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
Rising incidence and prevalence of primary biliary cirrhosis: a large population-based study. (24387641)
2014
2
Risk factors for survival and the development of hepatocellular carcinoma in patients with primary biliary cirrhosis. (23857086)
2013
3
Reply to Risk factors associated with hepatocellular carcinoma in primary biliary cirrhosis. (23460401)
2013
4
Connective tissue diseases in primary biliary cirrhosis: a population-based cohort study. (23964148)
2013
5
Role for mycobacterial infection in pathogenesis of primary biliary cirrhosis? (23002357)
2012
6
Tuberculosis is not a risk factor for primary biliary cirrhosis: a review of the literature. (23213506)
2012
7
Scientific publications on primary biliary cirrhosis from 2000 through 2010: an 11-year survey of the literature. (22509409)
2012
8
Autophagy may precede cellular senescence of bile ductular cells in ductular reaction in primary biliary cirrhosis. (21989821)
2012
9
The immunopathology of liver granulomas in primary biliary cirrhosis. (22727562)
2012
10
Early primary biliary cirrhosis: biochemical response to treatment and prediction of long-term outcome. (21703194)
2011
11
Colchicine or methotrexate, with ursodiol, are effective after 20 years in a subset of patients with primary biliary cirrhosis. (21699802)
2011
12
Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort. (21506939)
2011
13
Diagnosis of primary biliary cirrhosis. (22117636)
2011
14
Progress in the genetics of primary biliary cirrhosis. (21538281)
2011
15
Experimental evidence on the immunopathogenesis of primary biliary cirrhosis. (20029462)
2010
16
Celiac disease, primary biliary cirrhosis and helicobacter pylori infection: one link for three diseases. (21244776)
2010
17
Donor influence on outcome in patients undergoing liver transplant for primary biliary cirrhosis. (20565366)
2010
18
Low-dose atorvastatin improves dyslipidemia and vascular function in patients with primary biliary cirrhosis after one year of treatment. (19782361)
2010
19
Increased Siglec-1 expression in monocytes of patients with primary biliary cirrhosis. (20653431)
2010
20
Is there a role for tetrathiomolybdate in the treatment of primary biliary cirrhosis? (20171596)
2010
21
Acute right heart failure and achalasia-like syndrome in a patient with limited cutaneous systemic sclerosis and primary biliary cirrhosis. (20720358)
2010
22
Alternative transporter pathways in patients with untreated early-stage and late-stage primary biliary cirrhosis. (18662272)
2009
23
Ursodeoxycholic acid and primary biliary cirrhosis: EASL and AASLD guidelines. (19864037)
2009
24
Isoform of fibronectin mediates bone loss in patients with primary biliary cirrhosis by suppressing bone formation. (18348696)
2008
25
A novel multidrug-resistance protein 2 gene mutation identifies a subgroup of patients with primary biliary cirrhosis and pruritus. (16628674)
2006
26
From bases to basis: linking genetics to causation in primary biliary cirrhosis. (15880308)
2005
27
Ghrelin/Leptin-imbalance in patients with primary biliary cirrhosis. (15052530)
2004
28
Transverse myelitis occurring in association with primary biliary cirrhosis and Sjogren's syndrome. (12741480)
2003
29
Atrophic corpus gastritis and Helicobacter pylori infection in primary biliary cirrhosis. (11837719)
2002
30
Clinical and biochemical features and therapy responses in primary biliary cirrhosis and primary biliary cirrhosis-autoimmune hepatitis overlap syndrome. (12239904)
2002
31
Anterior uveitis and SjAPgren's syndrome in a patient with primary biliary cirrhosis. (12422919)
2002
32
Autoantibodies of sera from patients with primary biliary cirrhosis recognize the alpha subunit of the decarboxylase component of human branched-chain 2-oxo acid dehydrogenase complex. (11451161)
2001
33
Apoptotic pathways in primary biliary cirrhosis and autoimmune hepatitis. (11454191)
2001
34
Fat-soluble vitamin levels in patients with primary biliary cirrhosis. (11569705)
2001
35
Prediction of the immunodominant epitope of the pyruvate dehydrogenase complex E2 in primary biliary cirrhosis using phage display. (10706737)
2000
36
A patient with primary biliary cirrhosis associated with autoimmune hemolytic anemia. (10755696)
2000
37
In situ nucleic acid detection of PDC-E2, BCOADC-E2, OGDC-E2, PDC-E1alpha, BCOADC-E1alpha, OGDC-E1, and the E3 binding protein (protein X) in primary biliary cirrhosis. (10385636)
1999
38
Tumour necrosis factor alpha and cellular proliferation in primary biliary cirrhosis. (10091104)
1999
39
The immunopathogenesis of primary biliary cirrhosis. (10626157)
1999
40
Triple therapy with ursodeoxycholic acid, prednisone and azathioprine in primary biliary cirrhosis: a 1-year randomized, placebo-controlled study. (9833911)
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
Combined treatment with methotrexate and ursodeoxycholic acid in non-cirrhotic primary biliary cirrhosis. (8669166)
1996
43
Abnormal expression of pyruvate dehydrogenase on bile ducts opens new fields in the pathogenesis of primary biliary cirrhosis]. (7602793)
1995
44
Predictive factors in ursodeoxycholic acid-treated patients with primary biliary cirrhosis: role of serum markers of connective tissue. (8119688)
1994
45
Distribution of pyruvate dehydrogenase dihydrolipoamide acetyltransferase (PDC-E2) and another mitochondrial marker in salivary gland and biliary epithelium from patients with primary biliary cirrhosis. (8188168)
1994
46
Updating prognosis in primary biliary cirrhosis using a time-dependent Cox regression model. PBC1 and PBC2 trial groups. (8253362)
1993
47
Antibody to two forms of dihydrolipoamide acetyltransferase (PDC-E2) in primary biliary cirrhosis. (8336525)
1993
48
Therapeutic effect of ursodeoxycholic acid on early-stage primary biliary cirrhosis. (1685179)
1991
49
Allelic variation in the TNF-beta gene does not explain the low TNF-beta response in patients with primary biliary cirrhosis. (1684248)
1991
50
Primary biliary cirrhosis associated with coeliac disease and dermatitis herpetiformis. (3972148)
1985

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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Sources:
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