MCID: HPT002
MIFTS: 66

Hepatic Vein Thrombosis malady

Rare diseases, Cardiovascular diseases, Gastrointestinal diseases, Liver diseases, Blood diseases categories
Download this MalaCard

Summaries for Hepatic Vein Thrombosis

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 Budd-chiari syndrome is a rare disorder characterized by narrowing and obstruction of the veins of the liver. this narrowing or obstruction slows or prevents blood from flowing out of the liver and back to the heart which can lead to liver damage. while some people experience no symptoms, many experience fatigue, abdominal pain, nausea, and jaundice. other associated findings include an accumulation of fluid in the abdomen (ascites), an enlarged spleen and/or liver, and severe bleeding in the esophagus. the severity of the disorder varies from case to case, depending on the site and number of affected veins. drugs may be used to dissolve or decrease the size of the obstruction (if it is a clot). in some cases surgery is performed. in most cases, the cause of budd-chiari syndrome is unknown. last updated: 10/30/2010

MalaCards based summary: Hepatic Vein Thrombosis, also known as budd-chiari syndrome, is related to portal vein thrombosis and antiphospholipid syndrome, and has symptoms including ascitis, portal hypertension and splenomegaly. An important gene associated with Hepatic Vein Thrombosis is F5 (coagulation factor V (proaccelerin, labile factor)), and among its related pathways are G protein signaling Ras family GTPases in kinase cascades scheme and Collagen biosynthesis and modifying enzymes. The drugs antithrombin iii, human and antithrombin iii,recombinant and the compounds batroxobin and ancrod have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and heart, and related mouse phenotypes are tumorigenesis and liver/biliary system.

Wikipedia:65 Budd?Chiari syndrome is a condition caused by occlusion of the hepatic veins that drain the liver. It... more...

Description from OMIM:46 600880

Aliases & Classifications for Hepatic Vein Thrombosis

About this section
Sources:
8Disease Ontology, 10DISEASES, 62UMLS, 9diseasecard, 42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Hepatic Vein Thrombosis, Aliases & Descriptions:

Name: Hepatic Vein Thrombosis 8 10 62
Budd-Chiari Syndrome 8 9 42 22 46 44 48 62
Hepatic Veno-Occlusive Disease 42 44 48 62
 
Sinusoidal Obstruction Syndrome 48 62
Hepatic Vein Obstruction 42 62


Classifications:

Orphanet: 48 
Rare hepatic diseases


Characteristics (Orphanet epidemiological data):

48
budd-chiari syndrome:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age
hepatic veno-occlusive disease:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Any age


External Ids:

Disease Ontology8 DOID:11512
MeSH34 D006502
OMIM46 600880
MESH via Orphanet35 D006502, D006504
SNOMED-CT57 195436007, 38739001
ICD10 via Orphanet26 I82.0, K76.5
UMLS via Orphanet63 C0856761, C0019156
ICD1025 I82.0, K76.5

Related Diseases for Hepatic Vein Thrombosis

About this section

Diseases related to Hepatic Vein Thrombosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 132)
idRelated DiseaseScoreTop Affiliating Genes
1portal vein thrombosis31.5F5, PROS1
2antiphospholipid syndrome31.0F5, PROS1
3antithrombin iii deficiency30.9F5, PROS1
4protein c deficiency30.6SERPINE1, PROS1, F5
5sagittal sinus thrombosis30.6F5, PROS1
6pulmonary embolism30.5F5, PROS1
7lupus erythematosus30.5F5, PROS1
8thrombocytopenia30.4F5, PIGA
9protein s deficiency30.3SERPINE1, PROS1, F5
10hypertension30.2SERPINE1, PROS1, F5
11venous thrombosis30.1SERPINE1, JAK2, PROS1, F5
12thrombophilia30.1SERPINE1, PROS1, F5
13hepatitis11.1
14hepatic veno-occlusive disease with immunodeficiency10.9
15hematopoietic stem cell transplantation10.6
16hepatopulmonary syndrome10.5
17echinococcosis10.5
18leukemia10.5
19ulcerative colitis10.5
20colitis10.5
21cholangiocarcinoma10.5
22liver cirrhosis10.5
23familial mediterranean fever10.5
24thrombocytosis10.5
25alveolar echinococcosis10.5
26intrahepatic cholangiocarcinoma10.5
27essential thrombocythemia10.5
28nodular regenerative hyperplasia10.5
29central retinal vein occlusion10.4F5
30retinal vascular occlusion10.4F5
31nephroblastoma10.4
32meningococcemia10.4F5
33alcoholic liver cirrhosis10.4
34hepatocellular carcinoma10.4
35relapsing polychondritis10.4
36polyarteritis nodosa10.4
37cerebritis10.4
38hemangioendothelioma10.4
39f5-related budd-chiari syndrome10.4
40jak2-related budd-chiari syndrome10.4
41epithelioid hemangioendothelioma10.4
42paroxysmal nocturnal hemoglobinuria10.3
43hemoglobinuria10.3
44portal hypertension10.3
45graft versus host disease10.3
46hemochromatosis10.3
47esophageal varix10.3
48central pontine myelinolysis10.3
49acute graft versus host disease10.3
50coronary thrombosis10.2SERPINE1

Graphical network of the top 20 diseases related to Hepatic Vein Thrombosis:



Diseases related to hepatic vein thrombosis

Symptoms for Hepatic Vein Thrombosis

About this section

Symptoms by clinical synopsis from OMIM:

600880

Clinical features from OMIM:

600880

Symptoms:

48 (show all 20)
  • ascitis
  • portal hypertension
  • splenomegaly
  • esophageal varices
  • acute abdominal pain/colic
  • cirrhosis
  • hepatocellular liver disease/hepatic failure
  • hepatomegaly/liver enlargement (excluding storage disease)
  • abnormal hepatic enzymes/transaminases
  • fever/chilling
  • malabsorption/chronic diarrhea/steatorrhea
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • intestinal obstruction/ileus
  • peritonitis/peritoneal abscess
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • hepatitis/icterus/cholestasis
  • acute hepatic failure
  • acute ischemic syndrome
  • mesenteric/intestinal infarction
  • weight loss/loss of appetite/break in weight curve/general health alteration

HPO human phenotypes related to Hepatic Vein Thrombosis:

(show all 20)
id Description Frequency HPO Source Accession
1 portal hypertension hallmark (90%) HP:0001409
2 ascites hallmark (90%) HP:0001541
3 splenomegaly hallmark (90%) HP:0001744
4 cirrhosis typical (50%) HP:0001394
5 abdominal pain typical (50%) HP:0002027
6 esophageal varix typical (50%) HP:0002040
7 hepatomegaly typical (50%) HP:0002240
8 elevated hepatic transaminases typical (50%) HP:0002910
9 abnormality of temperature regulation typical (50%) HP:0004370
10 biliary tract abnormality occasional (7.5%) HP:0001080
11 weight loss occasional (7.5%) HP:0001824
12 malabsorption occasional (7.5%) HP:0002024
13 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
14 peritonitis occasional (7.5%) HP:0002586
15 intestinal obstruction occasional (7.5%) HP:0005214
16 gastrointestinal infarctions occasional (7.5%) HP:0005244
17 acute hepatic failure occasional (7.5%) HP:0006554
18 cirrhosis HP:0001394
19 hepatocellular carcinoma HP:0001402
20 budd-chiari syndrome HP:0002639

Drugs & Therapeutics for Hepatic Vein Thrombosis

About this section

Drug clinical trials:

Search ClinicalTrials for Hepatic Vein Thrombosis

Search NIH Clinical Center for Hepatic Vein Thrombosis

Inferred drug relations via UMLS62/NDF-RT40:

Show with subtypes

Genetic Tests for Hepatic Vein Thrombosis

About this section

Genetic tests related to Hepatic Vein Thrombosis:

id Genetic test Affiliating Genes
1 Budd-Chiari Syndrome22

Anatomical Context for Hepatic Vein Thrombosis

About this section

MalaCards organs/tissues related to Hepatic Vein Thrombosis:

32
Liver, Spleen, Heart

Animal Models for Hepatic Vein Thrombosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Hepatic Vein Thrombosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8JAK2, SERPINE1, PIGA
2MP:00053708.6SERPINE1, PROS1, F5
3MP:00053808.2F5, PROS1, JAK2, PIGA
4MP:00053768.2F5, PROS1, JAK2, SERPINE1
5MP:00053788.1PIGA, SERPINE1, JAK2, F5
6MP:00053978.1PIGA, SERPINE1, JAK2, PROS1
7MP:00107717.7F5, PROS1, JAK2, SERPINE1, PIGA
8MP:00107687.7PIGA, SERPINE1, JAK2, PROS1, F5

Publications for Hepatic Vein Thrombosis

About this section

Articles related to Hepatic Vein Thrombosis:

(show top 50)    (show all 72)
idTitleAuthorsYear
1
Gastrointestinal Variant of Lemierre Syndrome: Fusobacterium nucleatum Bacteremia-Associated Hepatic Vein Thrombosis: a Case Report and Literature Review. (24942004)
2014
2
Japanese case of Budd-Chiari syndrome due to hepatic vein thrombosis successfully treated with liver transplantation. (22248193)
2012
3
Subcapsular hepatic hematoma with right hepatic vein thrombosis: a complication of shock wave lithotripsy. (18542735)
2008
4
Hepatic vein thrombosis as a complication of ulcerative colitis in a 12-year-old patient. (17372822)
2007
5
Infliximab in the treatment of hepatic vein thrombosis (Budd-Chiari syndrome) in three patients with Behcet's syndrome. (17478465)
2007
6
Portal and hepatic vein thrombosis in liver abscess: CT findings. (17161932)
2007
7
Pivotal role of PAI-1 in a murine model of hepatic vein thrombosis. (16160004)
2006
8
Severe thrombophilic diathesis starting with hepatic vein thrombosis (BUDD-CHIARI syndrome) in a family with a new Protein S gene mutation. (16673558)
2006
9
Acute hepatic vein thrombosis after liver transplantation in a child with biliary atresia and absent inferior vena cava. (16797332)
2006
10
Familial high factor VIII level associated with hepatic vein thrombosis. (15319659)
2004
11
Hepatic vein thrombosis (Budd-Chiari syndrome). (11928075)
2002
12
Portal or hepatic vein thrombosis as the first presentation of a myeloproliferative disorder in patients with normal peripheral blood counts. (12181028)
2002
13
Hepatic vein thrombosis with ulcerative colitis. (10918734)
2000
14
Segmental hepatic vein thrombosis associated with heparin-induced thrombocytopenia II. (10664167)
2000
15
Hepatic vein thrombosis in a patient with mutant prothrombin 20210A allele. (9759637)
1998
16
Proposal of a new nomenclature for Budd-Chiari syndrome: hepatic vein thrombosis versus thrombosis of the inferior vena cava at its hepatic portion. (9794901)
1998
17
Prevalence of the factor V Leiden mutation in portal and hepatic vein thrombosis. (9771422)
1998
18
Reassessing the role of medical therapy in the management of hepatic vein thrombosis. (9346773)
1997
19
Prospective evaluation of the prevalence of factor V Leiden mutation in portal or hepatic vein thrombosis. (9365003)
1997
20
Balloon occlusion portography to diagnose new-onset left hepatic vein thrombosis and widening of an existing Wallstent TIPS by Palmaz stents for recurrent portal hypertension and variceal bleeding. (8781163)
1996
21
Budd-Chiari syndrome caused by hepatic vein thrombosis in a patient with myeloproliferative disorder. (8968799)
1996
22
Successful systemic thrombolysis of hepatic vein thrombosis in a patient with promyelocytic leukemia treated with all-trans retinoic acid. (7717385)
1995
23
Tissue plasminogen activator for hepatic vein thrombosis in paroxysmal nocturnal haemoglobinuria. (8283166)
1994
24
Thrombotic cutaneous nodules and hepatic vein thrombosis in the anticardiolipin syndrome. (2591097)
1989
25
Hepatic vein thrombosis (Budd-Chiari syndrome) in the microgranular variant of acute promyelocytic leukemia. (2773853)
1989
26
Recovery from hepatic vein thrombosis (Budd-Chiari syndrome) complicating ulcerative colitis. (3197587)
1988
27
Hepatic vein thrombosis in paroxysmal nocturnal hemoglobinuria. A spectrum from asymptomatic occlusion of hepatic venules to fatal Budd-Chiari syndrome. (3609666)
1987
28
Risk of hepatic vein thrombosis in relation to recent use of oral contraceptives. A case-control study. (3949113)
1986
29
Primary myeloproliferative disorder and hepatic vein thrombosis. A prospective study of erythroid colony formation in vitro in 20 patients with Budd-Chiari syndrome. (4026081)
1985
30
Ultrasonography: hepatic vein thrombosis in sickle cell anemia. (7114404)
1982
31
Oral contraceptives and hepatic vein thrombosis. (7205808)
1981
32
Veno-occlusive disease and primary hepatic vein thrombosis in Israeli Arabs. (7263190)
1981
33
Case report: hepatic vein thrombosis (acute Budd-Chiari syndrome) in acute leukemia. (6947690)
1981
34
"Dimple sign" in hepatic vein thrombosis. (465948)
1979
35
Acute hepatic vein thrombosis occurring during therapy for Hodgkin's disease: a case report. (509400)
1979
36
Activation of the Hageman factor-prekallikrein system in the pathogenesis of the generalized Shwartzman reaction and of the hepatic vein thrombosis phenomenon in the rat. (470342)
1979
37
Hepatic vein thrombosis: a case presentation and retrospective study. (225035)
1979
38
Inferior vena cava and hepatic vein thrombosis as a rare complication of ventriculoatrial shunt. Case report. (619017)
1978
39
Hepatic vein thrombosis in a woman taking oral contraceptives: a case report. (903688)
1977
40
Acute hepatic vein thrombosis in a patient with Behcet's disease. (829359)
1976
41
Hepatic vein thrombosis in Buffalo strain female rats ingesting dimethylnitrosamine. (1187201)
1975
42
Activation of Hageman factor and initiation of hepatic vein thrombosis in the hyperlipemic rat. (4843381)
1974
43
Hepatic vein thrombosis in children in the Near East. (5054003)
1972
44
Hepatic vein thrombosis (Budd-Chiari syndrome). (5445577)
1970
45
Hepatic vein thrombosis. Increased incidence in rats given methylcholanthrene and carbon tetrachloride. (5450122)
1970
46
Severe cirrhosis with hepatic vein thrombosis in rats given carbon tetrachloride and 3-methylcholanthrene. (5711263)
1968
47
Hepatic vein thrombosis complicating polycythemia vera. Successful treatment with a portacaval shunt. (6028691)
1967
48
MYOMA-ERYTHROCYTOSIS SYNDROME, PRESENTING WITH ACUTE HEPATIC VEIN THROMBOSIS. (14269124)
1965
49
Chiari's disease, hepatic-vein thrombosis. (14941265)
1952
50
Case report of stenosis of the vena cava with vena caval and hepatic vein thrombosis reto trauma. (14933990)
1952

Variations for Hepatic Vein Thrombosis

About this section

Expression for genes affiliated with Hepatic Vein Thrombosis

About this section
Expression patterns in normal tissues for genes affiliated with Hepatic Vein Thrombosis

Search GEO for disease gene expression data for Hepatic Vein Thrombosis.

Pathways for genes affiliated with Hepatic Vein Thrombosis

About this section

Pathways related to Hepatic Vein Thrombosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
9.4JAK2, SERPINE1
2
Show member pathways
9.2F5, PROS1
3
Show member pathways
8.7F5, PROS1, SERPINE1
4
Show member pathways
8.7F5, PROS1, SERPINE1
5
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
8.7F5, PROS1, SERPINE1
6
Show member pathways
8.2SERPINE1, JAK2, PROS1, F5

Compounds for genes affiliated with Hepatic Vein Thrombosis

About this section

Compounds related to Hepatic Vein Thrombosis according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1batroxobin449.9SERPINE1, F5
2ancrod449.9F5, SERPINE1
3tibolone449.9F5, SERPINE1
4cyproteroneacetate449.9F5, SERPINE1
5desmopressin44 61 28 1112.9F5, SERPINE1
6hirudin449.9F5, SERPINE1
7protamine449.9F5, SERPINE1
8mycophenolate mofetil44 50 1111.9SERPINE1, F5
9progestins449.9F5, JAK2
10raloxifene44 50 28 1112.9F5, SERPINE1
11dextran sulfate449.9JAK2, F5
12kininogen449.9F5, SERPINE1
13metformin44 50 1111.9SERPINE1, F5
14pge1449.8F5, SERPINE1
15aprotinin44 1110.8F5, SERPINE1
16uric acid44 2410.8F5, SERPINE1
17progestin449.8F5, SERPINE1
1815-deoxy-delta-12,14-prostaglandin j2449.8JAK2, SERPINE1
19ag 1478449.8JAK2, SERPINE1
20glucosylceramide44 2410.8PIGA, F5
21sodium dodecylsulfate449.8F5, SERPINE1
22homocysteine44 2410.7F5, SERPINE1
23sp 60012544 6110.7JAK2, SERPINE1
24atorvastatin44 50 28 24 1113.7F5, SERPINE1
25mannitol44 1110.7SERPINE1, JAK2
26gamma-carboxyglutamic acid449.6F5, PROS1
27rosiglitazone28 44 50 24 1113.6JAK2, SERPINE1
28simvastatin44 50 61 28 24 1114.5SERPINE1, F5
29tacrolimus44 50 1111.5F5, SERPINE1
30endotoxin449.4F5, JAK2, SERPINE1
31aspirin44 50 28 2412.4SERPINE1, JAK2, F5
32aspartate449.4SERPINE1, JAK2, F5
33cyclophosphamide44 50 1111.3PIGA, SERPINE1, F5
34nitric oxide44 24 1111.3SERPINE1, JAK2, F5
35dihydrotestosterone44 28 24 1112.2PROS1, SERPINE1
36nicotine44 28 50 1112.1JAK2, SERPINE1
37vitamin-e449.1F5, PROS1, JAK2
38estrogen449.1SERPINE1, JAK2, F5
39prostacyclin449.1F5, PROS1, SERPINE1
40phospholipid449.1JAK2, PROS1, F5
41retinoic acid44 2410.1F5, JAK2, SERPINE1
42creatinine449.1F5, PROS1, SERPINE1
43heparin44 28 24 1112.1F5, PROS1, SERPINE1
44testosterone44 61 24 1112.0F5, PROS1, SERPINE1
45steroid449.0JAK2, PROS1, F5
46dexamethasone44 50 28 1111.9SERPINE1, JAK2, PROS1
47cholesterol44 28 24 1111.6F5, PROS1, JAK2, SERPINE1
48vegf448.6F5, PROS1, JAK2, SERPINE1
49serine448.6SERPINE1, JAK2, PROS1, F5
50glucose448.5PROS1, JAK2, SERPINE1

GO Terms for genes affiliated with Hepatic Vein Thrombosis

About this section

Cellular components related to Hepatic Vein Thrombosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310938.7F5, PROS1, SERPINE1

Biological processes related to Hepatic Vein Thrombosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of inflammatory responseGO:0507299.3JAK2, SERPINE1
2fibrinolysisGO:0427309.1PROS1, SERPINE1
3post-translational protein modificationGO:0436879.0PROS1, PIGA
4negative regulation of endopeptidase activityGO:0109518.8PROS1, SERPINE1
5platelet degranulationGO:0025768.8F5, PROS1, SERPINE1
6platelet activationGO:0301688.7SERPINE1, PROS1, F5
7blood coagulationGO:0075968.3F5, PROS1, JAK2, SERPINE1

Products for genes affiliated with Hepatic Vein Thrombosis

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Hepatic Vein Thrombosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet