Budd-Chiari syndrome

Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.



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Narrow down the case reports



Total: 600 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(55.1%)
20608021
Budd-Chiari syndrome.
Bane A, Kebede D.
Ethiop Med J. 2010;48(2):169-75.
Anemia Hepatomegaly Anasarca
Anticoagulants Budd-Chiari Syndrome Combined Modality Therapy Differential Diagnosis Females Hepatomegaly Homo sapiens Male
1
(55.1%)
9519690
Anticardiolipin antibody-related Budd-Chiari syndrome: report of a case.
Tsai MS, Cheng NY, Wang CK, Liao LY, Wang CS.
Kaohsiung J Med Sci. 1998;14(1):48-52.
Edema Hepatosplenomegaly Iron deficiency anemia
Adult Antibodies, Anticardiolipin Budd-Chiari Syndrome Females Homo sapiens
1
(55.1%)
7724132
Postpartum thrombotic thrombocytopenic purpura complicated by Budd-Chiari syndrome.
Hsu HW, Belfort MA, Vernino S, Moake JL, Moise KJ Jr.
Obstet Gynecol. 1995;85(5 Pt 2):839-43.
Hepatosplenomegaly Microangiopathic hemolytic anemia Elevated alkaline phosphatase
Adult Budd-Chiari Syndrome Differential Diagnosis Females HELLP Syndrome Homo sapiens Magnetic Resonance Imaging Plasma Exchange Platelet Transfusion Postpartum Period Pre-Eclampsia Pregnancy Purpura, Thrombotic Thrombocytopenic X-Ray Computed Tomography
1
(55.1%)
1844528
[Budd-Chiari syndrome].
Cifuentes J, Viscarra M, Emilfork M.
Rev Chil Pediatr. 1991;62(4):260-3.
Portal hypertension Anemia Pleural effusion Hepatomegaly
Budd-Chiari Syndrome Child, Preschool Females Homo sapiens
5
(49.7%)
22595216
Budd-Chiari disease in infancy: three cases.
Mehta P, Shah I, Bhatnagar S.
Paediatr Int Child Health. 2012;32(2):89-92.
Jaundice Fever Hepatomegaly Hepatic vein thrombosis
Ascites Budd-Chiari Syndrome Fatal Outcome Females Hepatomegaly Homo sapiens Infant Male Ultrasonography X-Ray Computed Tomography
5
(49.7%)
16517788
Catheter-directed thrombolysis and thrombectomy for the Budd-Chiari syndrome in paroxysmal nocturnal hemoglobinuria in three patients.
Kuo GP, Brodsky RA, Kim HS.
J Vasc Interv Radiol. 2006;17(2 Pt 1):383-7.
Jaundice Hepatomegaly Hemoglobinuria Hepatic vein thrombosis
Adult Budd-Chiari Syndrome Catheterization Combined Modality Therapy Females Hemoglobinuria, Paroxysmal Homo sapiens Male Thrombectomy Thrombolytic Therapy
7
(48.9%)
23935352
Treatment of a patient with classical paroxysmal nocturnal hemoglobinuria and Budd-Chiari syndrome, with complement inhibitor eculizumab: Case Report.
Mandala E, Lafaras C, Goulis I, Tsioni K, Georgopoulou V, Ilonidis G.
Hippokratia. 2013;17(1):81-4.
Hepatosplenomegaly Hemolytic anemia
C5
7
(48.9%)
21830019
Essential thrombocytosis and antiphospholipid antibody syndrome causing chronic Budd-Chiari syndrome.
Yadav D, Chandra J, Sharma S, Singh V.
Indian J Pediatr. 2012;79(4):538-40.
Hepatosplenomegaly Hypochromic anemia
Anticoagulants Antiphospholipid Syndrome Budd-Chiari Syndrome Developing Countries Differential Diagnosis Homo sapiens Male Thrombocythemia, Essential X-Ray Computed Tomography
9
(48.7%)
17597031
Giant right atrial myxoma mimicking hepatic cirrhosis: a case report.
Tok M, Oc M, Ucar HI, Dogan OF, Ozyuksel A, Kaya B, Farsak MB, Yorgancioglu AC.
Heart Surg Forum. 2007;10(2):E107-9.
Cirrhosis Anemia Fever
Differential Diagnosis Echocardiography, Transesophageal Follow-Up Studies Health Risk Assessment Heart Atrium Heart Neoplasm Homo sapiens Liver Cirrhosis Liver Function Tests Magnetic Resonance Imaging Male Middle Aged Myxoma
10
(46.2%)
26137030
Budd-Chiari syndrome, a rare complication of multicentric Castleman disease: A case report.
Song K, Li M.
Oncol Lett. 2015;9(5):2153-2156.
Edema Splenomegaly Intracranial hemorrhage Hepatomegaly
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0001409 Portal hypertension Very frequent (99-80%)
HP:0001541 Ascites Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0001394 Cirrhosis Frequent (79-30%)
HP:0001945 Fever Frequent (79-30%)
HP:0002027 Abdominal pain Frequent (79-30%)
HP:0002040 Esophageal varix Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0002910 Elevated hepatic transaminase Frequent (79-30%)
HP:0000952 Jaundice Occasional (29-5%)
HP:0001082 Cholecystitis Occasional (29-5%)
HP:0001824 Weight loss Occasional (29-5%)
HP:0002024 Malabsorption Occasional (29-5%)
HP:0002239 Gastrointestinal hemorrhage Occasional (29-5%)
HP:0002586 Peritonitis Occasional (29-5%)
HP:0005214 Intestinal obstruction Occasional (29-5%)
HP:0005244 Gastrointestinal infarctions Occasional (29-5%)
HP:0006554 Acute hepatic failure Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 126

HPO ID Term # of case reports
HP:0001541 Ascites 51
HP:0001394 Cirrhosis 40
HP:0030243 Hepatic vein thrombosis 29
HP:0001409 Portal hypertension 27
HP:0002027 Abdominal pain 23
HP:0030242 Portal vein thrombosis 15
HP:0002240 Hepatomegaly 14
HP:0004936 Venous thrombosis 14
HP:0000969 Edema 12
HP:0100279 Ulcerative colitis 12
HP:0002204 Pulmonary embolism 10
HP:0100724 Hypercoagulability 10
HP:0025343 Lupus anticoagulant 9
HP:0000952 Jaundice 6
HP:0001399 Hepatic failure 6
HP:0002617 Dilatation 6
HP:0012115 Hepatitis 6
HP:0002480 Hepatic encephalopathy 5
HP:0030731 Carcinoma 5
HP:0000822 Hypertension 4
HP:0001903 Anemia 4
HP:0001907 Thromboembolism 4
HP:0002563 Constrictive pericarditis 4
HP:0006562 Viral hepatitis 4
HP:0012175 Resistance to activated protein C 4
HP:0001297 Stroke 3
HP:0001396 Cholestasis 3
HP:0001658 Myocardial infarction 3
HP:0001733 Pancreatitis 3
HP:0001873 Thrombocytopenia 3
HP:0001945 Fever 3
HP:0001971 Hypersplenism 3
HP:0002040 Esophageal varix 3
HP:0002625 Deep venous thrombosis 3
HP:0002664 Neoplasm 3
HP:0100523 Liver abscess 3
HP:0100806 Sepsis 3
HP:0000100 Nephrotic syndrome 2
HP:0001824 Weight loss 2
HP:0002013 Vomiting 2
HP:0002045 Hypothermia 2
HP:0002090 Pneumonia 2
HP:0002202 Pleural effusion 2
HP:0002243 Protein-losing enteropathy 2
HP:0002488 Acute leukemia 2
HP:0002605 Hepatic necrosis 2
HP:0002613 Biliary cirrhosis 2
HP:0002619 Varicose veins 2
HP:0002861 Melanoma 2
HP:0003641 Hemoglobinuria 2
HP:0004418 Thrombophlebitis 2
HP:0005305 Cerebral venous thrombosis 2
HP:0011473 Villous atrophy 2
HP:0025615 Abscess 2
HP:0030151 Cholangitis 2
HP:0030169 Gastric varix 2
HP:0031273 Shock 2
HP:0200042 Skin ulcer 2
HP:0200123 Chronic hepatitis 2
HP:0410019 Epigastric pain 2
HP:0000093 Proteinuria 1
HP:0000238 Hydrocephalus 1
HP:0000709 Psychosis 1
HP:0000819 Diabetes mellitus 1
HP:0000988 Skin rash 1
HP:0001048 Cavernous hemangioma 1
HP:0001082 Cholecystitis 1
HP:0001336 Myoclonus 1
HP:0001395 Hepatic fibrosis 1
HP:0001413 Micronodular cirrhosis 1
HP:0001635 Congestive heart failure 1
HP:0001655 Patent foramen ovale 1
HP:0001735 Acute pancreatitis 1
HP:0001876 Pancytopenia 1
HP:0001880 Eosinophilia 1
HP:0001894 Thrombocytosis 1
HP:0001909 Leukemia 1
HP:0001953 Diabetic ketoacidosis 1
HP:0002014 Diarrhea 1
HP:0002018 Nausea 1
HP:0002024 Malabsorption 1
HP:0002196 Myelopathy 1
HP:0002239 Gastrointestinal hemorrhage 1
HP:0002248 Hematemesis 1
HP:0002527 Falls 1
HP:0002571 Achalasia 1
HP:0002588 Duodenal ulcer 1
HP:0002615 Hypotension 1
HP:0002829 Arthralgia 1
HP:0003073 Hypoalbuminemia 1
HP:0003075 Hypoproteinemia 1
HP:0003228 Hypernatremia 1
HP:0003270 Abdominal distention 1
HP:0003419 Low back pain 1
HP:0004420 Arterial thrombosis 1
HP:0005112 Abdominal aortic aneurysm 1
HP:0005521 Disseminated intravascular coagulation 1
HP:0005558 Chronic leukemia 1
HP:0006580 Portal fibrosis 1
HP:0006772 Renal angiomyolipoma 1
HP:0011675 Arrhythmia 1
HP:0011854 Hemoperitoneum 1
HP:0011974 Myelofibrosis 1
HP:0012050 Anasarca 1
HP:0012418 Hypoxemia 1
HP:0012578 Membranous nephropathy 1
HP:0025142 Constitutional symptom 1
HP:0025322 Venous occlusion 1
HP:0025324 Arterial occlusion 1
HP:0030017 Vaginismus 1
HP:0030065 Primitive neuroectodermal tumor 1
HP:0030148 Heart murmur 1
HP:0030955 Alcoholism 1
HP:0031368 Intestinal perforation 1
HP:0031369 Colon perforation 1
HP:0032061 Hypereosinophilia 1
HP:0032154 Aphthous ulcer 1
HP:0040319 Dark urine 1
HP:0100570 Carcinoid tumor 1
HP:0100584 Endocarditis 1
HP:0100598 Pulmonary edema 1
HP:0100601 Eclampsia 1
HP:0100790 Hernia 1
HP:0100817 Renovascular hypertension 1
HP:0200036 Skin nodule 1
HP:0200120 Chronic active hepatitis 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
F5 coagulation factor V 2153
JAK2 Janus kinase 2 3717