PBC
MCID: PRM006
MIFTS: 73

Primary Biliary Cirrhosis (PBC) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Liver diseases, Immune diseases categories
Download this MalaCard

Summaries for Primary Biliary Cirrhosis

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 based summary: Primary Biliary Cirrhosis, also known as biliary cirrhosis, is related to autoimmune hepatitis and systemic lupus erythematosus, and has symptoms including 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:65 Primary biliary cirrhosis, often abbreviated PBC, is an autoimmune disease of the liver marked by the... more...

Descriptions from OMIM:46 109720,613007,613008,614220,614221

Aliases & Classifications for Primary Biliary Cirrhosis

About this section
Sources:
30LifeMap Discovery®, 8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Primary Biliary Cirrhosis, Aliases & Descriptions:

Name: Primary Biliary Cirrhosis 30 8 42 10 48 46 62
Biliary Cirrhosis 8 44 62
Familial Primary Biliary Cirrhosis 42 62
Chronic Non-Suppurative Destructive Cholangitis 8
Cholangitis, Chronic Nonsuppurative Destructive 62
Chronic Nonsuppurative Destructive Cholangitis 8
Biliary Cirrhosis Primary 44
 
Liver Cirrhosis, Biliary 62
Biliary Liver Cirrhosis 8
Cirrhosis, Cholestatic 8
Hanot's Cirrhosis 62
Hanot Syndrome 48
Pbc 42


Classifications:

Orphanet: 48 
Rare hepatic diseases


Characteristics (Orphanet epidemiological data):

48
primary biliary cirrhosis:
Inheritance: Multigenic/multifactorial; Prevalence: 1-5/10000; Age of onset: Adulthood


External Ids:

Disease Ontology8 DOID:12236
MeSH34 D008105
NCIt39 C27167
ICD10 via Orphanet26 K74.3
UMLS via Orphanet63 C0008312, C0859942
ICD1025 K74.3

Related Diseases for Primary Biliary Cirrhosis

About this section

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 197)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune hepatitis32.2CTLA4, DLAT
2systemic lupus erythematosus31.0IRF5, IL12RB1, PDP1, CTLA4
3ulcerative colitis30.2IL12RB1, TNFSF15, CTLA4
4hepatitis11.2
5cholangitis11.0
6sclerosing cholangitis10.9
7primary sclerosing cholangitis10.9
8hepatocellular carcinoma10.8
9liver disease10.7
10renal tubular acidosis10.7
11arthritis10.7
12hemolytic anemia10.7
13glomerulonephritis10.6
14osteoporosis10.6
15rheumatoid arthritis10.6
16blindness10.6
17hypertension10.6
18autoimmune hemolytic anemia10.6
19nodular regenerative hyperplasia10.6
20membranous glomerulonephritis10.6
21hepatitis c10.5
22pernicious anemia10.5
23connective tissue disease10.5
24lupus erythematosus10.5
25thyroiditis10.5
26reynolds syndrome10.5
27nephritis10.5
28celiac disease10.5
29myelitis10.5
30portal hypertension10.5
31crest syndrome10.5
32scleroderma10.5
33transverse myelitis10.5
34pyruvate decarboxylase deficiency10.5DLAT, PDHX
35lactic acidosis10.4PDP1, PDHX
36pulmonary hypertension10.4
37fanconi syndrome10.4
38osteomalacia10.4
39esophagitis10.4
40gastritis10.4
41pneumonia10.4
42purpura10.4
43polymyositis10.4
44autonomic dysfunction10.4
45endotheliitis10.4
46galactosemia10.4PDHX, CTLA4, DLAT, PDP1
47leigh disease10.3PDHX, PDP1
48cholangiocarcinoma10.3
49hepatitis b10.3
50multiple sclerosis10.3

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

Symptoms by clinical synopsis from OMIM:

109720

Clinical features from OMIM:

109720,613007,613008,614220,614221

HPO human phenotypes related to Primary Biliary Cirrhosis:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 biliary cirrhosis HP:0002613

Drugs & Therapeutics for Primary Biliary Cirrhosis

About this section

Drug clinical trials:

Search ClinicalTrials for Primary Biliary Cirrhosis

Search NIH Clinical Center for Primary Biliary Cirrhosis

Inferred drug relations via UMLS62/NDF-RT40:

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

MalaCards organs/tissues related to Primary Biliary Cirrhosis:

32
Liver, T cells, Bone, B cells, Testes, Thyroid, Monocytes, Lung, Heart, Salivary gland, Endothelial, Bone marrow, Lymph node, Brain, Kidney, Breast, 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

MGI Mouse Phenotypes related to Primary Biliary Cirrhosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053879.9SPIB, TNFSF15, POU2AF1, IRF5, IL12A, IL12RB1
2MP:00053979.6SPIB, TNFSF15, POU2AF1, IRF5, IL12A, IL12RB1

Publications for Primary Biliary Cirrhosis

About this section

Articles related to Primary Biliary Cirrhosis:

(show top 50)    (show all 1076)
idTitleAuthorsYear
1
Follicles, germinal centers and immune mechanisms in primary biliary cirrhosis. (25294750)
2014
2
Aberrant TGF-I^1 signaling contributes to the development of primary biliary cirrhosis in murine model. (24124327)
2013
3
Clinical significance and prevalence of anti-Saccharomyces cerevisiae antibody in Chinese patients with primary biliary cirrhosis. (22983759)
2013
4
Comparative proteomics study on liver mitochondria of primary biliary cirrhosis mouse model. (23586776)
2013
5
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
6
Sleep-Wake profiles in patients with primary biliary cirrhosis. (23173839)
2013
7
Diagnostic and clinical utility of antibodies against the nuclear body promyelocytic leukaemia and Sp100 antigens in patients with primary biliary cirrhosis. (22503841)
2012
8
Polymorphisms of genes related to endothelial cells are associated with primary biliary cirrhosis patients of Cretan origin. (22609442)
2012
9
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
10
Effect of the polymorphisms of tumor necrosis factor-I+ gene on the susceptibility to primary biliary cirrhosis: a meta-analysis. (23011034)
2012
11
Fatigue in primary biliary cirrhosis. (23089057)
2012
12
The role of natural killer (NK) and NK T cells in the loss of tolerance in murine primary biliary cirrhosis. (22519590)
2012
13
Evaluation of langerhans cell infiltrate by CD1a immunostain in liver biopsy for the diagnosis of primary biliary cirrhosis. (22498823)
2012
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
Liver histopathology, clinical features and prognostic factors of primary biliary cirrhosis: an analysis of 60 cases]. (18578999)
2008
28
Clinical features of 107 autoimmune hepatitis patients and 30 of them with AIH-primary biliary cirrhosis overlap syndrome]. (18510851)
2008
29
Serum reactivity against bacterial pyruvate dehydrogenase: increasing the specificity of anti-mitochondrial antibodies for the diagnosis of primary biliary cirrhosis. (17162370)
2006
30
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
31
Association of coeliac disease with primary biliary cirrhosis in Poland. (12560760)
2003
32
Transverse myelitis occurring in association with primary biliary cirrhosis and Sjogren's syndrome. (12741480)
2003
33
Natural history of primary biliary cirrhosis. (14594131)
2003
34
Epitope mapping on E1alpha subunit of pyruvate dehydrogenase complex with autoantibodies of patients with primary biliary cirrhosis. (14708897)
2003
35
Enhanced expression of Bcl-2 in lymphocytes infiltrating into the liver of patients with primary biliary cirrhosis. (12011972)
2002
36
Defective regulation of cholangiocyte Cl-/HCO3(-) and Na+/H+ exchanger activities in primary biliary cirrhosis. (12029638)
2002
37
Primary biliary cirrhosis: lessons learned from an organ-specific disease. (11918275)
2001
38
Nucleotide variations amongst V(H)Genes of AMA-producing B cell clones in primary biliary cirrhosis. (10756087)
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
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

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 events37
10.3IL12A, IL12RB1
3
Show member pathways
10.2IL12RB1, IL12A, CTLA4
4
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
10.2DLAT, PDP1, PDHX

Compounds for genes affiliated with Primary Biliary Cirrhosis

About this section
Sources:
44Novoseek, 24HMDB, 50PharmGKB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
12-oxo acid4410.4PDP1, DLAT, PDHX
2dihydrolipoamide44 2411.3PDP1, DLAT, PDHX
3alpha lipoic acid4410.3DLAT, PDHX, PDP1
4mycophenolate mofetil44 50 1112.3CTLA4, IL12A
5Lipoic acid24 1111.3DLAT, PDHX
6alpha-ketoglutarate4410.2DLAT, PDP1, PDHX
7pyruvate4410.1PDHX, PDP1, DLAT
8tyrosine449.6PDP1, IL12RB1, IRF5, POU2AF1, SPIB, CTLA4

GO Terms for genes affiliated with Primary Biliary Cirrhosis

About this section

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

Sources for Primary Biliary Cirrhosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet