PSC
MCID: CHL119
MIFTS: 59

Cholangitis, Primary Sclerosing (PSC)

Categories: Gastrointestinal diseases, Liver diseases, Rare diseases

Aliases & Classifications for Cholangitis, Primary Sclerosing

MalaCards integrated aliases for Cholangitis, Primary Sclerosing:

Name: Cholangitis, Primary Sclerosing 57 75 53 13
Primary Sclerosing Cholangitis 12 75 53 25 59 37 29 15 72
Psc 57 25 59
Cholangitis, Sclerosing 44 72
Sclerosing Cholangitis 53 25
Cholangitis Primary Sclerosing 55

Characteristics:

Orphanet epidemiological data:

59
primary sclerosing cholangitis
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/1000000 (Europe),1-5/10000 (Europe),1-9/100000 (Worldwide),1-9/1000000 (Worldwide),1-9/100000 (Norway),1-9/100000 (Sweden),1-5/10000 (Sweden),1-9/1000000 (Netherlands),1-9/100000 (Netherlands),1-9/1000000 (Canada),<1/1000000 (Spain),1-9/1000000 (Spain); Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:0060643
OMIM 57 613806
KEGG 37 H01684
MeSH 44 D015209
NCIt 50 C4828
SNOMED-CT 68 4032000
MESH via Orphanet 45 C536419
ICD10 via Orphanet 34 K83.0
UMLS via Orphanet 73 C0566602
Orphanet 59 ORPHA171
MedGen 42 C0566602
UMLS 72 C0008313 C0566602

Summaries for Cholangitis, Primary Sclerosing

Genetics Home Reference : 25 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. Primary sclerosing cholangitis is usually diagnosed around age 40, and for unknown reasons, it affects men twice as often as women. Many people have no signs or symptoms of the condition when they are diagnosed, but routine blood tests reveal liver problems. When apparent, the earliest signs and symptoms of primary sclerosing cholangitis include extreme tiredness (fatigue), discomfort in the abdomen, and severe itchiness (pruritus). As the condition worsens, affected individuals may develop yellowing of the skin and whites of the eyes (jaundice) and an enlarged spleen (splenomegaly). Eventually, the buildup of bile damages the liver cells, causing chronic liver disease (cirrhosis) and liver failure. Without bile available to digest them, fats pass through the body. As a result, weight loss and shortages of vitamins that are absorbed with and stored in fats (fat-soluble vitamins) can occur. A fat-soluble vitamin called vitamin D helps absorb calcium and helps bones harden, and lack of this vitamin can cause thinning of the bones (osteoporosis) in people with primary sclerosing cholangitis. Primary sclerosing cholangitis is often associated with another condition called inflammatory bowel disease, which is characterized by inflammation of the intestines that causes open sores (ulcers) in the intestines and abdominal pain. However, the reason for this link is unclear. Approximately 70 percent of people with primary sclerosing cholangitis have inflammatory bowel disease, most commonly a form of the condition known as ulcerative colitis. In addition, people with primary sclerosing cholangitis are more likely to have an autoimmune disorder, such as type 1 diabetes, celiac disease, or thyroid disease, than people without the condition. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. People with primary sclerosing cholangitis also have an increased risk of developing cancer, particularly cancer of the bile ducts (cholangiocarcinoma).

MalaCards based summary : Cholangitis, Primary Sclerosing, also known as primary sclerosing cholangitis, is related to cholangitis and cholestasis, and has symptoms including icterus An important gene associated with Cholangitis, Primary Sclerosing is PSC (Cholangitis, Primary Sclerosing), and among its related pathways/superpathways are Bile secretion and Farnesoid X Receptor Pathway. The drugs Prednisone and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and thyroid, and related phenotypes are autoimmunity and splenomegaly

Disease Ontology : 12 A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.

NIH Rare Diseases : 53 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).

OMIM : 57 Primary sclerosing cholangitis (PSC) is a slowly progressive cholestatic liver disease characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. It is a major indication for liver transplantation (Sheth et al., 2003). Approximately 75 to 80% of PSC cases are associated with inflammatory bowel disease (IBD; see 266600), and 2.5 to 7.5% of patients with IBD develop PSC (Lee and Kaplan, 1995). (613806)

KEGG : 37
Primary sclerosing cholangitis (PSC) is a rare progressive disease of the liver characterized by cholestasis and bile duct fibrosis, leading to decreased quality of life, cirrhosis, and the need for liver transplantation within an average of 12 years. The disease occurs in children and adults, and is closely linked with inflammatory bowel disease (IBD), most often ulcerative colitis (UC). The clinical presentation is variable. Typical symptoms include right upper quadrant abdominal discomfort, fatigue, pruritus, and weight loss. The most frequent abnormal physical exam findings are jaundice, hepatomegaly, and splenomegaly. The pathogenesis of PSC remains unclear but hypotheses include genetic factors lymphocyte recruitment and activation, portal bacteraemia, and bile salt toxicity. Ursodeoxycholic acid (UDCA) is widely used for PSC patients and UDCA can lead to improvements in serum hepatobiliary enzymes. UDCA has been tested alone and in combination with corticosteroids or other immunosuppressant agents. However, there is no medical treatment for PSC with enough evidence to show a delay in disease progression, and new therapy is needed.

Wikipedia : 75 Primary sclerosing cholangitis (PSC) is a long-term progressive disease of the liver and gallbladder... more...

Related Diseases for Cholangitis, Primary Sclerosing

Diseases in the Sclerosing Cholangitis family:

Cholangitis, Primary Sclerosing Secondary Sclerosing Cholangitis

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

(show top 50) (show all 542)
# Related Disease Score Top Affiliating Genes
1 cholangitis 32.2 GPT GGT1 DLAT CFTR ABCB4
2 cholestasis 31.6 NR1I2 GPT GGT1 ABCB4
3 sclerosing cholangitis 31.4 NR1I2 MPO HLA-C GGT1 CTSG CFTR
4 liver disease 31.4 GPT GGT1 DLAT ABCB4
5 biliary tract disease 31.2 NR1I2 GGT1 ABCB4
6 suppurative cholangitis 31.1 MPO DLAT ABCB4
7 vasculitis 31.1 MPO ELANE CTSG BPI
8 cystic fibrosis 31.0 MPO ELANE CTSG CFTR BPI
9 autoimmune hepatitis 30.8 HLA-A GPT GGT1 DLAT AIRE
10 cholecystolithiasis 30.8 GPR35 ABCB4
11 bacterial infectious disease 30.8 ELANE CFTR BPI
12 acute pancreatitis 30.7 MPO ELANE CFTR
13 extrahepatic cholestasis 30.6 MPO GPT GGT1 ABCB4
14 bile duct disease 30.4 NR1I2 GPT GGT1 ABCB4
15 bronchiectasis 30.4 MPO ELANE CTSG CFTR BPI
16 intrahepatic cholestasis of pregnancy 29.9 NR1I2 GGT1 ABCB4
17 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 13.1
18 sclerosing cholangitis, neonatal 12.9
19 isolated neonatal sclerosing cholangitis 12.4
20 immunodeficiency 14 11.4
21 cholangiocarcinoma 10.7
22 intrahepatic cholangiocarcinoma 10.7
23 inflammatory bowel disease 10.7
24 varicose veins 10.7
25 autoimmune pancreatitis 10.7
26 autoimmune retinopathy 10.6 ENO1 AIRE
27 ulcerative colitis 10.6
28 colorectal cancer 10.6
29 crescentic glomerulonephritis 10.6 MPO CTSG BPI
30 cerebral aneurysms 10.6 MPO ELANE
31 autoimmune disease of urogenital tract 10.6 GGT1 DLAT ABCB4
32 autoimmune vasculitis 10.6 ELANE CTSG
33 idiopathic bronchiectasis 10.6 HLA-C HLA-A CFTR
34 periodontosis 10.6 MPO HLA-A ELANE
35 autoimmune disease of cardiovascular system 10.5 ELANE CTSG
36 hepatic tuberculosis 10.5 GPT GGT1
37 bronchitis 10.5 MPO ELANE CFTR
38 portal hypertension 10.5
39 undetermined colitis 10.5
40 esophageal varix 10.4
41 respiratory system disease 10.4 MPO ELANE CFTR
42 granulomatosis with polyangiitis 10.4 MPO ELANE CTSG BPI
43 pasteurellosis 10.4 MPO ELANE
44 igg4-related sclerosing cholangitis 10.4
45 pityriasis rosea 10.4 HLA-C HLA-A
46 gallbladder disease 1 10.4
47 hemolytic anemia 10.4
48 primary biliary cholangitis 10.4
49 anemia, autoimmune hemolytic 10.4
50 acute cholangitis 10.4

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



Diseases related to Cholangitis, Primary Sclerosing

Symptoms & Phenotypes for Cholangitis, Primary Sclerosing

Human phenotypes related to Cholangitis, Primary Sclerosing:

59 32 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
2 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
3 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
4 portal hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0001409
5 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
6 ascites 59 32 frequent (33%) Frequent (79-30%) HP:0001541
7 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
8 cirrhosis 59 32 frequent (33%) Frequent (79-30%) HP:0001394
9 elevated hepatic transaminase 59 32 frequent (33%) Frequent (79-30%) HP:0002910
10 hepatic fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001395
11 hepatosplenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001433
12 elevated alkaline phosphatase of hepatic origin 59 32 frequent (33%) Frequent (79-30%) HP:0010638
13 spider hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0012522
14 abnormal large intestine physiology 59 32 frequent (33%) Frequent (79-30%) HP:0012700
15 dilated superficial abdominal veins 59 32 frequent (33%) Frequent (79-30%) HP:0030168
16 ulcerative colitis 59 32 frequent (33%) Frequent (79-30%) HP:0100279
17 palmar telangiectasia 59 32 frequent (33%) Frequent (79-30%) HP:0100869
18 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
19 osteopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000938
20 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
21 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
22 type i diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100651
23 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
24 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
25 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
26 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
27 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
28 celiac disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0002608
29 thyroiditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100646
30 cholelithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001081
31 jaundice 59 32 occasional (7.5%) Occasional (29-5%) HP:0000952
32 pancreatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001733
33 generalized amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003700
34 chronic hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0100626
35 pleural effusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0002202
36 prolonged prothrombin time 59 32 occasional (7.5%) Occasional (29-5%) HP:0008151
37 hypoalbuminemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003073
38 hepatocellular carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001402
39 polyclonal elevation of igm 59 32 occasional (7.5%) Occasional (29-5%) HP:0003459
40 cholangiocarcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0030153
41 adenocarcinoma of the large intestine 59 32 occasional (7.5%) Occasional (29-5%) HP:0040275
42 low levels of vitamin a 32 occasional (7.5%) HP:0004905
43 low levels of vitamin k 32 occasional (7.5%) HP:0011892
44 low levels of vitamin d 32 occasional (7.5%) HP:0100512
45 low levels of vitamin e 32 occasional (7.5%) HP:0100513
46 uveitis 59 32 very rare (1%) Very rare (<4-1%) HP:0000554
47 acute hepatic failure 59 32 very rare (1%) Very rare (<4-1%) HP:0006554
48 encephalopathy 59 32 very rare (1%) Very rare (<4-1%) HP:0001298
49 neoplasm of the gallbladder 59 32 very rare (1%) Very rare (<4-1%) HP:0100575
50 cholestasis 59 Very frequent (99-80%)

Clinical features from OMIM:

613806

UMLS symptoms related to Cholangitis, Primary Sclerosing:


icterus

MGI Mouse Phenotypes related to Cholangitis, Primary Sclerosing:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.32 ABCB4 AIRE CFTR CTSG DMBT1 ELANE

Drugs & Therapeutics for Cholangitis, Primary Sclerosing

Drugs for Cholangitis, Primary Sclerosing (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 111)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Leflunomide Approved, Investigational Phase 4 75706-12-6 3899
7
Ofloxacin Approved Phase 4 82419-36-1 4583
8
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
9
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
10
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
11 Immunologic Factors Phase 4
12 Immunosuppressive Agents Phase 4
13 Anti-Inflammatory Agents Phase 4
14 Hormone Antagonists Phase 4
15 Hormones Phase 4
16 glucocorticoids Phase 4
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
18 Immunoglobulin G Phase 4
19 Prednisolone acetate Phase 4
20 Methylprednisolone Acetate Phase 4
21 Antineoplastic Agents, Hormonal Phase 4
22 Anti-Bacterial Agents Phase 4
23 Antibiotics, Antitubercular Phase 4
24 Cytochrome P-450 Enzyme Inhibitors Phase 4
25 Renal Agents Phase 4
26 Antitubercular Agents Phase 4
27 Topoisomerase Inhibitors Phase 4
28 Anti-Infective Agents, Urinary Phase 4
29 Cytochrome P-450 CYP1A2 Inhibitors Phase 4
30 Antibodies Phase 4
31 Antibodies, Monoclonal Phase 4
32 Immunoglobulins Phase 4
33
Bezafibrate Approved, Investigational Phase 3 41859-67-0 39042
34
Vancomycin Approved Phase 2, Phase 3 1404-90-6 441141 14969
35 Lipid Regulating Agents Phase 3
36 Hypolipidemic Agents Phase 3
37
Cladribine Approved, Investigational Phase 2 4291-63-8 20279
38
Curcumin Approved, Experimental, Investigational Phase 1, Phase 2 458-37-7 969516
39
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
40
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
41
Sulfasalazine Approved Phase 2 599-79-1 5359476 5353980
42
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
43
Ursodeoxycholic acid Approved, Investigational Phase 1, Phase 2 128-13-2 31401
44
Fenofibrate Approved Phase 1, Phase 2 49562-28-9 3339
45
Fluorouracil Approved Phase 2 51-21-8 3385
46
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
47
Gemcitabine Approved Phase 2 95058-81-4 60750
48
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
49
Pancrelipase Approved, Investigational Phase 2 53608-75-6
50
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904

Interventional clinical trials:

(show top 50) (show all 113)
# Name Status NCT ID Phase Drugs
1 Evaluation of Effectiveness and Safety of Oral Vancomycin in Treatment of Primary Sclerosing Cholangitis. Unknown status NCT02605213 Phase 4 Vancomycin;Placebo
2 A Study of Safety and Efficacy of Leflunomide for Maintenance of Remission in IgG4 Related Disease Completed NCT02703194 Phase 4 Prednisone;Leflunomide
3 Randomized Trial of Short Antibiotic Course to Decrease Post ERCP Cholangitis Recruiting NCT03087656 Phase 4 Ceftriaxone;Levofloxacin
4 A Prospective Multi-centric Belgian Trial to Validate the Use of Golimumab Serum Level Analysis Using the Dried Blood Spot (DBS) Methodology Active, not recruiting NCT02910375 Phase 4
5 Multicenter Randomized Trial Comparing Short-term Stenting Versus Balloon Dilatation for Dominant Strictures in Primary Sclerosing Cholangitis Unknown status NCT01398917 Phase 3
6 Probiotics in Patients With Primary Sclerosing Cholangitis and Inflammatory Bowel Disease- a Randomized Placebo-Controlled Cross-Over Trial Unknown status NCT00161148 Phase 3 Probiotics
7 The Effect of Bezafibrate on Cholestatic Itch Unknown status NCT02701166 Phase 3 Bezafibrate;Placebo
8 Multicentered Randomized Trial of High-dose Urso in Primary Sclerosing Cholangitis Completed NCT00059202 Phase 2, Phase 3 Ursodeoxycholic Acid
9 Treatment of Primary Sclerosing Cholangitis in Inflammatory Bowel Disease Patients With Oral Vancomycin by the Study of Its Antimicrobial and Immunomodulating Effects Completed NCT01802073 Phase 3 Oral Vancomycin
10 Diagnosis of Intraepithelial Neoplasia in Patients With Long Standing Ulcerative Colitis With Chromoscopic Guided Endomicroscopy Completed NCT00352404 Phase 3
11 Digital SpyGlass Cholangioscopy Confirmed Common Bile Duct Stones Clearance Without Fluoroscopy Completed NCT02967926 Phase 3
12 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Safety, Tolerability, and Efficacy of GS-9674 in Non-Cirrhotic Subjects With Primary Sclerosing Cholangitis Recruiting NCT03890120 Phase 3 Cilofexor;Placebo
13 Double-blind, Randomized, Placebo-controlled, Phase III Study Comparing Norursodeoxycholic Acid Capsules With Placebo in the Treatment of Primary Sclerosing Cholangitis Recruiting NCT03872921 Phase 3 Norursocholic Acid
14 A Prospective, Randomized, Multi-centered, Placebo-controlled Clinical Trial of Oral Vanycomycin in Adults With Primary Sclerosing Cholangitis Recruiting NCT03710122 Phase 2, Phase 3 Vancomycin
15 A Randomized, Global, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Vedolizumab IV for the Treatment of Primary Sclerosing Cholangitis, With Underlying Inflammatory Bowel Disease Withdrawn NCT03035058 Phase 3 Vedolizumab;Placebo
16 Phase II Pilot Study of Cladribine (2-Chlorodeoxyadenosine; 2-CdA) for Early Stage Primary Sclerosing Cholangitis Completed NCT00004762 Phase 2 cladribine
17 A Phase 2, Randomized, Double Blind, Placebo Controlled, Parallel Group, Multiple Center Study to Evaluate the Safety, Tolerability, and Efficacy of NGM282 Administered for 12 Weeks in Patients With Primary Sclerosing Cholangitis Completed NCT02704364 Phase 2
18 A Pilot, Open-Label Study to Evaluate the Safety, Tolerability and Efficacy of LUM001, an Apical Sodium-dependent Bile Acid Transporter Inhibitor (ASBTi), in Patients With Primary Sclerosing Cholangitis Completed NCT02061540 Phase 2 LUM001
19 PERSEUS: A Phase 2 Proof of Concept Study Investigating the Preliminary Efficacy and Safety of Cenicriviroc in Adult Subjects With Primary Sclerosing Cholangitis (PSC) Completed NCT02653625 Phase 2 Cenicriviroc 150 mg
20 An Open-Label Pilot Study Evaluating the Safety and Efficacy of Curcumin in Patients With Primary Sclerosing Cholangitis Completed NCT02978339 Phase 1, Phase 2 Curcumin
21 A Phase 2b, Dose-Ranging, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Safety and Efficacy of GS-6624, a Monoclonal Antibody Against Lysyl Oxidase Like 2 (LOXL2) in Subjects With Primary Sclerosing Cholangitis (PSC) Completed NCT01672853 Phase 2
22 Double-blind,Randomized, Placebo-controlled, Phase II Dose-finding Study Comparing Different Doses of Norursodeoxycholic Acid Capsules With Placebo in the Treatment of Primary Sclerosing Cholangitis Completed NCT01755507 Phase 2 norUDCA;Placebo
23 A Single Arm, Two-stage, Multi-centre, Phase II Clinical Trial Investigating the Safety and Activity of the Use of BTT1023 Targeting Vascular Adhesion Protein (VAP-1), in the Treatment of Patients With Primary Sclerosing Cholangitis (PSC). Completed NCT02239211 Phase 2 BTT1023
24 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Dose-Finding, Clinical Trial Evaluating the Efficacy and Safety of Obeticholic Acid in Subjects With Primary Sclerosing Cholangitis Completed NCT02177136 Phase 2 OCA;Placebo
25 Fecal Microbiota Transplantation for the Treatment of Primary Sclerosing Cholangitis. Completed NCT02424175 Phase 1, Phase 2
26 A Pilot Study of the Safety and Efficacy of AST-120 in the Treatment of Active Pouchitis Completed NCT00583076 Phase 2 AST-120
27 Rituximab (RTX) for IgG4-related Disease (IgG4-RD): a Prospective,Open-label Trial Completed NCT01584388 Phase 1, Phase 2 Rituximab
28 Phase 2 Study of Mitomycin C Therapy for Biliary Strictures in Patients With Primary Sclerosing Cholangitis Recruiting NCT01688024 Phase 2 Mitomycin C;Normal saline
29 A Proof-of-Concept and Dose-Ranging Study Investigating the Efficacy and Safety of HTD1801 in Adult Subjects With Primary Sclerosing Cholangitis (PSC) Recruiting NCT03333928 Phase 2 HTD1801;Placebo
30 A Randomized, Placebo-controlled Pilot Study of Sulfasalazine for the Treatment of Primary Sclerosing Cholangitis (PSC) Recruiting NCT03561584 Phase 2 Sulfasalazine;Placebo
31 An Efficacy Trial of Low Dose All-trans Retinoic Acid (ATRA) in Patients With Primary Sclerosing Cholangitis Recruiting NCT03359174 Phase 2 All-trans retinoic acid
32 An Adaptive,Multicentre, Phase IIa, Multi-disease Trial Investigating the Safety & Activity of a Single Infusion of Selected Mesenchymal Stromal Cells in the Treatment of Patients With Primary Sclerosing Cholangitis & Autoimmune Hepatitis Recruiting NCT02997878 Phase 1, Phase 2
33 Induction of Regulatory t Cells by Low Dose IL2 in Autoimmune and Inflammatory Diseases: a Transnosographic Approach Recruiting NCT01988506 Phase 2 Interleukin 2
34 A Phase 2, Randomized, Double-Blind, Placebo Controlled Study Evaluating the Safety, Tolerability, and Efficacy of Cilofexor in Subjects With Primary Sclerosing Cholangitis Without Cirrhosis Active, not recruiting NCT02943460 Phase 2 Cilofexor;Placebo to match Cilofexor
35 Intra-arterial Injection of Umbilical Cord Mesenchymal Stem Cells in Primary Sclerosing Cholangitis Active, not recruiting NCT03516006 Phase 1, Phase 2 UCMSC;UDCA
36 A Phase 2, Randomized, Double Blind, Placebo Controlled, Multiple Center Study to Evaluate the Safety, Tolerability, and Efficacy of Seladelpar Administered for 24 Weeks in Adult Patients With Primary Sclerosing Cholangitis (PSC) Not yet recruiting NCT04024813 Phase 2 Seladelpar;Placebo to match Seladelpar
37 A Phase 2, Randomized, Double-Blind Study of HTD1801 vs Ursodeoxycholic Acid (UDCA) in Adolescents With Primary Sclerosing Cholangitis (PSC) Not yet recruiting NCT03678480 Phase 2 HTD1801;Ursodeoxycholic Acid
38 Investigation of the Activity of Vidofludimus Calcium, a Novel, Orally Available, Small Molecule Inhibitor of Dihydroorotate Dehydrogenase, as a Treatment for Primary Sclerosing Cholangitis (PSC) Not yet recruiting NCT03722576 Phase 2 Vidofludimus calcium
39 Pilot Study of Fenofibrate in Primary Sclerosing Cholangitis Terminated NCT01142323 Phase 1, Phase 2 fenofibrate
40 A Randomized, Open-label, Phase 2 Study to Evaluate Safety and Efficacy of DUR-928 in Subjects With Primary Sclerosing Cholangitis (PSC) Terminated NCT03394781 Phase 2 DUR-928
41 Open Label, Phase II Investigation of Thalidomide for the Treatment of Primary Sclerosing Cholangitis Terminated NCT00953615 Phase 2 Thalidomide
42 Definitive Chemoradiation With Gemcitabine and Continuous 5- FU (Fluorouracil)Followed by High Dose Rate Brachytherapy or Stereotactic Body Radiation Therapy Boost in Locally Advanced Intra or Extrahepatic Cholangiocarcinoma Terminated NCT00983541 Phase 2 Fluorouracil (5-FU);Gemcitabine
43 Primary Sclerosing Cholangitis: Value of Computerized Tomographic Cholangiography and Intraductal Volumetric Measurement in Determining the Prognosis Withdrawn NCT00588458 Phase 2
44 A Pilot Study of Oral Hymecromone to Treat Adults With Primary Sclerosing Cholangitis Withdrawn NCT02780752 Phase 1, Phase 2 hymecromone
45 Phase 1 Study of Intrahepatic Reinfusion of Highly Purified CD133+ Stem Cells in Patients With End-Stage Liver Disease Unknown status NCT01025622 Phase 1
46 Open Label Pilot Study Evaluating Minocycline in Patients With Primary Sclerosing Cholangitis (PSC) Completed NCT00630942 Phase 1 Minocycline
47 A Pilot Study of Xifaxan in Patients With Primary Sclerosing Cholangitis Completed NCT01695174 Phase 1 Xifaxan
48 A First in Human, Randomized, Double-Blind Study to Assess Safety, Tolerability, and Pharmacokinetics of Single, Ascending Doses of HTD1801 in Healthy Subjects Completed NCT03099603 Phase 1 HTD1801
49 Pilot Study of Budesonide for Patients With Primary Sclerosing Cholangitis Completed NCT00004842 Phase 1 budesonide
50 A Pilot Study of Vancomycin or Metronidazole in Patients With Primary Sclerosing Cholangitis Completed NCT01085760 Phase 1 Vancomycin;Vancomycin;Metronidazole;Metronidazole;Vancomycin

Search NIH Clinical Center for Cholangitis, Primary Sclerosing

Cochrane evidence based reviews: cholangitis, sclerosing

Genetic Tests for Cholangitis, Primary Sclerosing

Genetic tests related to Cholangitis, Primary Sclerosing:

# Genetic test Affiliating Genes
1 Primary Sclerosing Cholangitis 29

Anatomical Context for Cholangitis, Primary Sclerosing

MalaCards organs/tissues related to Cholangitis, Primary Sclerosing:

41
Liver, Testes, Thyroid, Spleen, Skin, Eye, Colon

Publications for Cholangitis, Primary Sclerosing

Articles related to Cholangitis, Primary Sclerosing:

(show top 50) (show all 4549)
# Title Authors PMID Year
1
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. 9 38 8
12783301 2003
2
Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. 38 8
21151127 2011
3
Death receptor 5 mediated-apoptosis contributes to cholestatic liver disease. 38 8
18667695 2008
4
Hepatic endothelial CCL25 mediates the recruitment of CCR9+ gut-homing lymphocytes to the liver in primary sclerosing cholangitis. 38 8
15557349 2004
5
Primary sclerosing cholangitis. 38 8
7877651 1995
6
Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis. 8
19079170 2008
7
New insights into autoimmune cholangitis through animal models. 9 38
20460897 2010
8
Gut homing receptors on CD8 T cells are retinoic acid dependent and not maintained by liver dendritic or stellate cells. 9 38
19233184 2009
9
Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis. 9 38
18992954 2009
10
PXR: a xenobiotic receptor of diverse function implicated in pharmacogenetics. 9 38
19018724 2008
11
Disturbed colocalization of multidrug resistance protein 2 and radixin in human cholestatic liver diseases. 9 38
17725603 2008
12
What is the role of cystic fibrosis transmembrane conductance regulator dysfunction in primary sclerosing cholangitis? 9 38
17719926 2007
13
Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride channel function. 9 38
17719933 2007
14
High aspartate to alanine aminotransferase ratio is an indicator of cirrhosis and poor outcome in patients with primary sclerosing cholangitis. 9 38
17498256 2007
15
Mucin-producing bile duct carcinoma arising from primary sclerosing cholangitis: a case report. 9 38
17384480 2007
16
MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes. 9 38
17295178 2007
17
Analysis of MAdCAM-1 and ICAM-1 polymorphisms in 365 Scandinavian patients with primary sclerosing cholangitis. 9 38
16750586 2006
18
Polymorphisms in the steroid and xenobiotic receptor gene influence survival in primary sclerosing cholangitis. 9 38
16952547 2006
19
Serum reactivity against bacterial pyruvate dehydrogenase: increasing the specificity of anti-mitochondrial antibodies for the diagnosis of primary biliary cirrhosis. 9 38
17162370 2006
20
Cholestasis and cholestatic syndromes. 9 38
16550034 2006
21
Expression of epithelial cellular adhesion molecule (Ep-CAM) in chronic (necro-)inflammatory liver diseases and hepatocellular carcinoma. 9 38
16364680 2006
22
Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis. 9 38
15784035 2005
23
Induction of colitis in cftr-/- mice results in bile duct injury. 9 38
15064232 2004
24
BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis. 9 38
14999697 2004
25
Site-characteristic expression and induction of trefoil factor family 1, 2 and 3 and malignant brain tumor-1 in normal and diseased intrahepatic bile ducts relates to biliary pathophysiology. 9 38
15101998 2004
26
Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population. 9 38
14567462 2003
27
Expression of deleted in malignant brain tumor-1 (DMBT1) molecule in biliary epithelium is augmented in hepatolithiasis: possible participation in lithogenesis. 9 38
12870778 2003
28
Heterogeneity of ductular reactions in adult rat and human liver revealed by novel expression of deleted in malignant brain tumor 1. 9 38
12368192 2002
29
Expression of hepatic transporters OATP-C and MRP2 in primary sclerosing cholangitis. 9 38
11454187 2001
30
MAdCAM-1 expressed in chronic inflammatory liver disease supports mucosal lymphocyte adhesion to hepatic endothelium (MAdCAM-1 in chronic inflammatory liver disease). 9 38
11343233 2001
31
Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1. 9 38
11343230 2001
32
Overlap syndrome between autoimmune hepatitis and primary sclerosing cholangitis in two cases. 9 38
10833101 2000
33
Anti-neutrophil cytoplasmic antibodies in patients with chronic liver diseases: prevalence, antigen specificity and predictive value for diagnosis of autoimmune liver disease. Swedish Internal Medicine Liver Club (SILK) 9 38
10824890 2000
34
Reduced hepatic content of dehydroepiandrosterone sulphotransferase in chronic liver diseases. 9 38
10726960 2000
35
Immunohistochemical study on phenotypical changes of hepatocytes in liver disease with reference to extracellular matrix composition. 9 38
9928763 1999
36
Biliary lactoferrin concentrations are increased in active inflammatory bowel disease: a factor in the pathogenesis of primary sclerosing cholangitis? 9 38
9791051 1998
37
Antineutrophil cytoplasmic antibodies in primary sclerosing cholangitis: defined specificities may be associated with distinct clinical features. 9 38
9831423 1998
38
Human leukocyte antigen-C genes and susceptibility to primary sclerosing cholangitis. 9 38
9731555 1998
39
Identification and characterization of autoantibodies against catalase and alpha-enolase in patients with primary sclerosing cholangitis. 9 38
9649223 1998
40
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. 9 38
9502419 1998
41
An atypical presentation for primary sclerosing cholangitis. 9 38
9365127 1997
42
Two spatially distant epitopes of human lactoferrin. 9 38
8880213 1996
43
Anti-lactoferrin autoantibodies: relation between epitopes and iron-binding domain. 9 38
8864834 1996
44
Anti-neutrophil cytoplasmic antibodies (ANCA) directed against bactericidal/permeability increasing protein (BPI): a new seromarker for inflammatory bowel disease and associated disorders. 9 38
8603534 1996
45
Survey of cystic fibrosis transmembrane conductance regulator genotypes in primary sclerosing cholangitis. 9 38
8617131 1996
46
Distribution of lactoferrin and 60/65 kDa heat shock protein in normal and inflamed human intestine and liver. 9 38
8566841 1996
47
HLA-DR and HLA-DQ are not markers for rapid disease progression in primary sclerosing cholangitis. 9 38
7875491 1995
48
Biliary epithelial expression of pyruvate dehydrogenase complex in primary biliary cirrhosis: an immunohistochemical and immunoelectron microscopic study. 9 38
7821922 1995
49
Lactoferrin, anti-lactoferrin antibodies and inflammatory disease. 9 38
8296671 1993
50
Anti-lactoferrin antibodies and other types of ANCA in ulcerative colitis, primary sclerosing cholangitis, and Crohn's disease. 9 38
8432453 1993

Variations for Cholangitis, Primary Sclerosing

Expression for Cholangitis, Primary Sclerosing

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

Pathways for Cholangitis, Primary Sclerosing

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

# Super pathways Score Top Affiliating Genes
1 10.99 SULT2A1 CFTR ABCB4
2 10.6 SULT2A1 ABCB4
3 10.49 SULT2A1 NR1I2
4 10.48 MST1 MPO ELANE
5 10.33 NR1I2 MPO

GO Terms for Cholangitis, Primary Sclerosing

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.81 MST1 MPO GPT GGT1 ENO1 ELANE
2 cell surface GO:0009986 9.73 HLA-C HLA-A ENO1 ELANE CTSG CFTR
3 secretory granule GO:0030141 9.61 MPO ELANE CTSG
4 recycling endosome membrane GO:0055038 9.58 HLA-C HLA-A CFTR
5 phagocytic vesicle membrane GO:0030670 9.5 HLA-C HLA-A DMBT1
6 MHC class I protein complex GO:0042612 9.37 HLA-C HLA-A
7 extracellular exosome GO:0070062 9.36 MPO HLA-C HLA-A GPT GGT1 ENO1
8 azurophil granule lumen GO:0035578 9.26 MPO ELANE CTSG BPI

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.89 HLA-C HLA-A CTSG BPI AIRE
2 neutrophil degranulation GO:0043312 9.85 MPO HLA-C ELANE CTSG BPI
3 defense response to bacterium GO:0042742 9.81 MPO ELANE CTSG BPI
4 defense response to Gram-negative bacterium GO:0050829 9.7 DMBT1 CTSG BPI
5 response to lipopolysaccharide GO:0032496 9.56 MPO GGT1 ELANE CTSG
6 antimicrobial humoral response GO:0019730 9.5 ELANE CTSG BPI
7 positive regulation of immune response GO:0050778 9.48 ELANE CTSG
8 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.43 HLA-C HLA-A
9 antigen processing and presentation of endogenous peptide antigen via MHC class Ib GO:0002476 9.37 HLA-C HLA-A
10 response to yeast GO:0001878 9.16 MPO ELANE
11 defense response to fungus GO:0050832 9.13 MPO ELANE CTSG
12 xenobiotic transport GO:0042908 9.1 NR1I2
13 negative regulation of growth of symbiont in host GO:0044130 8.8 MPO ELANE CTSG

Sources for Cholangitis, Primary Sclerosing

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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