MCID: CHL119
MIFTS: 31

Cholangitis, Primary Sclerosing malady

Rare diseases, Liver diseases categories

Summaries for Cholangitis, Primary Sclerosing

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NIH Rare Diseases:41 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: Cholangitis, Primary Sclerosing, also known as primary sclerosing cholangitis, is related to cholangitis and ulcerative colitis. An important gene associated with Cholangitis, Primary Sclerosing is PSC (Cholangitis, primary sclerosing), and among its related pathways is Corticotropin-releasing hormone. The compounds n-formylmethionyl-leucylphenylalanine and serine have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and small intestine, and related mouse phenotypes are hematopoietic system and digestive/alimentary.

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.

OMIM:45 Primary sclerosing cholangitis (PSC) is a slowly progressive cholestatic liver disease characterized by... (613806) more...

Wikipedia:63 Primary sclerosing cholangitis (PSC) is a disease of the bile ducts that causes inflammation and... more...

Aliases & Classifications for Cholangitis, Primary Sclerosing

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Cholangitis, Primary Sclerosing, Aliases & Descriptions:

Name: Cholangitis, Primary Sclerosing 45 10 41
Primary Sclerosing Cholangitis 41 21 47 60
Psc 41 21 47
 
Sclerosing Cholangitis 41 21
Cholangitis Primary Sclerosing 43
Cholangitis, Sclerosing 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Liver diseases
Orphanet: 47 
Rare hepatic diseases


Characteristics (Orphanet epidemiological data):

47
primary sclerosing cholangitis:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/1000000 (Europe),1-5/10000 (Europe); Age of onset: Adult


External Ids:

OMIM45 613806
Orphanet47 171
MESH via Orphanet34 C536419
ICD10 via Orphanet26 K83.0
UMLS via Orphanet61 C0566602

Related Diseases for Cholangitis, Primary Sclerosing

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Diseases in the Sclerosing Cholangitis family:

cholangitis, primary sclerosing

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

(show top 50)    (show all 150)
idRelated DiseaseScoreTop Affiliating Genes
1cholangitis32.0DLAT
2ulcerative colitis31.9CTSG, BPI
3autoimmune hepatitis31.6DLAT, AIRE
4primary biliary cirrhosis31.1DLAT, EPCAM, DMBT1, AIRE
5cystic fibrosis30.9DMBT1, BPI, CTSG
6bronchiectasis30.5CTSG, BPI
7hepatocellular carcinoma29.8SULT2A1, EPCAM, TCF4, DLAT
8colitis11.2
9cholangiocarcinoma11.1
10inflammatory bowel disease11.0
11sclerosing cholangitis11.0
12hepatitis10.9
13pancreatitis10.8
14crohn's disease10.8
15ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis10.8
16autoimmune pancreatitis10.7
17colorectal cancer10.6
18retroperitoneal fibrosis10.5
19liver disease10.5
20duodenitis10.5
21cryptosporidiosis10.5
22hemolytic anemia10.5
23autoimmune hemolytic anemia10.5
24amyloidosis10.5
25bile duct disease10.5
26dermatitis10.5
27dermatitis herpetiformis10.5
28pouchitis10.5
29leukemia10.4
30alopecia10.4
31myasthenia gravis10.4
32chronic cholangitis10.4
33crohn's colitis10.4
34adenocarcinoma10.4
35bile duct carcinoma10.4
36cholecystitis10.4
37cholestasis10.4
38colonic disease10.4
39gallbladder disease10.4
40intrahepatic cholangiocarcinoma10.4
41pneumonia10.4
42thyroiditis10.4
43blindness10.4
44langerhans-cell histiocytosis10.4
45histiocytosis10.4
46burns10.3
47x-linked hyper igm syndrome10.3
48hypereosinophilic syndrome10.3
49systemic lupus erythematosus10.2
50wiskott-aldrich syndrome10.2

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



Diseases related to cholangitis, primary sclerosing

Symptoms for Cholangitis, Primary Sclerosing

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Clinical features from OMIM:

613806

Drugs & Therapeutics for Cholangitis, Primary Sclerosing

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Drug clinical trials:

Search ClinicalTrials for Cholangitis, Primary Sclerosing

Search NIH Clinical Center for Cholangitis, Primary Sclerosing

Genetic Tests for Cholangitis, Primary Sclerosing

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Anatomical Context for Cholangitis, Primary Sclerosing

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MalaCards organs/tissues related to Cholangitis, Primary Sclerosing:

31
Liver, Spleen, Small intestine, Thyroid

Animal Models for Cholangitis, Primary Sclerosing or affiliated genes

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MGI Mouse Phenotypes related to Cholangitis, Primary Sclerosing:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.4CTSG, MST1, TCF4, EPCAM, AIRE
2MP:00053818.1AIRE, DMBT1, EPCAM, MST1
3MP:00053877.5CTSG, MST1, TCF4, EPCAM, DMBT1, AIRE

Publications for Cholangitis, Primary Sclerosing

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Variations for Cholangitis, Primary Sclerosing

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Expression for genes affiliated with Cholangitis, Primary Sclerosing

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

Pathways for genes affiliated with Cholangitis, Primary Sclerosing

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Pathways related to Cholangitis, Primary Sclerosing according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8TCF4, SULT2A1

Compounds for genes affiliated with Cholangitis, Primary Sclerosing

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Sources:
43Novoseek
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Compounds related to Cholangitis, Primary Sclerosing according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1n-formylmethionyl-leucylphenylalanine439.7CTSG, MST1
2serine437.7CTSG, BPI, MST1, DMBT1, AIRE

GO Terms for genes affiliated with Cholangitis, Primary Sclerosing

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Biological processes related to Cholangitis, Primary Sclerosing according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1immune responseGO:00069559.1CTSG, BPI, AIRE

Products for genes affiliated with Cholangitis, Primary Sclerosing

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Sources for Cholangitis, Primary Sclerosing

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet