PSC
MCID: PRM054
MIFTS: 57

Primary Sclerosing Cholangitis (PSC) malady

Liver category

Summaries for Primary Sclerosing Cholangitis

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Primary sclerosing cholangitis (psc) is characterized by inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis), narrowing of the ducts, and a buildup of bile in the liver. early signs and symptoms include extreme tiredness, abdominal pain, and itchiness. as the condition worsens it may cause jaundice, an enlarged spleen, and eventually liver cirrhosis and failure. other complications may include weight loss, vitamin deficiency, and osteoporosis. many people with psc develop other autoimmune conditions such as inflammatory bowel disease, type 1 diabetes, celiac disease, or thyroid disease. psc is also a risk factor for cancer of the bile ducts (cholangiocarcinoma). last updated: 3/4/2013

MalaCards: Primary Sclerosing Cholangitis, also known as cholangitis, primary sclerosing, is related to sclerosing cholangitis and ulcerative colitis. An important gene associated with Primary Sclerosing Cholangitis is PSC (Cholangitis, primary sclerosing), and among its related pathways is Organic cation/anion/zwitterion transport. The compounds moxa and cirazoline have been mentioned in the context of this disorder. Affiliated tissues include lymph node, spleen and small intestine, and related mouse phenotypes are tumorigenesis and immune system.

Genetics Home Reference:21 Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver.

Wikipedia:64 Primary sclerosing cholangitis (PSC) is a disease of the bile ducts that causes inflammation and... more...

Description from OMIM:47 602114,613806

Aliases & Classifications for Primary Sclerosing Cholangitis

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 49Orphanet, 47OMIM, 61UMLS, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Liver


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

primary sclerosing cholangitis 43 21 49 47 61
cholangitis, primary sclerosing 43 47
sclerosing cholangitis 43 21
psc 21 49
cholangitis primary sclerosing 45
cholangitis, sclerosing 61


External Ids:

MESH via Orphanet36 C536419
ICD10 via Orphanet26 K83.0
SNOMED-CT via Orphanet58 197441003
UMLS via Orphanet62 C0566602

Related Diseases for Primary Sclerosing Cholangitis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Primary Sclerosing Cholangitis family:

sclerosing cholangitis

Diseases related to Primary Sclerosing Cholangitis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 127)
idRelated DiseaseScoreTop Affiliating Genes
1sclerosing cholangitis32.4GPBAR1
2ulcerative colitis31.6SLC22A5, SLC22A4, CTSG
3crohn's disease31.1SLC22A4, SLC22A5
4colorectal cancer30.8TCF4, NUDT1, KLRK1
5cystic fibrosis30.8SCT, CTSG, HP
6adenocarcinoma30.5SCT, KLRK1
7celiac disease30.3KLRK1, MICB
8systemic lupus erythematosus30.3KLRK1, IL21, CTSG, ICOS
9adenoma30.3SCT, NUDT1
10primary biliary cirrhosis10.9
11hepatitis c10.9
12hepatitis a10.9
13autoimmune hepatitis10.8
14hepatitis d10.7
15autoimmune pancreatitis10.7
16chronic cholangitis10.7
17ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis10.7
18retroperitoneal fibrosis10.5
19hepatitis b10.5
20cryptosporidiosis10.4
21hepatitis e10.4
22amyloidosis10.4
23bile duct carcinoma10.4
24pouchitis10.4
25autoimmune hemolytic anemia10.3
26alopecia10.3
27bile duct disease10.3
28pancreatitis, chronic10.3
29riedel thyroiditis10.3
30acute leukemia10.3
31suppurative cholangitis10.2
32hypereosinophilic syndrome10.2
33acute myeloid leukemia10.2
34acalculous cholecystitis10.2
35bronchiolitis obliterans organizing pneumonia10.2
36bronchiolitis obliterans10.2
37anuria10.2
38antiphospholipid syndrome10.2
39bronchiolitis10.2
40duodenal ulcer10.2
41bardet-biedl syndrome10.2
42sjogren's syndrome10.2
43wiskott-aldrich syndrome10.2
44alopecia universalis10.2
45fatty liver disease10.2
46lichen planus10.2
47gallbladder lymphoma10.2
48endomyocardial fibrosis10.2
49spindle cell carcinoma10.2
50choledocholithiasis10.2

Graphical network of the top 20 diseases related to Primary Sclerosing Cholangitis:



Diseases related to primary sclerosing cholangitis

Clinical Features for Primary Sclerosing Cholangitis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

602114,613806

Clinical synopsis from OMIM:

602114

Drugs & Therapeutics for Primary Sclerosing Cholangitis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Primary Sclerosing Cholangitis

Drug clinical trials:

Search ClinicalTrials for Primary Sclerosing Cholangitis

Search NIH Clinical Center for Primary Sclerosing Cholangitis

Search CenterWatch for Primary Sclerosing Cholangitis

Genetic Tests for Primary Sclerosing Cholangitis

Anatomical Context for Primary Sclerosing Cholangitis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Primary Sclerosing Cholangitis:

33
Lymph node, Spleen, Small intestine, Colon, Liver, Pancreas, Thyroid, T cells, B cells, Temporal lobe, Pancreatic islet

Animal Models for Primary Sclerosing Cholangitis or affiliated genes

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

MGI Mouse Phenotypes related to Primary Sclerosing Cholangitis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200610.4HP, NUDT1, CTSG, KLRK1
2MP:000538710.4FUT2, KLRK1, CARD9, ICOS, CTSG, NEIL1
3MP:000539710.4TCF4, MST1, HP, NUDT1, CTSG, ICOS
4MP:000537610.2CARD9, ICOS, SCT, NEIL1, NTHL1, NUDT1
5MP:000537010.1NEIL1, HP, GPBAR1, SLC22A5, MST1, CTSG

Publications for Primary Sclerosing Cholangitis

Sources:
51PubMed
See all sources

Articles related to Primary Sclerosing Cholangitis:

(show top 50)    (show all 605)
idTitleAuthorsYear
1
Inflammatory bowel diseases and primary sclerosing cholangitis: hepatic and pancreatic side effects due to azathioprine. (23329527)
2013
2
Mucosal IgG4 cell infiltration in ulcerative colitis is linked to disease activity and primary sclerosing cholangitis. (23619716)
2013
3
Colectomy for patients with ulcerative colitis and primary sclerosing cholangitis - What next? (24239402)
2013
4
Improvement of serum alkaline phosphatase to <1.5 upper limit of normal predicts better outcome and reduced risk of cholangiocarcinoma in primary sclerosing cholangitis. (23085647)
2013
5
Type 2 autoimmune hepatitis overlapping with primary sclerosing cholangitis in a 10-year-old boy. (24182664)
2013
6
Commentary: vancomycin or metronidazole in patients with primary sclerosing cholangitis? (23551156)
2013
7
Pathogenesis of primary sclerosing cholangitis and advances in diagnosis and management. (23827861)
2013
8
Has primary sclerosing cholangitis associated with Crohn's disease a better outcome? (22677115)
2012
9
Primary sclerosing cholangitis: new approaches to diagnosis, surveillance and treatment. (23075867)
2012
10
Overlapping of primary biliary cirrhosis and small duct primary sclerosing cholangitis: first case report. (23226177)
2012
11
A unique clinical phenotype of primary sclerosing cholangitis associated with Crohn's disease. (22325171)
2012
12
Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci. (22521342)
2012
13
Autoimmune hepatitis-primary sclerosing cholangitis overlap syndrome complicated by inflammatory bowel disease. (23247795)
2012
14
Mortality and cancer risk related to primary sclerosing cholangitis in a Swedish population-based cohort. (22098097)
2012
15
Successful treatment of primary sclerosing cholangitis with a steroid and a probiotic. (22679413)
2012
16
Primary sclerosing cholangitis: providing a safe and effective treatment. (22646247)
2012
17
Urosdeoxycholic acid in primary sclerosing cholangitis: a meta-analysis and systematic review. (23122450)
2012
18
The Impact of ulcerative colitis on the long-term outcome of patients with primary sclerosing cholangitis. (22428605)
2012
19
The effects of liver transplantation on the clinical course of colitis in ulcerative colitis patients with primary sclerosing cholangitis. (22428731)
2012
20
Electrostatic modifications of the human leukocyte antigen DR P9 peptide-binding pocket in primary sclerosing cholangitis: back to the future with human leukocyte antigen DRI^. (21538433)
2011
21
Pathogenesis of primary sclerosing cholangitis. (22117638)
2011
22
Cholangiocarcinoma in a 17-year-old boy with primary sclerosing cholangitis and inflammatory bowel disease. (21502832)
2011
23
Meta-analysis: ursodeoxycholic acid for primary sclerosing cholangitis. (21883323)
2011
24
Cholangiocarcinoma complicating recurrent primary sclerosing cholangitis after liver transplantation. (21884553)
2011
25
New treatment strategies for primary sclerosing cholangitis. (21691116)
2011
26
Alkaline phosphatase normalization is associated with better prognosis in primary sclerosing cholangitis. (21251891)
2011
27
Does the severity of primary sclerosing cholangitis influence the clinical course of associated ulcerative colitis? (21402617)
2011
28
Precancerous bile duct pathology in end-stage primary sclerosing cholangitis, with and without cholangiocarcinoma. (19898228)
2010
29
Diagnostic utility of chromosome 17 and p16 abnormalities in fluorescence in situ hybridization tests in primary sclerosing cholangitis. (20583197)
2010
30
Overlap of primary biliary cirrhosis and primary sclerosing cholangitis - a rare coincidence or a new syndrome. (20531971)
2010
31
Immunohistochemical Examination of a Resected Advanced Hilar Cholangiocarcinoma Arising in a 29-Year-Old Male without Primary Sclerosing Cholangitis. (20805936)
2010
32
Gallbladder lymphoma in primary sclerosing cholangitis. (18848908)
2009
33
Influence of dominant bile duct stenoses and biliary infections on outcome in primary sclerosing cholangitis. (19410324)
2009
34
Ileal pouch-anal anastomosis and liver transplantation for ulcerative colitis complicated by primary sclerosing cholangitis. (18496886)
2008
35
The medical management of primary sclerosing cholangitis. (18449341)
2008
36
Disease activity and cancer risk in inflammatory bowel disease associated with primary sclerosing cholangitis. (18567077)
2008
37
Proctocolectomy-ileal pouch-anal anastomosis for ulcerative colitis after liver transplantation for primary sclerosing cholangitis: a multi-institutional analysis. (18449613)
2008
38
Complications after ERCP in patients with primary sclerosing cholangitis: let the art and science of endoscopic medicine continue! (18374025)
2008
39
Primary sclerosing cholangitis: role of extrahepatic biliary resection. (18471705)
2008
40
Primary sclerosing cholangitis. (17440311)
2007
41
Isolated nail lichen planus with primary sclerosing cholangitis in a child. (17768478)
2007
42
Primary sclerosing cholangitis is associated with extended HLA-DR3 and HLA-DR6 haplotypes. (17257319)
2007
43
CC-type chemokine receptor 5-Delta32 mutation protects against primary sclerosing cholangitis. (16633049)
2006
44
The 32-base pair deletion of the chemokine receptor 5 gene (CCR5-Delta32) is not associated with primary sclerosing cholangitis in 363 Scandinavian patients. (16774544)
2006
45
Which patients with primary biliary cirrhosis or primary sclerosing cholangitis should undergo endoscopic screening for oesophageal varices detection? (15710991)
2005
46
Combined adult-to-adult living donor right lobe liver transplantation and pancreatoduodenectomy for distal bile duct adenocarcinoma in a patient with primary sclerosing cholangitis. (14585411)
2003
47
Immunolocalization of putative human liver progenitor cells in livers from patients with end-stage primary biliary cirrhosis and sclerosing cholangitis using the monoclonal antibody OV-6. (9502419)
1998
48
Polymyositis, alopecia universalis, and primary sclerosing cholangitis in a patient with Crohn's disease. (8877639)
1996
49
Ursodeoxycholic acid in the treatment of primary sclerosing cholangitis. (7826595)
1994
50
Dermatitis herpetiformis and primary sclerosing cholangitis. (8403478)
1993

Genetic Variations for Primary Sclerosing Cholangitis

Expression for genes affiliated with Primary Sclerosing Cholangitis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Primary Sclerosing Cholangitis

Search GEO for disease gene expression data for Primary Sclerosing Cholangitis.

Pathways for genes affiliated with Primary Sclerosing Cholangitis

Sources:
54Reactome
See all sources

Pathways related to Primary Sclerosing Cholangitis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4SLC22A5, SLC22A4

Compounds for genes affiliated with Primary Sclerosing Cholangitis

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 2BitterDB
See all sources

Compounds related to Primary Sclerosing Cholangitis according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1moxa4510.8SLC22A5, SLC22A4
2cirazoline4510.8SLC22A5, SLC22A4
3thymine glycol4510.7NEIL1, NTHL1
4tiotropium50 45 29 1113.7SLC22A5, SLC22A4
5cimetidine45 29 1112.7SLC22A5, SLC22A4, SCT
6clonidine45 29 1112.7SCT, SLC22A4, SLC22A5
7ipratropium bromide45 1111.7SLC22A4, SLC22A5
8sodium45 2411.7SCT, CTSG, HP, SLC22A4, SLC22A5
9Penicillin G1110.7SLC22A4, SLC22A5
10epinephrine45 11 2412.7SLC22A5, HP, CTSG, SCT
11moxonidine4510.6SLC22A5, SLC22A4
12phospholipid4510.6GPBAR1, HP, CTSG, SCT
13Aminohippurate1110.6SLC22A4, SLC22A5
14mepyramine45 1111.6SLC22A5, SLC22A4
15procainamide45 1111.5SLC22A5, SLC22A4
16L-Carnitine11 2411.5SLC22A4, SLC22A5
17carbohydrates4510.4FUT2, HP, CTSG
18ofloxacin45 2 1112.4SLC22A5, SLC22A4
198-oxoguanine4510.3NUDT1, NEIL1
20arginine4510.1KLRK1, SCT, CTSG, SLC22A4, SLC22A5

GO Terms for genes affiliated with Primary Sclerosing Cholangitis

Sources:
16Gene Ontology
See all sources

Biological processes related to Primary Sclerosing Cholangitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to oxidative stressGO:00697910.4NUDT1, MICB, NEIL1
2quaternary ammonium group transportGO:01569710.3SLC22A5, SLC22A4
3carnitine transportGO:01587910.1SLC22A5, SLC22A4

Molecular functions related to Primary Sclerosing Cholangitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-(apurinic or apyrimidinic site) lyase activityGO:00390610.4NTHL1, NEIL1
2carnitine transmembrane transporter activityGO:01522610.4SLC22A5, SLC22A4
3DNA N-glycosylase activityGO:01910410.3NTHL1, NEIL1
4quaternary ammonium group transmembrane transporter activityGO:01565110.1SLC22A5, SLC22A4

Products for genes affiliated with Primary Sclerosing Cholangitis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Sclerosing Cholangitis

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