MCID: CHL119
MIFTS: 35

Cholangitis, Primary Sclerosing malady

Rare diseases, Liver diseases categories

Summaries for Cholangitis, Primary Sclerosing

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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 based summary: Cholangitis, Primary Sclerosing, also known as primary sclerosing cholangitis, is related to ulcerative colitis and cholangitis. 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:23 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:47 Primary sclerosing cholangitis (PSC) is a slowly progressive cholestatic liver disease characterized by... (613806) more...

Wikipedia:65 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:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 23Genetics Home Reference, 49Orphanet, 45Novoseek, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Cholangitis, Primary Sclerosing, Aliases & Descriptions:

Name: Cholangitis, Primary Sclerosing 47 11 43
Primary Sclerosing Cholangitis 43 23 49
Psc 43 23 49
 
Sclerosing Cholangitis 43 23
Cholangitis Primary Sclerosing 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Liver diseases
Orphanet: 49 
Rare hepatic diseases


Characteristics (Orphanet epidemiological data):

49
primary sclerosing cholangitis:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/1000000 (Europe),1-5/10000 (Europe); Age of onset: Adult


External Ids:

OMIM47 613806
Orphanet49 171
MESH via Orphanet36 C536419
ICD10 via Orphanet28 K83.0
UMLS via Orphanet63 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/GeneDecks gene sharing:

(show top 50)    (show all 150)
idRelated DiseaseScoreTop Affiliating Genes
1ulcerative colitis31.6BPI, CTSG
2cholangitis31.5DLAT
3autoimmune hepatitis31.2DLAT, AIRE
4primary biliary cirrhosis31.2AIRE, EPCAM, DMBT1, DLAT
5cystic fibrosis30.8CTSG, BPI, DMBT1
6bronchiectasis30.2CTSG, BPI
7hepatocellular carcinoma30.1SULT2A1, TCF4, EPCAM, DLAT
8colitis11.1
9cholangiocarcinoma11.0
10sclerosing cholangitis11.0
11pancreatitis11.0
12inflammatory bowel disease10.9
13autoimmune pancreatitis10.9
14hepatitis10.9
15ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis10.7
16crohn's disease10.7
17liver disease10.6
18colorectal cancer10.5
19retroperitoneal fibrosis10.5
20cryptosporidiosis10.5
21duodenitis10.5
22thyroiditis10.5
23leukemia10.4
24pericholangitis10.4
25bile duct carcinoma10.4
26cholecystitis10.4
27dermatitis10.4
28hemolytic anemia10.4
29langerhans-cell histiocytosis10.4
30acalculous cholecystitis10.4
31autoimmune hemolytic anemia10.4
32adenocarcinoma10.4
33amyloidosis10.4
34bile duct disease10.4
35cholestasis10.4
36dermatitis herpetiformis10.4
37histiocytosis10.4
38blindness10.4
39pouchitis10.4
40alopecia10.3
41burns10.3
42myasthenia gravis10.3
43x-linked hyper igm syndrome10.3
44chronic cholangitis10.3
45crohn's colitis10.3
46colonic disease10.3
47eosinophilia10.3
48gallbladder disease10.3
49intrahepatic cholangiocarcinoma10.3
50pneumonia10.3

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:

33
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:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.4CTSG, MST1, TCF4, EPCAM, AIRE
2MP:00053818.1MST1, AIRE, DMBT1, EPCAM
3MP:00053877.5EPCAM, AIRE, DMBT1, CTSG, MST1, TCF4

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/GeneDecks:

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

Compounds for genes affiliated with Cholangitis, Primary Sclerosing

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Sources:
45Novoseek
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Compounds related to Cholangitis, Primary Sclerosing according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1n-formylmethionyl-leucylphenylalanine459.7CTSG, MST1
2serine457.7CTSG, 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/GeneDecks:

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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet