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
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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, Endothelial, Salivary gland, Heart, Bone marrow, Breast, Lymph node, Kidney, Brain, 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
Clinical significance and prevalence of anti-Saccharomyces cerevisiae antibody in Chinese patients with primary biliary cirrhosis. (22983759)
2013
2
PPARI^ ligand attenuates portal inflammation in the MRL-lpr mouse: a new strategy to restrain cholangiopathy in primary biliary cirrhosis. (23397546)
2013
3
Waiting list mortality of patients with primary biliary cirrhosis in the Japanese transplant allocation system. (23478939)
2013
4
BAFF promotes regulatory T-cell apoptosis and blocks cytokine production by activating B cells in primary biliary cirrhosis. (23681290)
2013
5
Reduced thoracic fluid content in early-stage primary biliary cirrhosis that associates with impaired cardiac inotropy. (23868409)
2013
6
Effect of the polymorphisms of tumor necrosis factor-I+ gene on the susceptibility to primary biliary cirrhosis: a meta-analysis. (23011034)
2012
7
Comparative analysis of portal cell infiltrates in antimitochondrial autoantibody-positive versus antimitochondrial autoantibody-negative primary biliary cirrhosis. (22135136)
2012
8
Primary biliary cirrhosis and cancer risk: a systematic review and meta-analysis. (22504852)
2012
9
Targeting miR-506 in primary biliary cirrhosis to support the HCO3- umbrella. (22766146)
2012
10
The long-term effect of ursodeoxycholic acid on laboratory liver parameters in biochemically non-advanced primary biliary cirrhosis. (20810227)
2011
11
The impact of biopsychosocial factors on quality of life: women with primary biliary cirrhosis on waiting list and post liver transplantation. (21722273)
2011
12
Asymptomatic primary biliary cirrhosis is not associated with increased frequency of cardiovascular disease. (21603031)
2011
13
Ultrasound measurement of visceral fat in patients with primary biliary cirrhosis. (22046877)
2011
14
A follow-up study of modafinil for the treatment of daytime somnolence and fatigue in primary biliary cirrhosis. (20536714)
2010
15
Impaired cerebral autoregulation in primary biliary cirrhosis: implications for the pathogenesis of cognitive decline. (20492494)
2010
16
Biliary apotopes and anti-mitochondrial antibodies activate innate immune responses in primary biliary cirrhosis. (20568301)
2010
17
PML nuclear body component Sp140 is a novel autoantigen in primary biliary cirrhosis. (19861957)
2010
18
Primary biliary cirrhosis is associated with falls and significant fall related injury. (20061369)
2010
19
Gastric variceal bleeding uncovering a rare association of CREST syndrome, primary biliary cirrhosis, nodular regenerative hyperplasia and pulmonary hypertension. (20485183)
2010
20
Application of a new histological staging and grading system for primary biliary cirrhosis to liver biopsy specimens: Interobserver agreement. (20403042)
2010
21
Autoimmune hemolityc anemia concomitant with sequential autoimmune hepatitis-primary biliary cirrhosis overlap syndrome and Hashimoto's thyroiditis: a new entity of autoimmune polyendocrine syndrome. (19542751)
2009
22
The pathogenesis of primary biliary cirrhosis. (19630465)
2009
23
Interacting alleles of the coinhibitory immunoreceptor genes cytotoxic T-lymphocyte antigen 4 and programmed cell-death 1 influence risk and features of primary biliary cirrhosis. (18041714)
2008
24
Recurrence of primary biliary cirrhosis and primary sclerosing cholangitis after liver transplantation in Japan. (17931201)
2007
25
HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis: a large-scale study. (16941709)
2006
26
Increased expression of nuclear envelope gp210 antigen in small bile ducts in primary biliary cirrhosis. (16337775)
2006
27
Hyperhomocysteinemia and hypercoagulability in primary biliary cirrhosis. (16570355)
2006
28
Serum leptin, soluble leptin receptor, free leptin index and bone mineral density in patients with primary biliary cirrhosis. (16093869)
2005
29
BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis. (14999697)
2004
30
Estrogen receptors in cholangiocytes and the progression of primary biliary cirrhosis. (15645536)
2004
31
Adaptive changes in hepatobiliary transporter expression in primary biliary cirrhosis. (12763363)
2003
32
Evaluation of newly developed ELISA using "MESACUP-2 test mitochondrial M2" kit for the diagnosis of primary biliary cirrhosis. (12726929)
2003
33
Clinical characteristics of primary biliary cirrhosis: a report of 45 cases]. (11940315)
2002
34
Improved liver tests and greater biliary enrichment with high dose ursodeoxycholic acid in early stage primary biliary cirrhosis. (12236487)
2002
35
Expression of Bcl-2 familial proteins is reduced in small bile duct lesions of primary biliary cirrhosis. (10685631)
2000
36
The pyruvate dehydrogenase complex as a target autoantigen in primary biliary cirrhosis. (10976013)
2000
37
Association of clonally expanded T cells with the syndrome of primary biliary cirrhosis and limited scleroderma. (10347101)
1999
38
Is there a serological difference between men and women with primary biliary cirrhosis? (10484012)
1999
39
Analysis of serum cytokine levels in primary biliary cirrhosis patients and healthy adults. (9524290)
1998
40
Antibody to carbonic anhydrase II is present in primary biliary cirrhosis (PBC) irrespective of antimitochondrial antibody status. (9844056)
1998
41
Coincidence of scleroderma and primary biliary cirrhosis. Results of a systematic study of a dermatologic patient sample]. (9642556)
1998
42
Immunohistochemical analysis of adhesion molecules in the micro-environment of portal tracts in relation to aberrant expression of PDC-E2 and HLA-DR on the bile ducts in primary biliary cirrhosis. (7538164)
1995
43
Parenteral calcitonin for metabolic bone disease associated with primary biliary cirrhosis. (8076921)
1994
44
Abnormal expression of anion exchanger genes in primary biliary cirrhosis. (8335211)
1993
45
Dipeptidyl peptidase IV of peripheral blood lymphocytes in patients with primary biliary cirrhosis]. (8096665)
1993
46
Lipoylated and unlipoylated domains of human PDC-E2 as autoantigens in primary biliary cirrhosis: significance of lipoate attachment. (7694896)
1993
47
Primary biliary cirrhosis: relation between hepatic function and pulmonary function in patients who never smoked. (2050328)
1991
48
Antibodies against mitochondrial dehydrogenase complexes in primary biliary cirrhosis. (2188870)
1990
49
Porokeratosis in primary biliary cirrhosis during plasmapheresis. (3771845)
1986
50
Pemphigus erythematosus, primary biliary cirrhosis, and D-penicillamine: report of a case. (4008691)
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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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