MCID: BDD001
MIFTS: 56

Budd-Chiari Syndrome malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Liver diseases, Gastrointestinal diseases, Blood diseases

Aliases & Classifications for Budd-Chiari Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Budd-Chiari Syndrome:

Name: Budd-Chiari Syndrome 51 11 47 53 69 26 12 49 38 13 67
Hepatic Vein Thrombosis 11 13 67
Membranous Obstruction of the Inferior Vena Cava 47 69
Membranous Obstruction of Inferior Vena Cava 67
 
Chiari Syndrome 69
Bdchs 69
Movc 69

Characteristics:

Orphanet epidemiological data:

53
budd-chiari syndrome:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age

Classifications:

Orphanet: 53 
Rare hepatic diseases


External Ids:

OMIM51 600880
Disease Ontology11 DOID:11512
ICD1029 I82.0
MeSH38 D006502
Orphanet53 ORPHA131
SNOMED-CT61 195436007, 38739001
MESH via Orphanet39 D006502
UMLS via Orphanet68 C0856761
ICD10 via Orphanet30 I82.0

Summaries for Budd-Chiari Syndrome

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NIH Rare Diseases:47 Budd-Chiari syndrome is a rare disorder characterized by obstruction of the veins of the liver that carry the blood flow from the liver. When the blood flow out of the liver is impeded, blood backs up in the liver, causing it to enlarge (hepatomegaly). The spleen may also enlarge (splenomegaly). This backup of blood increases blood pressure in the portal vein, which carries blood to the liver from the intestines (portal hypertension), and result in  dilated, twisted veins in the esophagus (esophageal varices). Portal hypertension, leads to fluid accumulating in the abdomen (called ascites). The clot may extend to also block the inferior vena cava (the large vein that carries blood from the lower parts of the body to the heart). Varicose veins in the abdomen near the skin’s surface may develop and become visible. In some cases,  scarring of the liver (cirrhosis) occurs. Other symptoms may include fatigue, abdominal pain, nausea, jaundice and bleeding in the esophagus. The severity of the disorder varies from case to case, depending on the site and number of affected veins. It most often occurs in patients which have a disorder that makes blood more likely to clot, such as those who are pregnant or who have a tumor, a chronic inflammatory disease, a clotting disorder, an infection, or a myeloproliferative disorder. In about one third of the cases, the cause of Budd-Chiari syndrome is unknown. Drugs or surgical interventions may be used to dissolve or decrease the size of the obstruction (if it is a clot). In some cases liver transplantation is needed.  Budd-Chiari syndrome should be considered separate from veno-occlusive disease (VOD). Last updated: 5/2/2016

MalaCards based summary: Budd-Chiari Syndrome, also known as hepatic vein thrombosis, is related to visceral leishmaniasis and thrombophilia, and has symptoms including portal hypertension, ascites and splenomegaly. An important gene associated with Budd-Chiari Syndrome is F5 (Coagulation Factor V), and among its related pathways are Warfarin Pathway, Pharmacodynamics and Collagen biosynthesis and modifying enzymes. Affiliated tissues include liver, heart and skin, and related mouse phenotypes are embryo and nervous system.

UniProtKB/Swiss-Prot:69 Budd-Chiari syndrome: A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera.

Wikipedia:70 Budd–Chiari syndrome is a very rare condition, affecting 1 in a million adults. The condition is... more...

Description from OMIM:51 600880

Related Diseases for Budd-Chiari Syndrome

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Diseases in the Budd-Chiari Syndrome family:

F5-Related Budd-Chiari Syndrome Jak2-Related Budd-Chiari Syndrome

Diseases related to Budd-Chiari Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 226)
idRelated DiseaseScoreTop Affiliating Genes
1visceral leishmaniasis30.2F2, VIM
2thrombophilia29.8APOH, F2, F5, MTHFR, SERPINC1
3systemic lupus erythematosus29.4APOH, CALR, F2, F3
4budd-chiari syndrome, somatic12.1
5f5-related budd-chiari syndrome12.1
6jak2-related budd-chiari syndrome12.1
7coenzyme q cytochrome c reductase deficiency of10.6APOH, F5
8hepatitis10.6
9onychocytic matricoma10.6APOH, F5
10michels caskey syndrome10.6F5, MTHFR
11congenital stenosis of the inferior vena cava10.6F5, MTHFR
12bartholin's gland adenoma10.6F2, F5
13ameloblastic carcinoma10.6F5, MTHFR
14rasa1-related disorders10.6F2, MTHFR
15cholesterol embolism10.6APOH, F2
16tympanosclerosis10.6F2, F5
17myelofibrosis with myeloid metaplasia, somatic10.5CALR, JAK2
18portal vein thrombosis10.5
19milk allergy10.5F2, SERPINC1
20spleen cancer10.5F2, SERPINC1
21west nile fever10.5F2, F5
22hypertrophic pyloric stenosis10.5CD59, F2
23paroxysmal nocturnal hemoglobinuria10.5
24hemoglobinuria10.5
25posterolateral myocardial infarction10.5F2, SERPINC1
26familial glomangioma10.5F2, F3
27acquired fructose intolerance10.5F3, F5
28basilar artery insufficiency10.5CALR, JAK2
29cerebral angioma10.4F2, F3
30dislocation of ear ossicle10.4F2, F3
31von willibrand disease, type 310.4F2, F3
32epididymo-orchitis10.4F2, F3
33chorea gravidarum10.4F2, F3
34acute zonal occult outer retinopathy10.4F2, F5, MTHFR
35congenital nystagmus10.4F2, F3
36peroneal neuropathy10.4F2, F3
37cavernous sinus thrombosis10.4F3, SERPINC1
38homocystinuria due to defect in methylation cbl g10.4F2, F5, MTHFR
39primary pigmented nodular adrenocortical disease10.4F2, F5, MTHFR
40hepatocellular adenoma10.4F2, F5, MTHFR
41pregnancy loss, recurrent 110.4APOH, F5, MTHFR
42spastic paraplegia 3a10.4F2, F5, MTHFR
43splenic infarction10.4F2, F3
44elejalde disease10.4APOH, F2, MTHFR
45wfs1-related disorders10.4F2, F3
46charcot-marie-tooth disease10.4F2, F5, MTHFR
47polycythemia10.4
48childhood central nervous system germinoma10.3APOH, F5
49complex regional pain syndrome10.3APOH, MTHFR
50intestinal obstruction10.3CALR, F5, JAK2

Graphical network of the top 20 diseases related to Budd-Chiari Syndrome:



Diseases related to budd-chiari syndrome

Symptoms for Budd-Chiari Syndrome

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Symptoms by clinical synopsis from OMIM:

600880

Clinical features from OMIM:

600880

Human phenotypes related to Budd-Chiari Syndrome:

 63 53 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 portal hypertension63 53 hallmark (90%) Very frequent (99-80%) HP:0001409
2 ascites63 53 hallmark (90%) Very frequent (99-80%) HP:0001541
3 splenomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0001744
4 cirrhosis63 53 typical (50%) Frequent (79-30%) HP:0001394
5 abdominal pain63 53 typical (50%) Frequent (79-30%) HP:0002027
6 esophageal varix63 53 typical (50%) Frequent (79-30%) HP:0002040
7 hepatomegaly63 53 typical (50%) Frequent (79-30%) HP:0002240
8 elevated hepatic transaminases63 53 typical (50%) Frequent (79-30%) HP:0002910
9 abnormality of temperature regulation63 typical (50%) HP:0004370
10 biliary tract abnormality63 occasional (7.5%) HP:0001080
11 weight loss63 53 occasional (7.5%) Occasional (29-5%) HP:0001824
12 malabsorption63 53 occasional (7.5%) Occasional (29-5%) HP:0002024
13 gastrointestinal hemorrhage63 53 occasional (7.5%) Occasional (29-5%) HP:0002239
14 peritonitis63 53 occasional (7.5%) Occasional (29-5%) HP:0002586
15 intestinal obstruction63 53 occasional (7.5%) Occasional (29-5%) HP:0005214
16 gastrointestinal infarctions63 53 occasional (7.5%) Occasional (29-5%) HP:0005244
17 acute hepatic failure63 53 occasional (7.5%) Occasional (29-5%) HP:0006554
18 hepatocellular carcinoma63 HP:0001402
19 budd-chiari syndrome63 HP:0002639
20 jaundice53 Occasional (29-5%)
21 cholecystitis53 Occasional (29-5%)
22 fever53 Frequent (79-30%)

UMLS symptoms related to Budd-Chiari Syndrome:


hepatomegaly

Drugs & Therapeutics for Budd-Chiari Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Budd-Chiari Syndrome in China: Balloon Angioplasty Alone or Combined With Stent Placement?RecruitingNCT02201485
2Portal Vein Thrombosis in CirrhosisNot yet recruitingNCT02275585

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Cochrane evidence based reviews: budd-chiari syndrome

Genetic Tests for Budd-Chiari Syndrome

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Genetic tests related to Budd-Chiari Syndrome:

id Genetic test Affiliating Genes
1 Budd-Chiari Syndrome26

Anatomical Context for Budd-Chiari Syndrome

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MalaCards organs/tissues related to Budd-Chiari Syndrome:

35
Liver, Heart, Skin, Spleen, Endothelial, Kidney, Neutrophil

Animal Models for Budd-Chiari Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Budd-Chiari Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.0CALR, F2, F3, F5, JAK2, PDGFRA
2MP:00036317.8CALR, F2, F3, F5, MTHFR, PDGFRA
3MP:00053857.7CALR, F2, F3, F5, F7, PDGFRA
4MP:00053897.5CD59, F2, JAK2, MTHFR, PDGFRA, SERPINC1
5MP:00053766.4APOH, CALR, CD59, F2, F3, F5
6MP:00107686.4APOH, CALR, CD59, F2, F3, F5

Publications for Budd-Chiari Syndrome

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Articles related to Budd-Chiari Syndrome:

(show top 50)    (show all 308)
idTitleAuthorsYear
1
Budd-chiari syndrome and acute liver failure: A complex condition requiring a rapid response. (28006871)
2017
2
Good outcome following liver transplantation using pericardial-peritoneum window for hepato-atrial anastomosis to overcome advanced hepatic alveolar echinococcosis and secondary Budd-Chiari Syndrome - a case report. (28086841)
2017
3
Living donor liver transplantation for Budd-Chiari syndrome: Overcoming a troublesome situation. (27787368)
2016
4
CALR mutations in Chinese Budd-Chiari syndrome patients. (26825145)
2016
5
Outcome of the Z-expandable metallic stent for Budd-Chiari syndrome and segmental obstruction of the inferior vena cava. (27172449)
2016
6
Hepatocellular Carcinoma With Budd-Chiari Syndrome and Obstructive Jaundice: A Therapeutic Challenge. (27661754)
2016
7
Number and function of circulating endothelial progenitor cells in patients with primary Budd-Chiari syndrome. (27863925)
2016
8
Liver Transplantation for Budd-Chiari Syndrome With Large Solitary Focal Nodular Hyperplasia of the Liver in a Patient With Essential Thrombocytemia: Case Report. (26361700)
2015
9
Budd-Chiari syndrome. (26668741)
2015
10
Imbalance of Pro- vs. Anti-Coagulation Factors in Chinese Patients with Budd-Chiari Syndrome and Non-Cirrhotic Portal Vein Thrombosis. (25823002)
2015
11
Incidence, Prevalence, and Complications of Budd-Chiari Syndrome in South Korea: A Nationwide, Population-Based Study. (26558363)
2015
12
Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China. (26557140)
2015
13
Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis. (25698270)
2015
14
Percutaneous endovascular creation of an inferior vena cava in a patient with caval agenesis, budd-Chiari syndrome, and iliofemorocaval thrombosis. (24365505)
2014
15
A case of Budd-Chiari syndrome associated with alveolar echinococcosis. (24039293)
2013
16
Treatment of a patient with classical paroxysmal nocturnal hemoglobinuria and Budd-Chiari syndrome, with complement inhibitor eculizumab: Case Report. (23935352)
2013
17
Evaluation of portal vein thrombosis in liver graft ten years after liver transplantation due to budd-Chiari syndrome using Doppler ultrasound. (23322979)
2012
18
Essential thrombocytosis and antiphospholipid antibody syndrome causing chronic Budd-Chiari syndrome. (21830019)
2012
19
Ph-negative chronic myeloproliferative neoplasm (primary myelofibrosis) - as one of the reasons of the budd-Chiari syndrome. (22811796)
2012
20
Budd-Chiari syndrome in a patient of diabetic ketoacidosis. (22701830)
2012
21
Tamoxifen-associated Budd-Chiari syndrome complicated by heparin-induced thrombocytopenia and thrombosis: a case report and literature review. (23213131)
2012
22
Prevalence of the JAK2V617F mutation in Chinese patients with Budd-Chiari syndrome and portal vein thrombosis: a prospective study. (22142461)
2012
23
Japanese case of Budd-Chiari syndrome due to hepatic vein thrombosis successfully treated with liver transplantation. (22248193)
2012
24
Acute Budd-Chiari syndrome in pediatric acute promyelocytic leukemia. (21649539)
2011
25
Portal vein thrombosis and budd-Chiari syndrome. (22054734)
2011
26
Serial monitoring of B-type natriuretic Peptide in management of heart failure after liver transplantation in a patient with Budd-Chiari syndrome: case report. (20832589)
2010
27
Late onset ulcerative colitis complicating a patient with Budd-Chiari syndrome: a case report and review of the literature. (19060635)
2009
28
Distant skeletal muscle metastasis from intrahepatic cholangiocarcinoma presenting as Budd-Chiari syndrome. (17589935)
2007
29
Case 15-2006: the Budd-Chiari syndrome and V617F mutation in JAK2. (16921592)
2006
30
Transjugular Intrahepatic Portosystemic Shunt (TIPS), the preferred therapeutic option for Budd Chiari syndrome associated with portal vein thrombosis. (16968512)
2006
31
Case 15-2006: the Budd-Chiari syndrome and V617F mutation in JAK2. (16921591)
2006
32
Budd-Chiari syndrome as the first manifestation of polycythemia vera in young women with inherited thrombophilic state: an aggressive form of myeloproliferative disorder requiring multidisciplinary management. (16191089)
2005
33
Determinants of survival and the effect of portosystemic shunting in patients with Budd-Chiari syndrome. (14768004)
2004
34
Liver transplantation in a patient with Budd-Chiari syndrome secondary to factor V Leiden mutation. (14697963)
2003
35
Recurrence of Budd-Chiari syndrome after liver transplantation in paroxysmal nocturnal hemoglobinuria. (14652717)
2003
36
Multiple thrombophilic factors in a patient with Budd-Chiari syndrome. (11843901)
2002
37
Budd-Chiari syndrome and extrahepatic portal obstruction associated with congenital antithrombin III deficiency. (11388398)
2001
38
Activated protein C resistance in Budd-Chiari syndrome. (11039679)
2000
39
Nodular regenerative hyperplasia of the liver in Budd-Chiari syndrome: CT and MR features. (10823445)
2000
40
Flow cytometric analysis of autonomous growth of erythroid precursors in liquid culture detects occult polycythemia vera in the Budd-Chiari syndrome. (10782905)
2000
41
Budd-Chiari syndrome related to factor V Leiden mutation. (9576466)
1998
42
A case of Budd Chiari syndrome with protein C deficiency. (9128829)
1997
43
Alveolar echinococcosis of the liver: percutaneous stent therapy in Budd-Chiari syndrome. (9026484)
1996
44
A case of Budd-Chiari syndrome with high antiphospholipid antibody in a patient with systemic lupus erythematosus. (8882480)
1996
45
Budd-Chiari syndrome and factor V Leiden mutation. (7861905)
1995
46
Liver transplantation for Budd-Chiari syndrome--palliation or cure? (7513998)
1994
47
Acute Budd-Chiari syndrome with hepatic failure and obstruction of the inferior vena cava as presenting manifestations of hereditary protein C deficiency. (2387522)
1990
48
Hepatic vein thrombosis in paroxysmal nocturnal hemoglobinuria. A spectrum from asymptomatic occlusion of hepatic venules to fatal Budd-Chiari syndrome. (3609666)
1987
49
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
50
Hepatic vein thrombosis (Budd-Chiari syndrome). (5445577)
1970

Variations for Budd-Chiari Syndrome

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Clinvar genetic disease variations for Budd-Chiari Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1JAK2NM_004972.3(JAK2): c.1849G> T (p.Val617Phe)SNVPathogenic, risk factorrs77375493GRCh37Chr 9, 5073770: 5073770
2F5NM_000130.4(F5): c.1601G> A (p.Arg534Gln)SNVPathogenic, risk factorrs6025GRCh37Chr 1, 169519049: 169519049

Expression for genes affiliated with Budd-Chiari Syndrome

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Search GEO for disease gene expression data for Budd-Chiari Syndrome.

Pathways for genes affiliated with Budd-Chiari Syndrome

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GO Terms for genes affiliated with Budd-Chiari Syndrome

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Cellular components related to Budd-Chiari Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.4CALR, F2, F5, F7
2extracellular matrixGO:00310128.8APOH, CALR, F2, F3, VIM
3extracellular regionGO:00055768.5APOH, CALR, F2, F5, F7, SERPINC1
4extracellular spaceGO:00056157.6APOH, CALR, CD59, F2, F3, F5
5plasma membraneGO:00058866.6APOH, CD59, F2, F3, F5, F7

Biological processes related to Budd-Chiari Syndrome according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:000759710.4APOH, F2
2regulation of blood coagulationGO:003019310.4APOH, F2
3negative regulation of fibrinolysisGO:005191810.3APOH, F2
4peptidyl-glutamic acid carboxylationGO:001718710.2F2, F7
5positive regulation of platelet-derived growth factor receptor signaling pathwayGO:001064110.2F3, F7
6signal peptide processingGO:000646510.1F2, F7
7blood coagulation, extrinsic pathwayGO:000759810.1F3, F7
8positive regulation of positive chemotaxisGO:005092710.1F3, F7
9negative regulation of platelet activationGO:00105449.9F2, PDGFRA
10cell activationGO:00017759.8CD59, PDGFRA
11positive regulation of blood coagulationGO:00301949.5APOH, F2, F7
12positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.4F2, JAK2, PDGFRA
13ER to Golgi vesicle-mediated transportGO:00068889.3CD59, F2, F5, F7
14response to estradiolGO:00323559.1CALR, F3, F7
15positive regulation of cell proliferationGO:00082848.6CALR, F2, JAK2, PDGFRA
16blood coagulationGO:00075968.1CD59, F2, F3, F5, F7, JAK2
17positive regulation of cell migrationGO:00303358.1F3, F7, JAK2, PDGFRA

Molecular functions related to Budd-Chiari Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042528.9F2, F3, F5, F7
2glycoprotein bindingGO:00019488.4APOH, CALR, F7, VIM

Sources for Budd-Chiari Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet