PSC
MCID: PRM054
MIFTS: 48

Primary Sclerosing Cholangitis (PSC) malady

Liver diseases category

Summaries for Primary Sclerosing Cholangitis

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: 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 liver, spleen and thyroid, 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:63 Primary sclerosing cholangitis (PSC) is a disease of the bile ducts that causes inflammation and... more...

Description from OMIM:46 602114,613806

Aliases & Classifications for Primary Sclerosing Cholangitis

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42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

primary sclerosing cholangitis 42 21 48 46 60
cholangitis, primary sclerosing 42 46
sclerosing cholangitis 42 21
psc 21 48
cholangitis primary sclerosing 44
cholangitis, sclerosing 60


External Ids:

MESH via Orphanet35 C536419
ICD10 via Orphanet26 K83.0
SNOMED-CT via Orphanet57 197441003
UMLS via Orphanet61 C0566602

Related Diseases for Primary Sclerosing Cholangitis

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17GeneCards, 18GeneDecks
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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 155)
idRelated DiseaseScoreTop Affiliating Genes
1sclerosing cholangitis32.3GPBAR1
2ulcerative colitis31.6SLC22A5, SLC22A4, CTSG
3inflammatory bowel disease31.4SLC22A4, CTSG, IL21, SLC22A5, MICB, SCT
4pancreatitis31.1SCT
5crohn's disease31.1SLC22A4, SLC22A5
6colorectal cancer30.8TCF4, NUDT1, KLRK1
7cystic fibrosis30.8SCT, CTSG, HP
8leukemia30.5CTSG, KLRK1, HP, TCF4, NUDT1, HTLVR
9adenocarcinoma30.4SCT, KLRK1
10celiac disease30.2KLRK1, MICB
11systemic lupus erythematosus30.2KLRK1, IL21, CTSG, ICOS
12adenoma30.2SCT, NUDT1
13cholangitis11.6
14cholangiocarcinoma11.0
15hepatitis10.9
16primary biliary cirrhosis10.9
17autoimmune hepatitis10.8
18liver disease10.8
19chronic cholangitis10.6
20ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis10.6
21hepatitis a10.6
22colonic disease10.6
23liver cirrhosis10.5
24duodenitis10.5
25cryptosporidiosis10.4
26amyloidosis10.4
27bile duct carcinoma10.4
28dermatitis10.4
29dermatitis herpetiformis10.4
30gallbladder disease10.4
31autoimmune hemolytic anemia10.3
32alopecia10.3
33bile duct disease10.3
34cholecystitis10.3
35cholestasis10.3
36colon cancer10.3
37hemolytic anemia10.3
38hodgkin's lymphoma10.3
39intrahepatic cholangiocarcinoma10.3
40myasthenia gravis10.3
41pneumonia10.3
42sarcoidosis10.3
43thyroiditis10.3
44histiocytosis10.3
45langerhans-cell histiocytosis10.3
46acute leukemia10.3
47burns10.2
48x-linked hyper igm syndrome10.2
49suppurative cholangitis10.2
50orbital disease10.2

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



Diseases related to primary sclerosing cholangitis

Clinical Features for Primary Sclerosing Cholangitis

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46OMIM
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Clinical features from OMIM:

602114,613806

Clinical synopsis from OMIM:

602114

Drugs & Therapeutics for Primary Sclerosing Cholangitis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Primary Sclerosing Cholangitis

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32MalaCards
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MalaCards organs/tissues related to Primary Sclerosing Cholangitis:

32
Liver, Spleen, Thyroid, Small intestine

Animal Models for Primary Sclerosing Cholangitis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Primary Sclerosing Cholangitis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200610.4KLRK1, CTSG, NUDT1, HP
2MP:000538710.4FUT2, KLRK1, CARD9, ICOS, CTSG, NEIL1
3MP:000539710.4ICOS, CTSG, NUDT1, HP, IL21, TCF4
4MP:000537610.2CARD9, ICOS, SCT, NEIL1, NTHL1, NUDT1
5MP:000537010.1CTSG, NEIL1, HP, GPBAR1, SLC22A5, MST1

Publications for Primary Sclerosing Cholangitis

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Genetic Variations for Primary Sclerosing Cholangitis

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Expression for genes affiliated with Primary Sclerosing Cholangitis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome
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Pathways related to Primary Sclerosing Cholangitis according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Primary Sclerosing Cholangitis

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to Primary Sclerosing Cholangitis according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1moxa4410.8SLC22A5, SLC22A4
2cirazoline4410.8SLC22A5, SLC22A4
3thymine glycol4410.7NEIL1, NTHL1
4tiotropium49 44 28 1113.7SLC22A5, SLC22A4
5cimetidine44 28 1112.7SLC22A5, SLC22A4, SCT
6clonidine44 28 1112.7SCT, SLC22A4, SLC22A5
7ipratropium bromide44 1111.7SLC22A4, SLC22A5
8sodium44 2411.7SCT, CTSG, HP, SLC22A4, SLC22A5
9Penicillin G1110.7SLC22A4, SLC22A5
10epinephrine44 11 2412.7SLC22A5, HP, CTSG, SCT
11moxonidine4410.6SLC22A5, SLC22A4
12phospholipid4410.6GPBAR1, HP, CTSG, SCT
13Aminohippurate1110.6SLC22A4, SLC22A5
14mepyramine44 1111.6SLC22A5, SLC22A4
15procainamide44 1111.5SLC22A5, SLC22A4
16L-Carnitine11 2411.5SLC22A4, SLC22A5
17carbohydrates4410.4FUT2, HP, CTSG
18ofloxacin44 2 1112.4SLC22A5, SLC22A4
198-oxoguanine4410.3NUDT1, NEIL1
20arginine4410.1KLRK1, SCT, CTSG, SLC22A4, SLC22A5

GO Terms for genes affiliated with Primary Sclerosing Cholangitis

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Sclerosing Cholangitis

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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