Primary sclerosing cholangitis

Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.



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Narrow down the case reports



Total: 490 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(48.0%)
24772740
Leukemoid reaction, a rare manifestation of autoimmune hemolytic anemia in a case of small duct primary sclerosing cholangitis.
Salagre KD, Sahay RN, Patil A, Pati A, Joshi A, Shukla A.
J Assoc Physicians India. 2013;61(10):760-2.
Jaundice Hemolytic anemia
Adrenal Cortex Hormones Cholangitis, Sclerosing Differential Diagnosis Females Homo sapiens Leukemoid Reaction Middle Aged
1
(48.0%)
15492611
Rapid progression of autoimmune hepatitis in the background of primary sclerosing cholangitis.
Hong-Curtis J, Yeh MM, Jain D, Lee JH.
J Clin Gastroenterol. 2004;38(10):906-9.
Jaundice Hemolytic anemia
Adult Autoimmune Chronic Hepatitis Biopsy Blood Chemical Analysis Cholangitis, Sclerosing Disease Progression Endoscopic Retrograde Cholangiopancreatography Females Glucocorticoids Homo sapiens Liver Liver Function Tests Ulcerative Colitis
1
(48.0%)
7851854
Successful treatment of primary sclerosing cholangitis with cyclosporine and corticosteroid.
Kyokane K, Ichihara T, Horisawa M, Suzuki N, Ichihara S, Suga S, Nakao A, Morise K.
Hepatogastroenterology. 1994;41(5):449-52.
Jaundice Anemia
Cholangitis, Sclerosing Combination Drug Therapy Homo sapiens Male Pancreatic Diseases Remission Induction
4
(44.2%)
10365542
Primary sclerosing cholangitis in a child.
Lin WT, Lin SJ, Ni YH, Chen HL, Wang HP, Chu JS, Chang MH.
J Formos Med Assoc. 1999;98(3):209-13.
Eosinophilia Fever Hepatomegaly
Age of Onset Child, Preschool Cholagogues and Choleretics Cholangitis, Sclerosing Endoscopic Retrograde Cholangiopancreatography Eosinophilia Females Homo sapiens Liver Taiwan
5
(43.7%)
18589191
Tumor necrosis factor-alpha inhibitor-induced lupus-like syndrome presenting as fever of unknown origin in a liver transplant recipient: case report and concise review of the literature.
Page AV, Liles WC.
Transplant Proc. 2008;40(5):1768-70.
Anemia Fever Ulcerative colitis
TNF
Adult Anti-Inflammatory Agents Antibodies, Monoclonal, Humanized Fever of Unknown Origin Homo sapiens Lupus Erythematosus, Systemic Male Monoclonal Antibodies Postoperative Complications Tumor Necrosis Factor-alpha
5
(43.7%)
1568030
A case of primary intrahepatic sclerosing cholangitis (PISC) complicated with atypical biliary epithelial proliferation.
Aizawa K, Kawaguchi S, Doi M, Mizuno W, Uragami K, Oka T, Miyamoto H, Itoh H, Nishioka S.
Intern Med. 1992;31(1):114-21.
Anemia Duodenal ulcer Elevated alkaline phosphatase
Bile Duct Neoplasms Cholangitis, Sclerosing Differential Diagnosis Endoscopic Retrograde Cholangiopancreatography Epithelium Females Homo sapiens
7
(43.3%)
8887045
Primary sclerosing cholangitis associated with increased peripheral eosinophils and serum IgE.
Shimomura I, Takase Y, Matsumoto S, Kuyama J, Nakajima T, Maeda H, Sugase T, Hata A, Hanada M, Okuno M.
J Gastroenterol. 1996;31(5):737-41.
Jaundice Eosinophilia Fever
IGHE
Adult Cholangitis, Sclerosing Differential Diagnosis Endoscopic Retrograde Cholangiopancreatography Eosinophilia Glucocorticoids Homo sapiens Immunoglobulin E Male
7
(43.3%)
8213721
Eosinophilic sclerosing cholangitis associated with hypereosinophilic syndrome.
Grauer L, Padilla VM 3rd, Bouza L, Barkin JS.
Am J Gastroenterol. 1993;88(10):1764-9.
Jaundice Eosinophilia Fever
Adult Cholangitis, Sclerosing Homo sapiens Male
9
(42.4%)
8525344
[Pruritus--also a challenge in internal medicine].
Brunner W.
Schweiz Med Wochenschr. 1995;125(46):2244-50.
Diabetes mellitus Cholestasis Leukemia
Adult Cholangitis, Sclerosing Differential Diagnosis Females Hematological Disease Hodgkin Disease Homo sapiens Male Metabolic Diseases Middle Aged Polycythemia Vera Pruritus Uremia
10
(40.4%)
15624373
A child with primary sclerosing cholangitis successfully treated by liver transplantation.
Chen CH, Ho MC, Lee PH, Chang MH, Jeng YM, Ni YH.
Acta Paediatr Taiwan. 2004;45(4):239-41.
Jaundice Splenomegaly Fever
Abdominal Pain Child Cholangitis, Sclerosing Endoscopic Retrograde Cholangiopancreatography Females Fever Homo sapiens
        

Phenotype(s) retrieved from Orphanet

    Total: 55

HPO ID Term Frequency
HP:0001396 Cholestasis Very frequent (99-80%)
HP:0002960 Autoimmunity Very frequent (99-80%)
HP:0012440 Abnormal biliary tract morphology Very frequent (99-80%)
HP:0001394 Cirrhosis Frequent (79-30%)
HP:0001395 Hepatic fibrosis Frequent (79-30%)
HP:0001409 Portal hypertension Frequent (79-30%)
HP:0001433 Hepatosplenomegaly Frequent (79-30%)
HP:0001541 Ascites Frequent (79-30%)
HP:0001744 Splenomegaly Frequent (79-30%)
HP:0001824 Weight loss Frequent (79-30%)
HP:0001945 Fever Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0002910 Elevated hepatic transaminase Frequent (79-30%)
HP:0010638 Elevated alkaline phosphatase of hepatic origin Frequent (79-30%)
HP:0012522 Spider hemangioma Frequent (79-30%)
HP:0012700 Abnormal large intestine physiology Frequent (79-30%)
HP:0030168 Dilated superficial abdominal veins Frequent (79-30%)
HP:0100279 Ulcerative colitis Frequent (79-30%)
HP:0100869 Palmar telangiectasia Frequent (79-30%)
HP:0000083 Renal insufficiency Occasional (29-5%)
HP:0000716 Depressivity Occasional (29-5%)
HP:0000938 Osteopenia Occasional (29-5%)
HP:0000939 Osteoporosis Occasional (29-5%)
HP:0000952 Jaundice Occasional (29-5%)
HP:0000989 Pruritus Occasional (29-5%)
HP:0001081 Cholelithiasis Occasional (29-5%)
HP:0001402 Hepatocellular carcinoma Occasional (29-5%)
HP:0001635 Congestive heart failure Occasional (29-5%)
HP:0001733 Pancreatitis Occasional (29-5%)
HP:0002027 Abdominal pain Occasional (29-5%)
HP:0002202 Pleural effusion Occasional (29-5%)
HP:0002608 Celiac disease Occasional (29-5%)
HP:0003073 Hypoalbuminemia Occasional (29-5%)
HP:0003459 Polyclonal elevation of IgM Occasional (29-5%)
HP:0003700 Generalized amyotrophy Occasional (29-5%)
HP:0004905 Low levels of vitamin A Occasional (29-5%)
HP:0008151 Prolonged prothrombin time Occasional (29-5%)
HP:0011892 Low levels of vitamin K Occasional (29-5%)
HP:0012115 Hepatitis Occasional (29-5%)
HP:0012378 Fatigue Occasional (29-5%)
HP:0030153 Cholangiocarcinoma Occasional (29-5%)
HP:0040275 Adenocarcinoma of the large intestine Occasional (29-5%)
HP:0100512 Low levels of vitamin D Occasional (29-5%)
HP:0100513 Low levels of vitamin E Occasional (29-5%)
HP:0100626 Chronic hepatic failure Occasional (29-5%)
HP:0100646 Thyroiditis Occasional (29-5%)
HP:0100651 Type I diabetes mellitus Occasional (29-5%)
HP:0000554 Uveitis Very rare (4-1%)
HP:0001298 Encephalopathy Very rare (4-1%)
HP:0006554 Acute hepatic failure Very rare (4-1%)
HP:0100575 Neoplasm of the gallbladder Very rare (4-1%)
HP:0001879 Abnormal eosinophil morphology Excluded (0%)
HP:0005429 Recurrent systemic pyogenic infections Excluded (0%)
HP:0011034 Amyloidosis Excluded (0%)
HP:0100727 Histiocytosis Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 111

HPO ID Term # of case reports
HP:0100279 Ulcerative colitis 88
HP:0030151 Cholangitis 25
HP:0001394 Cirrhosis 23
HP:0030731 Carcinoma 19
HP:0001396 Cholestasis 11
HP:0012115 Hepatitis 11
HP:0000952 Jaundice 9
HP:0006280 Chronic pancreatitis 9
HP:0006562 Viral hepatitis 8
HP:0002583 Colitis 7
HP:0002617 Dilatation 7
HP:0000819 Diabetes mellitus 5
HP:0000989 Pruritus 5
HP:0001945 Fever 5
HP:0001733 Pancreatitis 4
HP:0001880 Eosinophilia 4
HP:0002721 Immunodeficiency 4
HP:0003003 Colon cancer 4
HP:0005912 Biliary atresia 4
HP:0200120 Chronic active hepatitis 4
HP:0001369 Arthritis 3
HP:0001399 Hepatic failure 3
HP:0001406 Intrahepatic cholestasis 3
HP:0002027 Abdominal pain 3
HP:0002090 Pneumonia 3
HP:0000099 Glomerulonephritis 2
HP:0000112 Nephropathy 2
HP:0001370 Rheumatoid arthritis 2
HP:0001735 Acute pancreatitis 2
HP:0001878 Hemolytic anemia 2
HP:0002040 Esophageal varix 2
HP:0002099 Asthma 2
HP:0002586 Peritonitis 2
HP:0002613 Biliary cirrhosis 2
HP:0002664 Neoplasm 2
HP:0002716 Lymphadenopathy 2
HP:0002961 Dysgammaglobulinemia 2
HP:0012378 Fatigue 2
HP:0030242 Portal vein thrombosis 2
HP:0032061 Hypereosinophilia 2
HP:0100523 Liver abscess 2
HP:0100646 Thyroiditis 2
HP:0100806 Sepsis 2
HP:0200123 Chronic hepatitis 2
HP:0000100 Nephrotic syndrome 1
HP:0000135 Hypogonadism 1
HP:0000491 Keratitis 1
HP:0000508 Ptosis 1
HP:0000618 Blindness 1
HP:0000821 Hypothyroidism 1
HP:0000822 Hypertension 1
HP:0000836 Hyperthyroidism 1
HP:0000979 Purpura 1
HP:0001009 Telangiectasia 1
HP:0001081 Cholelithiasis 1
HP:0001082 Cholecystitis 1
HP:0001101 Iritis 1
HP:0001405 Periportal fibrosis 1
HP:0001408 Bile duct proliferation 1
HP:0001409 Portal hypertension 1
HP:0001695 Cardiac arrest 1
HP:0001701 Pericarditis 1
HP:0001824 Weight loss 1
HP:0001903 Anemia 1
HP:0001907 Thromboembolism 1
HP:0002110 Bronchiectasis 1
HP:0002196 Myelopathy 1
HP:0002202 Pleural effusion 1
HP:0002243 Protein-losing enteropathy 1
HP:0002254 Intermittent diarrhea 1
HP:0002570 Steatorrhea 1
HP:0002638 Superficial thrombophlebitis 1
HP:0002835 Aspiration 1
HP:0002904 Hyperbilirubinemia 1
HP:0002960 Autoimmunity 1
HP:0003040 Arthropathy 1
HP:0003124 Hypercholesterolemia 1
HP:0003326 Myalgia 1
HP:0003761 Calcinosis 1
HP:0004420 Arterial thrombosis 1
HP:0004947 Arteriovenous fistula 1
HP:0005200 Retroperitoneal fibrosis 1
HP:0005523 Lymphoproliferative disorder 1
HP:0010450 Esophageal stenosis 1
HP:0010783 Erythema 1
HP:0011458 Abdominal symptom 1
HP:0011838 Sclerodactyly 1
HP:0012050 Anasarca 1
HP:0012125 Prostate cancer 1
HP:0012735 Cough 1
HP:0025143 Chills 1
HP:0025343 Lupus anticoagulant 1
HP:0025520 Calcinosis cutis 1
HP:0030154 Gallbladder perforation 1
HP:0030167 Antimitochondrial antibody positivity 1
HP:0030430 Neuroma 1
HP:0030880 Raynaud phenomenon 1
HP:0031274 Hypovolemic shock 1
HP:0031281 Sialadenitis 1
HP:0031690 Opportunistic infection 1
HP:0031964 Elevated serum alanine aminotransferase 1
HP:0032169 Severe infection 1
HP:0032252 Granuloma 1
HP:0040276 Adenocarcinoma of the colon 1
HP:0100519 Anuria 1
HP:0100537 Fasciitis 1
HP:0100583 Corneal perforation 1
HP:0100699 Scarring 1
HP:0100749 Chest pain 1
HP:0100762 Hemobilia 1
HP:0200084 Giant cell hepatitis 1


Causative gene(s) retrieved from Orphanet

    Total: 3

Gene Symbol Gene Name Entrez Gene ID
GPR35 G protein-coupled receptor 35 2859
MST1 macrophage stimulating 1 4485
TCF4 transcription factor 4 6925