PSC
MCID: PRM054
MIFTS: 60

Primary Sclerosing Cholangitis (PSC) malady

Rare diseases, Liver diseases, Gastrointestinal diseases categories
Download this MalaCard

Summaries for Primary Sclerosing Cholangitis

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 based summary: Primary Sclerosing Cholangitis, also known as cholangitis, primary sclerosing, is related to sclerosing cholangitis and ulcerative colitis, and has symptoms including An important gene associated with Primary Sclerosing Cholangitis is PSC (Cholangitis, primary sclerosing), and among its related pathways is Resolution of Abasic Sites (AP sites). The compounds thymine glycol and 8-oxoguanine have been mentioned in the context of this disorder. Affiliated tissues include liver, thyroid and spleen, and related mouse phenotypes are liver/biliary system and tumorigenesis.

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

Descriptions from OMIM:46 602114,613806

Aliases & Classifications for Primary Sclerosing Cholangitis

About this section
Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Primary Sclerosing Cholangitis, Aliases & Descriptions:

Name: Primary Sclerosing Cholangitis 42 21 48 46 62
Cholangitis, Primary Sclerosing 42 46
Sclerosing Cholangitis 42 21
 
Psc 21 48
Cholangitis Primary Sclerosing 44
Cholangitis, Sclerosing 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Liver diseases, Gastrointestinal diseases
Orphanet: 48 
Rare hepatic diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

MESH via Orphanet35 C536419
ICD10 via Orphanet26 K83.0
UMLS via Orphanet63 C0566602

Related Diseases for Primary Sclerosing Cholangitis

About this section

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 166)
idRelated DiseaseScoreTop Affiliating Genes
1sclerosing cholangitis33.2GPBAR1
2ulcerative colitis31.4PRTN3, BPI, IL21, MADCAM1, CTSG
3inflammatory bowel disease31.0PRTN3, BPI, IL21, MADCAM1, CTSG, SLC22A5
4cystic fibrosis30.8PRTN3, BPI, HP, CTSG
5bronchiectasis30.4CTSG, BPI
6systemic lupus erythematosus29.9PRTN3, ICOS, IL21, KLRK1, CTSG
7sepsis29.8PRTN3, BPI, CTSG
8leukemia29.7NUDT1, TCF4, PRTN3, HTLVR, HP, KLRK1
9cholangitis11.6
10colitis11.2
11cholangiocarcinoma11.1
12hepatitis10.9
13primary biliary cirrhosis10.9
14autoimmune hepatitis10.9
15pancreatitis10.8
16crohn's disease10.8
17autoimmune pancreatitis10.7
18ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis10.7
19colorectal cancer10.6
20retroperitoneal fibrosis10.6
21liver disease10.5
22duodenitis10.5
23cryptosporidiosis10.5
24hemolytic anemia10.5
25autoimmune hemolytic anemia10.5
26amyloidosis10.5
27bile duct disease10.5
28dermatitis10.5
29dermatitis herpetiformis10.5
30gallbladder disease10.5
31pouchitis10.5
32alopecia10.4
33hodgkin's lymphoma10.4
34myasthenia gravis10.4
35chronic cholangitis10.4
36adenocarcinoma10.4
37bile duct carcinoma10.4
38cholecystitis10.4
39cholestasis10.4
40colon cancer10.4
41colonic disease10.4
42intrahepatic cholangiocarcinoma10.4
43pneumonia10.4
44sarcoidosis10.4
45thyroiditis10.4
46blindness10.4
47mastitis10.4HP, FUT2
48langerhans-cell histiocytosis10.4
49histiocytosis10.4
50emphysema due to aat deficiency10.3PRTN3

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



Diseases related to primary sclerosing cholangitis

Symptoms for Primary Sclerosing Cholangitis

About this section

Symptoms by clinical synopsis from OMIM:

602114

Clinical features from OMIM:

602114,613806

HPO human phenotypes related to Primary Sclerosing Cholangitis:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 tubulointerstitial abnormality HP:0001969
3 cholestatic liver disease HP:0002611
4 elevated hepatic transaminases HP:0002910
5 chronic kidney disease HP:0012622

Drugs & Therapeutics for Primary Sclerosing Cholangitis

About this section

Drug clinical trials:

Search ClinicalTrials for Primary Sclerosing Cholangitis

Search NIH Clinical Center for Primary Sclerosing Cholangitis

Genetic Tests for Primary Sclerosing Cholangitis

About this section

Anatomical Context for Primary Sclerosing Cholangitis

About this section

MalaCards organs/tissues related to Primary Sclerosing Cholangitis:

32
Liver, Thyroid, Spleen, Small intestine, Colon, Testes, T cells, Pancreas, Neutrophil, Bone, Lymph node

Animal Models for Primary Sclerosing Cholangitis or affiliated genes

About this section

MGI Mouse Phenotypes related to Primary Sclerosing Cholangitis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6GPBAR1, NEIL1, MST1, HP, CTSG, SLC22A5
2MP:00020068.1NUDT1, NEIL1, ICOS, NTHL1, HP, KLRK1
3MP:00053767.9NUDT1, NEIL1, ICOS, NTHL1, IL21, HP
4MP:00053976.4NUDT1, TCF4, PRTN3, MST1, ICOS, IL21
5MP:00053875.9CTSG, FUT2, NUDT1, NEIL1, TCF4, PRTN3

Publications for Primary Sclerosing Cholangitis

About this section

Articles related to Primary Sclerosing Cholangitis:

(show top 50)    (show all 616)
idTitleAuthorsYear
1
Serum metabolic signatures of primary biliary cirrhosis and primary sclerosing cholangitis. (25181933)
2014
2
Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4. (22821403)
2013
3
Primary Sclerosing Cholangitis: Current and Future Management Strategies. (23682242)
2013
4
Effects of immunosuppression and liver transplantation on inflammatory bowel disease in patients with primary sclerosing cholangitis. (23376317)
2013
5
Incidence of colorectal cancer after liver transplantation for primary sclerosing cholangitis: a systematic review and meta-analysis. (24019127)
2013
6
Antineutrophil cytoplasmic auto-antibodies (ANCA) in autoimmune hepatitis and primary sclerosing cholangitis. (22998811)
2013
7
Diagnosis, prognosis, and management of primary sclerosing cholangitis. (23935556)
2013
8
Crohn's disease and primary sclerosing cholangitis: a case report and review of the literature. (22892482)
2012
9
Case of telangiectatic/inflammatory hepatocellular adenoma arising in a patient with primary sclerosing cholangitis. (22568458)
2012
10
Has primary sclerosing cholangitis associated with Crohn's disease a better outcome? (22677115)
2012
11
Primary sclerosing cholangitis and distribution of inflammatory bowel disease. (22835578)
2012
12
Temporal trends in colon neoplasms in patients with primary sclerosing cholangitis and ulcerative colitis. (22398080)
2012
13
Sclerosing cholangitis in baboons (Papio spp) resembling primary sclerosing cholangitis of humans. (21934101)
2012
14
Biliary dysplasia in patients with primary sclerosing cholangitis: additional value of DNA ploidity. (22098817)
2012
15
Factors that reduce health-related quality of life in patients with primary sclerosing cholangitis. (22343690)
2012
16
Primary sclerosing cholangitis: new approaches to diagnosis, surveillance and treatment. (23075867)
2012
17
Primary sclerosing cholangitis is associated with a distinct phenotype of inflammatory bowel disease. (22407885)
2012
18
Epidemiology of primary sclerosing cholangitis and primary biliary cirrhosis: a systematic review. (22245904)
2012
19
Overlapping of primary biliary cirrhosis and small duct primary sclerosing cholangitis: first case report. (23226177)
2012
20
Recent insights in primary sclerosing cholangitis. (22713082)
2012
21
Duration and severity of primary sclerosing cholangitis is not associated with risk of neoplastic changes in the colon in patients with ulcerative colitis. (22405258)
2012
22
Genetic polymorphisms of matrix metalloproteinase 3 in primary sclerosing cholangitis. (21134112)
2011
23
The value of F-18 FDG PET in patients with primary sclerosing cholangitis and cholangiocarcinoma using visual and semiquantitative analysis. (21892037)
2011
24
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
25
High-dose ursodeoxycholic acid is associated with the development of colorectal neoplasia in patients with ulcerative colitis and primary sclerosing cholangitis. (21556038)
2011
26
Inflammatory bowel disease is associated with poor outcomes of patients with primary sclerosing cholangitis. (21893134)
2011
27
Primary sclerosing cholangitis associated with elevated immunoglobulin G4: clinical characteristics and response to therapy. (20228674)
2011
28
Coexistence of primary sclerosing cholangitis in a patient with myasthenia gravis. (22346028)
2011
29
Risk factors for recurrence of primary sclerosing cholangitis after living donor liver transplantation in Japanese registry. (21219581)
2011
30
Genetic associations in Italian primary sclerosing cholangitis: heterogeneity across Europe defines a critical role for HLA-C. (20347497)
2010
31
Recurrence of autoimmune disease, primary sclerosing cholangitis, primary biliary cirrhosis, and autoimmune hepatitis after liver transplantation. (19876939)
2009
32
Cholangioscopy for special applications: primary sclerosing cholangitis, liver transplant, and selective duct access. (19917463)
2009
33
Long-term treatment of primary sclerosing cholangitis in children with oral vancomycin: an immunomodulating antibiotic. (18607270)
2008
34
Risk factors for recurrence of primary sclerosing cholangitis after liver transplantation. (18236405)
2008
35
Primary sclerosing cholangitis, autoimmune hepatitis and overlap syndromes in inflammatory bowel disease. (18200656)
2008
36
High-dose ursodeoxycholic acid for the treatment of primary sclerosing cholangitis. (17335678)
2007
37
Primary sclerosing cholangitis. (17440311)
2007
38
Primary sclerosing cholangitis--the arteriosclerosis of the bile duct? (17254334)
2007
39
Recurrence of primary biliary cirrhosis and primary sclerosing cholangitis after liver transplantation in Japan. (17931201)
2007
40
An assessment of chromosomal alterations detected by fluorescence in situ hybridization and p16 expression in sporadic and primary sclerosing cholangitis-associated cholangiocarcinomas. (17239935)
2007
41
No major effect of the CD28/CTLA4/ICOS gene region on susceptibility to primary sclerosing cholangitis. (16638702)
2006
42
CC-type chemokine receptor 5-Delta32 mutation protects against primary sclerosing cholangitis. (16633049)
2006
43
Prevalence and predictors of esophageal varices in patients with primary sclerosing cholangitis. (14752839)
2004
44
CCR5-Delta32 mutation is strongly associated with primary sclerosing cholangitis. (15215889)
2004
45
BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis. (14999697)
2004
46
Bile acids for primary sclerosing cholangitis. (12804480)
2003
47
The course of colonic disease in ulcerative colitis patients with primary sclerosing cholangitis. (16378294)
2002
48
The HLA-DR3,DQ2 heterozygous genotype is associated with an accelerated progression of primary sclerosing cholangitis. (11495087)
2001
49
Primary sclerosing cholangitis in a child. (10365542)
1999
50
Anti-lactoferrin antibodies and other types of ANCA in ulcerative colitis, primary sclerosing cholangitis, and Crohn's disease. (8432453)
1993

Variations for Primary Sclerosing Cholangitis

About this section

Expression for genes affiliated with Primary Sclerosing Cholangitis

About this section
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

About this section

Compounds for genes affiliated with Primary Sclerosing Cholangitis

About this section
Sources:
44Novoseek, 2BitterDB, 24HMDB, 11DrugBank, 50PharmGKB
See all sources

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

(show all 19)
idCompoundScoreTop Affiliating Genes
1thymine glycol4410.2NTHL1, NEIL1
28-oxoguanine4410.1NEIL1, NUDT1
3con a4410.0HP, IL21
4phthalimide4410.0CTSG, PRTN3
5saccharin44 210.9CTSG, PRTN3
6phosphonate449.9CTSG, NEIL1
7pmsf449.9CTSG, PRTN3
8n-formylmethionyl-leucylphenylalanine449.8PRTN3, MST1, CTSG
9urea44 24 1111.7BPI, HP, CTSG
10endotoxin449.6BPI, HP, CTSG
11phospholipid449.5GPBAR1, BPI, HP, CTSG
12diisopropylfluorophosphate449.3CTSG, PRTN3
13fmlp449.3CTSG, BPI, PRTN3
14imatinib44 50 1111.3PRTN3, KLRK1, SLC22A5
15carbohydrates449.1CTSG, MADCAM1, HP, FUT2
16oxygen44 249.8KLRK1, NTHL1, PRTN3, NEIL1, NUDT1
17nitric oxide44 24 1110.7CTSG, MADCAM1, HP, BPI, MST1
18serine448.6GPBAR1, PRTN3, MST1, BPI, HP, CTSG
19tyrosine448.6GPBAR1, PRTN3, MST1, IL21, HP, SLC22A5

GO Terms for genes affiliated with Primary Sclerosing Cholangitis

About this section

Cellular components related to Primary Sclerosing Cholangitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700628.2SLC22A5, CTSG, HP, BPI, PRTN3, FUT2

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

idNameGO IDScoreTop Affiliating Genes
1base-excision repairGO:00628410.0NTHL1, NEIL1
2immune responseGO:0069557.9CTSG, MADCAM1, IL21, BPI, ICOS

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

idNameGO IDScoreTop Affiliating Genes
1DNA N-glycosylase activityGO:0191049.9NTHL1, NEIL1
2DNA-(apurinic or apyrimidinic site) lyase activityGO:0039069.7NTHL1, NEIL1
3serine-type endopeptidase activityGO:0042529.4CTSG, MST1, PRTN3

Products for genes affiliated with Primary Sclerosing Cholangitis

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Primary Sclerosing Cholangitis

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet