PBC
MCID: PRM006
MIFTS: 69

Primary Biliary Cirrhosis (PBC) malady

Gastrointestinal, Liver, Genetic categories

Summaries for Primary Biliary Cirrhosis

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 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 hepatitis c and autoimmune hepatitis. 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 Allograft rejection and Pyruvate metabolism. 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, brain and kidney, and related mouse phenotypes are hematopoietic system and immune system.

Wikipedia:64 Primary biliary cirrhosis, often abbreviated PBC, is an autoimmune disease of the liver marked by the... more...

Description from OMIM:47 109720,613007,613008,614220,614221

Aliases & Classifications for Primary Biliary Cirrhosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 49Orphanet, 47OMIM, 31LifeMap Discovery™, 61UMLS, 45Novoseek, 57SNOMED-CT, 35MeSH, 40NCIt, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Gastrointestinal, Liver


Characteristics (Orphanet epidemiological data):

49
primary biliary cirrhosis:
Inheritance: Multigenic/multifactorial; Prevalence: 1-5/10000; Age of onset: Adulthood


Aliases & Descriptions:

primary biliary cirrhosis 8 43 10 49 47 31 61
biliary cirrhosis 8 45 61
familial primary biliary cirrhosis 43 61
chronic non-suppurative destructive cholangitis 8
chronic nonsuppurative destructive cholangitis 8
biliary cirrhosis primary 45
biliary liver cirrhosis 8
cirrhosis, cholestatic 8
biliary cirrhosis nos 8
hanot's cirrhosis 61
hanot syndrome 49
pbc 43


External Ids:

Disease Ontology8 DOID:12236
MeSH35 D008105
NCIt40 C27167
ICD10 via Orphanet26 K74.3
SNOMED-CT via Orphanet58 31712002
UMLS via Orphanet62 C0008312, C0859942
ICD1025 K74.3

Related Diseases for Primary Biliary Cirrhosis

Sources:
17GeneCards, 18GeneDecks
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 165)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis c31.6CD40LG
2autoimmune hepatitis31.6DLAT, CD40LG, CTLA4
3arthritis30.9CTLA4
4systemic lupus erythematosus30.7PDP1, IRF5, CTLA4, CD40LG, IL12RB1
5nephritis30.7CD40LG
6celiac disease30.7CTLA4
7sjogren's syndrome30.4DLAT, CD40LG
8tuberculosis30.2OGDH, PDP1, IL12RB1
9crohn's disease30.2TNFSF15
10ulcerative colitis30.2TNFSF15
11hepatitis b11.1
12hepatitis a11.1
13sclerosing cholangitis10.9
14primary sclerosing cholangitis10.9
15hepatitis d10.8
16hepatitis e10.8
17renal tubular acidosis10.6
18primary renal tubular acidosis10.6
19autoimmune hemolytic anemia10.6
20osteoporosis10.6
21n syndrome10.6
22nodular regenerative hyperplasia10.6
23membranous glomerulonephritis10.5
24biliary cirrhosis, primary, 110.5
25pernicious anemia10.5
26myelitis10.5
27portal hypertension10.5
28alcoholic liver cirrhosis10.5
29reynolds syndrome10.5
30transverse myelitis10.5
31primary pulmonary hypertension10.4
32autoimmune thrombocytopenic purpura10.4
33osteomalacia10.4
34fanconi syndrome10.4
35thyroiditis10.4
36polymyositis10.4
37autonomic dysfunction10.4
38biliary cirrhosis, primary, 210.4
39h. pylori infection10.4
40limited scleroderma10.3
41atrophic gastritis10.3
42autoimmune thyroiditis10.3
43chronic cholangitis10.3
44steatorrhea10.3
45xanthomatosis10.3
46char syndrome10.3
47autoimmune pancreatitis10.3
48hemangioendothelioma10.3
49retroperitoneal fibrosis10.3
50mycobacterium gordonae10.3

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



Diseases related to primary biliary cirrhosis

Clinical Features for Primary Biliary Cirrhosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

109720,613007,613008,614220,614221

Clinical synopsis from OMIM:

109720

Drugs & Therapeutics for Primary Biliary Cirrhosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

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

Anatomical Context for Primary Biliary Cirrhosis

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Primary Biliary Cirrhosis:

33
Liver, Brain, Kidney, Lymph node, Lung, Bone marrow, Heart, Small intestine, Thyroid, Salivary gland, Breast, Monocytes, Nk cells, T cells, B cells, Endothelial, Fetal brain, Fetal liver, Fetal lung, Fetal thyroid

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Primary Biliary Cirrhosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539711.2IRF5, CTLA4, POU2AF1, CD40LG, IL12RB1, SLC4A2
2MP:000538711.0SPIB, TNFSF15, IRF5, CTLA4, POU2AF1, CD40LG

Publications for Primary Biliary Cirrhosis

Sources:
51PubMed
See all sources

Articles related to Primary Biliary Cirrhosis:

(show top 50)    (show all 1066)
idTitleAuthorsYear
1
Infiltration of inflammatory cells expressing mitochondrial proteins around bile ducts and in biliary epithelial layer may be involved in the pathogenesis in primary biliary cirrhosis. (24407434)
2014
2
Differential Serum Levels of Eosinophilic Eotaxins in Primary Sclerosing Cholangitis, Primary Biliary Cirrhosis, and Autoimmune Hepatitis. (24168449)
2013
3
Environment and primary biliary cirrhosis: electrophilic drugs and the induction of AMA. (23352659)
2013
4
Primary biliary cirrhosis developing in a patient with Crohn's disease during the course of infliximab treatment: the first case in the literature. (23583098)
2013
5
Association of human leukocyte antigen class II with susceptibility to primary biliary cirrhosis: a systematic review and meta-analysis. (24265779)
2013
6
Clinical profile of primary biliary cirrhosis with features of autoimmune hepatitis: Importance of corticosteroid therapy. (23879195)
2013
7
Randomized trial comparing monthly ibandronate and weekly alendronate for osteoporosis in patients with primary biliary cirrhosis. (23686738)
2013
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
Metabolomic profiling of 17 bile acids in serum from patients with primary biliary cirrhosis and primary sclerosing cholangitis: a pilot study. (22169272)
2012
10
Primary biliary cirrhosis in a genetically homogeneous population: disease associations and familial occurrence rates. (22898439)
2012
11
Rheumatoid arthritis and primary biliary cirrhosis: cause, consequence, or coincidence? (23150824)
2012
12
Autoimmune hepatitis type 2 associated with an unexpected and transient presence of primary biliary cirrhosis-specific antimitochondrial antibodies: a case study and review of the literature. (22816667)
2012
13
Analysis of the clinical relevance of antimitochondrial antibodies to the I^- and I^-subunits of the F1F0-ATPase in patients with primary biliary cirrhosis. (23095491)
2012
14
Approaches to the pathogenesis of primary biliary cirrhosis through animal models. (21862437)
2012
15
Overlap syndrome of autoimmune hepatitis and primary biliary cirrhosis triggered by fluvastatin. (21503830)
2011
16
A case of primary biliary cirrhosis which developed eight years after diagnosis of systemic lupus erythematosus. (21325764)
2011
17
'It's as if PBC didn't exist': the illness experience of women affected by primary biliary cirrhosis. (21678188)
2011
18
The serological profile of the autoimmune hepatitis/primary biliary cirrhosis overlap syndrome. (20054319)
2010
19
Methotrexate for primary biliary cirrhosis: who is to be trusted? (20945095)
2010
20
Primary biliary cirrhosis associated with pernicious anemia. (20841590)
2010
21
Primary biliary cirrhosis-autoimmune hepatitis overlap syndrome concomitant with systemic sclerosis, immune thrombocytopenic purpura. (19952485)
2009
22
Liver histopathology, clinical features and prognostic factors of primary biliary cirrhosis: an analysis of 60 cases]. (18578999)
2008
23
Etiopathogenesis of primary biliary cirrhosis. (18528930)
2008
24
Bone disease in primary biliary cirrhosis and renal tubular acidosis. (17439515)
2007
25
The PTPN22 1858T variant is not associated with primary biliary cirrhosis. (16671954)
2006
26
Antibody titer to gp210-C terminal peptide as a clinical parameter for monitoring primary biliary cirrhosis. (15710222)
2005
27
Altered monocyte responses to defined TLR ligands in patients with primary biliary cirrhosis. (16175622)
2005
28
Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosis. (16129198)
2005
29
Is osteoporosis a peculiar association with primary biliary cirrhosis? (16149144)
2005
30
Genetic polymorphisms of toll-like receptor 9 influence the immune response to CpG and contribute to hyper-IgM in primary biliary cirrhosis. (15878652)
2005
31
Genetic association of cytokines polymorphisms with autoimmune hepatitis and primary biliary cirrhosis in the Chinese. (15884119)
2005
32
Expression of adhesion molecules on mature cholangiocytes in canal of Hering and bile ductules in wedge biopsy samples of primary biliary cirrhosis. (16038038)
2005
33
Natural history of primary biliary cirrhosis. (14594131)
2003
34
Quantitation and phenotypic analysis of natural killer T cells in primary biliary cirrhosis using a human CD1d tetramer. (12360465)
2002
35
Antimitochondrial autoantibodies in saliva and sera from patients with primary biliary cirrhosis. (11851838)
2001
36
Immunoglobulin gene usage and immunohistochemical characteristics of human monoclonal antibodies to the mitochondrial autoantigens of primary biliary cirrhosis induced in the XenoMouse. (11584357)
2001
37
Collagen type Ialpha1 and vitamin D receptor gene polymorphisms and bone mass in primary biliary cirrhosis. (11230734)
2001
38
Single nucleotide polymorphisms of the mannose-binding lectin are associated with susceptibility to primary biliary cirrhosis. (11712863)
2001
39
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
40
Autoreactive responses to pyruvate dehydrogenase complex in the pathogenesis of primary biliary cirrhosis. (10807520)
2000
41
Biochemistry and autoimmune response to the 2-oxoacid dehydrogenase complexes in primary biliary cirrhosis. (9089910)
1997
42
Ductular expression of autoantigens in primary biliary cirrhosis. (9170196)
1997
43
Reduced numbers of CD8+ T cells and B cell-expression of Leu-8 antigen in peripheral blood of patients with primary biliary cirrhosis. (7525431)
1994
44
Enzyme inhibitory autoantibodies to pyruvate dehydrogenase complex in primary biliary cirrhosis: applications of a semiautomated assay. (7927255)
1994
45
Enzyme-linked immunosorbent assays for the determination of IgG, IgA, and IgM autoantibodies to pyruvate dehydrogenase in primary biliary cirrhosis. (7919436)
1994
46
Aspartate aminotransferase-linked immunoglobulin complexes in serum of a patient with primary biliary cirrhosis. (8012513)
1994
47
The results of a randomized double blind controlled trial evaluating malotilate in primary biliary cirrhosis. A European multicentre study group. (8445237)
1993
48
Comparative immunoreactive profiles of Japanese and American patients with primary biliary cirrhosis against mitochondrial autoantigens. (1483064)
1992
49
A multi-center double-blind controlled trial of ursodeoxycholic acid for primary biliary cirrhosis. (1980654)
1990
50
Gastric antral vascular ectasia and primary biliary cirrhosis. (3265915)
1988

Genetic Variations for Primary Biliary Cirrhosis

Expression for genes affiliated with Primary Biliary Cirrhosis

Sources:
1BioGPS, 15Gene 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

Sources:
30KEGG, 52QIAGEN, 54Reactome, 12EMD Millipore, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Primary Biliary Cirrhosis

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank
See all sources

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

(show all 12)
idCompoundScoreTop Affiliating Genes
12-oxo acid4511.1DLAT, PDHX, PDP1, OGDH
2dihydrolipoamide45 2412.1OGDH, PDP1, PDHX, DLAT
3alpha lipoic acid4511.0OGDH, PDP1, PDHX, DLAT
4alpha-ketoglutarate4511.0DLAT, PDHX, PDP1, OGDH
5pyruvate4511.0DLAT, PDHX, PDP1, OGDH
6mycophenolate mofetil45 50 1112.9CTLA4, CD40LG, IL12A
7lipoamide45 2411.8PDP1, OGDH
8Lipoic Acid11 2411.7PDHX, DLAT
9il-124510.6IL12RB1, CD40LG
10dihydrolipoic acid45 1111.6DLAT, OGDH
11thiamine pyrophosphate45 2411.5PDP1, OGDH
12hemocyanin4510.3CD40LG, CTLA4

GO Terms for genes affiliated with Primary Biliary Cirrhosis

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00575910.8DLAT, PDHX, PDP1, OGDH

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

idNameGO IDScoreTop Affiliating Genes
1regulation of acetyl-CoA biosynthetic process from pyruvateGO:01051010.8DLAT, PDHX, PDP1
2pyruvate metabolic processGO:00609010.7DLAT, PDHX, PDP1
3cellular metabolic processGO:04423710.7OGDH, PDP1, PDHX, DLAT
4positive regulation of interleukin-12 productionGO:03273510.7CD40LG, IRF5
5positive regulation of T cell mediated cytotoxicityGO:00191610.4IL12RB1, IL12A

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-12 receptor bindingGO:00514310.7IL12RB1, IL12A

Products for genes affiliated with Primary Biliary Cirrhosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Biliary Cirrhosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet