PBC
MCID: PRM006
MIFTS: 74

Primary Biliary Cirrhosis (PBC) malady

Gastrointestinal diseases, Liver diseases, Genetic diseases categories

Summaries for Primary Biliary Cirrhosis

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Primary Biliary Cirrhosis, also known as biliary cirrhosis, is related to hepatitis 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, t cells and bone, and related mouse phenotypes are hematopoietic system and immune system.

Wikipedia:63 Primary biliary cirrhosis, often abbreviated PBC, is an autoimmune disease of the liver marked by the... more...

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

Aliases & Classifications for Primary Biliary Cirrhosis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

primary biliary cirrhosis 8 42 10 48 46 30 60
biliary cirrhosis 8 44 60
familial primary biliary cirrhosis 42 60
chronic non-suppurative destructive cholangitis 8
chronic nonsuppurative destructive cholangitis 8
biliary cirrhosis primary 44
biliary liver cirrhosis 8
cirrhosis, cholestatic 8
biliary cirrhosis nos 8
hanot's cirrhosis 60
hanot syndrome 48
pbc 42


External Ids:

Disease Ontology8 DOID:12236
MeSH34 D008105
NCIt39 C27167
ICD10 via Orphanet26 K74.3
SNOMED-CT via Orphanet57 31712002
UMLS via Orphanet61 C0008312, C0859942
ICD1025 K74.3

Related Diseases for Primary Biliary Cirrhosis

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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 178)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis31.7CD40LG, CTLA4
2autoimmune hepatitis31.5DLAT, CD40LG, CTLA4
3cholangitis31.3DLAT
4arthritis30.9CTLA4
5rheumatoid arthritis30.8IRF5, CTLA4, CD40LG, IL12RB1
6systemic lupus erythematosus30.7PDP1, IRF5, CTLA4, CD40LG, IL12RB1
7lupus erythematosus30.7CD40LG
8hepatitis c30.7CD40LG
9celiac disease30.6CTLA4
10sjogren's syndrome30.4DLAT, CD40LG
11multiple sclerosis30.4CTLA4
12crohn's disease30.4TNFSF15
13tuberculosis30.2OGDH, PDP1, IL12RB1
14ulcerative colitis30.2TNFSF15
15liver cirrhosis11.1
16sclerosing cholangitis10.8
17hepatitis a10.8
18liver disease10.8
19hepatocellular carcinoma10.7
20renal tubular acidosis10.6
21hemolytic anemia10.6
22autoimmune hemolytic anemia10.6
23osteoporosis10.6
24glomerulonephritis10.6
25hypertension10.5
26membranous glomerulonephritis10.5
27pernicious anemia10.5
28connective tissue disease10.5
29thyroiditis10.5
30myelitis10.4
31portal hypertension10.4
32hepatitis b10.4
33alcoholic liver cirrhosis10.4
34scleroderma10.4
35reynolds syndrome10.4
36primary pulmonary hypertension10.4
37autoimmune thrombocytopenic purpura10.4
38osteomalacia10.4
39fanconi syndrome10.4
40dermatitis10.4
41esophagitis10.4
42gastritis10.4
43pneumonia10.4
44purpura10.4
45limited scleroderma10.3
46atrophic gastritis10.3
47autoimmune thyroiditis10.3
48chronic cholangitis10.3
49takayasu's arteritis10.3
50steatorrhea10.3

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



Diseases related to primary biliary cirrhosis

Clinical Features for Primary Biliary Cirrhosis

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Sources:
46OMIM
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Clinical features from OMIM:

109720,613007,613008,614220,614221

Clinical synopsis from OMIM:

109720

Drugs & Therapeutics for Primary Biliary Cirrhosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-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 UMLS60/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

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Anatomical Context for Primary Biliary Cirrhosis

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Primary Biliary Cirrhosis:

32
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

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Sources:
36MGI
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MGI Mouse Phenotypes related to Primary Biliary Cirrhosis:

36
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

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Sources:
50PubMed
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Articles related to Primary Biliary Cirrhosis:

(show top 50)    (show all 1065)
idTitleAuthorsYear
1
Chronologic changes of explanted liver volume and the use of ursodeoxycholic acid in patients with end-stage primary biliary cirrhosis. (24298893)
2013
2
Biochemical response to ursodeoxycholic acid predicts survival in a North American cohort of primary biliary cirrhosis patients. (24317935)
2013
3
Sex and age are determinants of the clinical phenotype of primary biliary cirrhosis and response to ursodeoxycholic acid. (23246637)
2013
4
Application and validation of a new histologic staging and grading system for primary biliary cirrhosis. (23269312)
2013
5
Ursodeoxycholic acid improves bilirubin but not albumin in primary biliary cirrhosis: further evidence for nonefficacy. (23984317)
2013
6
13C-methacetin breath test correlates with clinical indices of liver disease severity in patients with primary biliary cirrhosis. (23568968)
2013
7
Chemokine-Chemokine Receptor CCL2-CCR2 and CX3CL1-CX3CR1 Axis May Play a Role in the Aggravated Inflammation in Primary Biliary Cirrhosis. (24185682)
2013
8
Primary biliary cirrhosis in a rheumatoid arthritis patient treated with rituximab, a case-based review. (22042492)
2012
9
Primary biliary cirrhosis in Southern Israel: a 20 year follow up study. (23022449)
2012
10
Cytotoxic T-lymphocyte associated antigen-4 gene polymorphisms and primary biliary cirrhosis: a systematic review. (22414241)
2012
11
Patients with autoimmune hepatitis who have antimitochondrial antibodies need long-term follow-up to detect late development of primary biliary cirrhosis. (22366178)
2012
12
Serum surrogate markers of liver fibrosis in primary biliary cirrhosis. (21238899)
2011
13
Ulcerative colitis complicated with primary biliary cirrhosis. (22001458)
2011
14
Functional capacity is significantly impaired in primary biliary cirrhosis and is related to orthostatic symptoms. (21593676)
2011
15
Epithelial cell specificity and apotope recognition by serum autoantibodies in primary biliary cirrhosis. (21488079)
2011
16
Assessment of liver function in primary biliary cirrhosis using Gd-EOB-DTPA-enhanced liver MRI. (20887325)
2010
17
Tubulointerstitial nephritis and renal tubular acidosis of different types are rare but important complications of primary biliary cirrhosis. (20466658)
2010
18
Association analysis of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with primary biliary cirrhosis in Japanese patients. (20557968)
2010
19
Early primary biliary cirrhosis: a new association with erythema nodosum of unknown origin. (20706542)
2010
20
Anti-parietal cell autoantibodies (PCA) in primary biliary cirrhosis: a putative marker for recurrence after orthotopic liver transplantation? (20526013)
2010
21
Fatigue in primary biliary cirrhosis. (20458334)
2010
22
Phenotypical and functional alterations of CD8 regulatory T cells in primary biliary cirrhosis. (20638239)
2010
23
Latest and emerging therapies for primary biliary cirrhosis and primary sclerosing cholangitis. (20425480)
2010
24
Common genetic variation and haplotypes of the anion exchanger SLC4A2 in primary biliary cirrhosis. (19491853)
2009
25
Altered expression of TLR homolog RP105 on monocytes hypersensitive to LPS in patients with primary biliary cirrhosis. (17448566)
2007
26
AMA production in primary biliary cirrhosis is promoted by the TLR9 ligand CpG and suppressed by potassium channel blockers. (17256753)
2007
27
Detection of the granulysin expression in patients with primary biliary cirrhosis and its clinical significance]. (17196145)
2006
28
Cytokeratin-7, cytokeratin-19, and c-Kit: Immunoreaction during the evolution stages of primary biliary cirrhosis. (16963314)
2006
29
A case of primary biliary cirrhosis accompanied with fibrinogen storage disease. (15991842)
2005
30
Decreased serum leptin levels in primary biliary cirrhosis: a link between metabolism and autoimmunity? (16126961)
2005
31
Enzyme inhibition assay for pyruvate dehydrogenase complex: clinical utility for the diagnosis of primary biliary cirrhosis. (16425376)
2005
32
Coeliac disease associated with SjAPgren's syndrome, renal tubular acidosis, primary biliary cirrhosis and autoimmune hyperthyroidism. (15285530)
2004
33
Hepatopulmonary syndrome in a patient with primary biliary cirrhosis. (15283179)
2004
34
High serum osteoprotegerin and low RANKL in primary biliary cirrhosis. (12663228)
2003
35
Primary biliary cirrhosis and autoimmune cholangitis are not associated with coeliac disease in Crete. (11914139)
2002
36
Nucleotide variations amongst V(H)Genes of AMA-producing B cell clones in primary biliary cirrhosis. (10756087)
2000
37
Destruction of bile ducts in primary biliary cirrhosis. (10976014)
2000
38
Anti-idiotypic antibodies to anti-PDC-E2 in primary biliary cirrhosis and normal subjects. (10051459)
1999
39
Persistence of autoantibodies against recombinant mitochondrial and nuclear pore proteins after orthotopic liver transplantation for primary biliary cirrhosis. (9376077)
1997
40
Hospital prevalence of asymptomatic primary biliary cirrhosis: 4-year study based on analysis of 4468 consecutive in-patients. (9021716)
1996
41
Autoantibodies to BCOADC-E2 in patients with primary biliary cirrhosis recognize a conformational epitope. (7543435)
1995
42
Abnormal expression of PDC-E2 on the apical surface of biliary epithelial cells in patients with antimitochondrial antibody-negative primary biliary cirrhosis. (7590661)
1995
43
DNA typing of HLA class II genes; DRB1*0803 increases the susceptibility of Japanese to primary biliary cirrhosis. (7699227)
1994
44
Immunologic effects of ursodeoxycholic acid in primary biliary cirrhosis. (8425102)
1993
45
Dipeptidyl-peptidase IV of human lymphocytes in patients with primary biliary cirrhosis and UDCA therapy]. (7483686)
1993
46
Characterization and epitope mapping of human monoclonal antibodies to PDC-E2, the immunodominant autoantigen of primary biliary cirrhosis. (1283300)
1992
47
Parameters of calcium metabolism during a pilot study of cyclosporin A in patients with symptomatic primary biliary cirrhosis. (1782726)
1991
48
SjAPgren's syndrome and primary biliary cirrhosis: presence of autoantibodies to purified mitochondrial 2-OXO acid dehydrogenases. (1703233)
1990
49
A case of nodular regenerative hyperplasia of the liver, CREST syndrome, and primary biliary cirrhosis. (2253925)
1990
50
Primary biliary cirrhosis, cutaneous capillaritis, and IgM-associated membranous glomerulonephritis. (851744)
1977

Genetic Variations for Primary Biliary Cirrhosis

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Expression for genes affiliated with Primary Biliary Cirrhosis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
29KEGG, 51QIAGEN, 53Reactome, 12EMD Millipore, 37NCBI BioSystems Database
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Compounds for genes affiliated with Primary Biliary Cirrhosis

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Sources:
44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank
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Compounds related to Primary Biliary Cirrhosis according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
12-oxo acid4411.1DLAT, PDHX, PDP1, OGDH
2dihydrolipoamide44 2412.1OGDH, PDP1, PDHX, DLAT
3alpha lipoic acid4411.0OGDH, PDP1, PDHX, DLAT
4alpha-ketoglutarate4411.0DLAT, PDHX, PDP1, OGDH
5pyruvate4411.0DLAT, PDHX, PDP1, OGDH
6mycophenolate mofetil44 49 1112.9CTLA4, CD40LG, IL12A
7lipoamide44 2411.8PDP1, OGDH
8Lipoic Acid11 2411.7PDHX, DLAT
9il-124410.6IL12RB1, CD40LG
10dihydrolipoic acid44 1111.6DLAT, OGDH
11thiamine pyrophosphate44 2411.5PDP1, OGDH
12hemocyanin4410.3CD40LG, CTLA4

GO Terms for genes affiliated with Primary Biliary Cirrhosis

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Biliary Cirrhosis

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet