB-DTPA-enhanced liver MRI. (20887325)
2010
19
Hepatic expression of endocannabinoid receptors and their novel polymorphisms in primary biliary cirrhosis. (19730968)
2010
20
Triple therapy with ursodeoxycholic acid, budesonide and mycophenolate mofetil in patients with features of severe primary biliary cirrhosis not responding to ursodeoxycholic acid alone. (20417047)
2010
21
Experimental evidence on the immunopathogenesis of primary biliary cirrhosis. (20029462)
2010
22
Hepatic IL-17 responses in human and murine primary biliary cirrhosis. (19101114)
2009
23
Recurrence of autoimmune disease, primary sclerosing cholangitis, primary biliary cirrhosis, and autoimmune hepatitis after liver transplantation. (19876939)
2009
24
Severe hypophosphatemic osteomalacia with Fanconi syndrome, renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis. (19252361)
2009
25
B cells suppress the inflammatory response in a mouse model of primary biliary cirrhosis. (19118554)
2009
26
High osteoprotegerin serum levels in primary biliary cirrhosis are associated with disease severity but not with the mRNA gene expression in liver tissue. (19229472)
2009
27
Clinical features of 107 autoimmune hepatitis patients and 30 of them with AIH-primary biliary cirrhosis overlap syndrome]. (18510851)
2008
28
Serum reactivity against bacterial pyruvate dehydrogenase: increasing the specificity of anti-mitochondrial antibodies for the diagnosis of primary biliary cirrhosis. (17162370)
2006
29
Chemical xenobiotics and mitochondrial autoantigens in primary biliary cirrhosis: identification of antibodies against a common environmental, cosmetic, and food additive, 2-octynoic acid. (15845458)
2005
30
Association of coeliac disease with primary biliary cirrhosis in Poland. (12560760)
2003
31
Transverse myelitis occurring in association with primary biliary cirrhosis and Sjogren's syndrome. (12741480)
2003
32
Natural history of primary biliary cirrhosis. (14594131)
2003
33
Epitope mapping on E1alpha subunit of pyruvate dehydrogenase complex with autoantibodies of patients with primary biliary cirrhosis. (14708897)
2003
34
Enhanced expression of Bcl-2 in lymphocytes infiltrating into the liver of patients with primary biliary cirrhosis. (12011972)
2002
35
Defective regulation of cholangiocyte Cl-/HCO3(-) and Na+/H+ exchanger activities in primary biliary cirrhosis. (12029638)
2002
36
Primary biliary cirrhosis: lessons learned from an organ-specific disease. (11918275)
2001
37
Nucleotide variations amongst V(H)Genes of AMA-producing B cell clones in primary biliary cirrhosis. (10756087)
2000
38
The liver in collagen diseases: pathologic study of 160 cases with particular reference to hepatic arteritis, primary biliary cirrhosis, autoimmune hepatitis and nodular regenerative hyperplasia of the liver. (11092254)
2000
39
Elevated serum dipeptidyl peptidase IV (CD26, EC 3.4.14.5) activity in patients with primary biliary cirrhosis. (10207821)
1999
40
Flow cytometric analysis of IL-6 receptors on peripheral lymphocytes in patients with primary biliary cirrhosis. (9524291)
1998
41
Aminoterminal propeptide of type III procollagen and hyaluronan in patients with primary biliary cirrhosis: markers of fibrosis in primary biliary cirrhosis. (8985819)
1996
42
Nodular nonsuppurative panniculitis in association with primary biliary cirrhosis and Hashimoto's thyroiditis. (8686385)
1996
43
Hemolytic anemia as cause of a marked bilirubin increase in primary biliary cirrhosis]. (8925755)
1996
44
Hospital prevalence of asymptomatic primary biliary cirrhosis: 4-year study based on analysis of 4468 consecutive in-patients. (9021716)
1996
45
Nucleotide sequence analysis of natural and combinatorial anti-PDC-E2 antibodies in patients with primary biliary cirrhosis. Recapitulating immune selection with molecular biology. (8133065)
1994
46
Primary biliary cirrhosis. High proportions of B cells in blood and liver tissue produce anti-mitochondrial antibodies of several Ig classes. (8077679)
1994
47
Combined treatment with ursodeoxycholic acid and prednisone in primary biliary cirrhosis. (8202208)
1994
48
Combinatorial autoantibodies to dihydrolipoamide acetyltransferase, the major autoantigen of primary biliary cirrhosis. (8460168)
1993
49
Immunomodulating effect of ursodeoxycholic acid therapy in patients with primary biliary cirrhosis. (7901268)
1993
50
Abnormal expression of anion exchanger genes in primary biliary cirrhosis. (8335211)
1993

Variations for Primary Biliary Cirrhosis

About this section

Expression for genes affiliated with Primary Biliary Cirrhosis

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Primary Biliary Cirrhosis

Search GEO for disease gene expression data for Primary Biliary Cirrhosis.

Pathways for genes affiliated with Primary Biliary Cirrhosis

About this section
Sources:
51PathCards, 61Thomson Reuters, 55R&D Systems, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN, 56Reactome
See all sources

Pathways related to Primary Biliary Cirrhosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3IL12RB1, IL12A
2
Show member pathways
IL27-mediated signaling events39
10.3IL12A, IL12RB1
3
Show member pathways
10.2IL12RB1, IL12A, CTLA4
4
Show member pathways
TCA cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
10.2DLAT, PDP1, PDHX

Compounds for genes affiliated with Primary Biliary Cirrhosis

About this section
Sources:
46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank
See all sources

Compounds related to Primary Biliary Cirrhosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
12-oxo acid4610.4PDP1, DLAT, PDHX
2dihydrolipoamide46 2511.3PDP1, DLAT, PDHX
3alpha lipoic acid4610.3DLAT, PDHX, PDP1
4mycophenolate mofetil46 52 1212.3CTLA4, IL12A
5Lipoic acid25 1211.3DLAT, PDHX
6alpha-ketoglutarate4610.2DLAT, PDP1, PDHX
7pyruvate4610.1PDHX, PDP1, DLAT
8tyrosine469.6PDP1, IL12RB1, IRF5, POU2AF1, SPIB, CTLA4

GO Terms for genes affiliated with Primary Biliary Cirrhosis

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Primary Biliary Cirrhosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00575910.2DLAT, PDP1, PDHX

Biological processes related to Primary Biliary Cirrhosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of interferon-gamma productionGO:03272910.3IL12RB1, IL12A
2regulation of acetyl-CoA biosynthetic process from pyruvateGO:01051010.2PDP1, DLAT, PDHX
3pyruvate metabolic processGO:00609010.2DLAT, PDP1, PDHX
4cellular metabolic processGO:04423710.1PDP1, DLAT, PDHX
5positive regulation of T cell mediated cytotoxicityGO:00191610.0IL12A, IL12RB1

Molecular functions related to Primary Biliary Cirrhosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-12 receptor bindingGO:00514310.3IL12RB1, IL12A

Products for genes affiliated with Primary Biliary Cirrhosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Biliary Cirrhosis

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet