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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Budd-Chiari Syndrome:

Name: Budd-Chiari Syndrome 52 11 48 54 70 27 12 50 39 13 68
Hepatic Vein Thrombosis 11 13 68
Membranous Obstruction of the Inferior Vena Cava 48 70
Membranous Obstruction of Inferior Vena Cava 68
 
Chiari Syndrome 70
Bdchs 70
Movc 70

Characteristics:

Orphanet epidemiological data:

54
budd-chiari syndrome:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age

Classifications:

Orphanet: 54 
Rare hepatic diseases


External Ids:

OMIM52 600880
Disease Ontology11 DOID:11512
ICD1030 I82.0
MeSH39 D006502
Orphanet54 ORPHA131
SNOMED-CT62 195436007, 38739001
MESH via Orphanet40 D006502
UMLS via Orphanet69 C0856761
ICD10 via Orphanet31 I82.0

Summaries for Budd-Chiari Syndrome

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NIH Rare Diseases:48 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:70 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:71 Budd–Chiari syndrome is a very rare condition, affecting 1 in a million adults. The condition is... more...

Description from OMIM:52 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 & Phenotypes 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:

 64 54 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 portal hypertension64 54 hallmark (90%) Very frequent (99-80%) HP:0001409
2 ascites64 54 hallmark (90%) Very frequent (99-80%) HP:0001541
3 splenomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0001744
4 cirrhosis64 54 typical (50%) Frequent (79-30%) HP:0001394
5 abdominal pain64 54 typical (50%) Frequent (79-30%) HP:0002027
6 esophageal varix64 54 typical (50%) Frequent (79-30%) HP:0002040
7 hepatomegaly64 54 typical (50%) Frequent (79-30%) HP:0002240
8 elevated hepatic transaminases64 54 typical (50%) Frequent (79-30%) HP:0002910
9 abnormality of temperature regulation64 typical (50%) HP:0004370
10 biliary tract abnormality64 occasional (7.5%) HP:0001080
11 weight loss64 54 occasional (7.5%) Occasional (29-5%) HP:0001824
12 malabsorption64 54 occasional (7.5%) Occasional (29-5%) HP:0002024
13 gastrointestinal hemorrhage64 54 occasional (7.5%) Occasional (29-5%) HP:0002239
14 peritonitis64 54 occasional (7.5%) Occasional (29-5%) HP:0002586
15 intestinal obstruction64 54 occasional (7.5%) Occasional (29-5%) HP:0005214
16 gastrointestinal infarctions64 54 occasional (7.5%) Occasional (29-5%) HP:0005244
17 acute hepatic failure64 54 occasional (7.5%) Occasional (29-5%) HP:0006554
18 hepatocellular carcinoma64 HP:0001402
19 budd-chiari syndrome64 HP:0002639
20 jaundice54 Occasional (29-5%)
21 cholecystitis54 Occasional (29-5%)
22 fever54 Frequent (79-30%)

UMLS symptoms related to Budd-Chiari Syndrome:


hepatomegaly

MGI Mouse Phenotypes related to Budd-Chiari Syndrome according to GeneCards Suite gene sharing:

41
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

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

Search NIH Clinical Center for Budd-Chiari Syndrome


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 Syndrome27

Anatomical Context for Budd-Chiari Syndrome

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MalaCards organs/tissues related to Budd-Chiari Syndrome:

36
Liver, Heart, Skin, Spleen, Endothelial, Kidney, Neutrophil

Publications for Budd-Chiari Syndrome

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Articles related to Budd-Chiari Syndrome:

(show top 50)    (show all 307)
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
Fatal outcome of haemodialysis catheter malposition into the hepatic vein causing Budd-Chiari Syndrome. (28058703)
2017
4
Non-contrast-enhanced MR angiography in the diagnosis of Budd-Chiari syndrome (BCS) compared with digital subtraction angiography (DSA): Preliminary results. (27742430)
2017
5
Living donor liver transplantation for Budd-Chiari syndrome: Overcoming a troublesome situation. (27787368)
2016
6
CALR mutations in Chinese Budd-Chiari syndrome patients. (26825145)
2016
7
Outcome of the Z-expandable metallic stent for Budd-Chiari syndrome and segmental obstruction of the inferior vena cava. (27172449)
2016
8
Hepatocellular Carcinoma With Budd-Chiari Syndrome and Obstructive Jaundice: A Therapeutic Challenge. (27661754)
2016
9
Number and function of circulating endothelial progenitor cells in patients with primary Budd-Chiari syndrome. (27863925)
2016
10
Increased prevalence of heparin-induced thrombocytopenia in patients with Budd-Chiari syndrome: a retrospective analysis. (27015137)
2016
11
Combined hepatocellular-cholangiocarcinoma with stem cell features, cholangiolocellular subtype after inferior vena cava stent placement for a patient with Budd-Chiari syndrome. (27900203)
2016
12
Review article: the aetiology of primary Budd-Chiari syndrome - differences between the West and China. (27734511)
2016
13
A Rare Complication of Liver Hydatid Cyst Surgery: Budd-Chiari Syndrome. (27689187)
2016
14
Budd-Chiari Syndrome Causing Acute Liver Failure: A Multicenter Case Series. (27656864)
2016
15
Budd-Chiari syndrome: current perspectives and controversies. (27467004)
2016
16
Granulocyte whole exome sequencing and endothelial JAK2V617F in patients with JAK2V617F positive Budd-Chiari Syndrome without myeloproliferative neoplasm. (27650062)
2016
17
Budd-Chiari syndrome associated with coeliac disease: case report and literature review. (27604577)
2016
18
Hepatocelular carcinoma in a patient with Budd-Chiari syndrome caused by an inferior vena cava membrane. Possibility of resection after angio-radiological treatment of Budd-Chiari syndrome. (27436426)
2016
19
Comparison of 3.0T MRI with 3D LAVA sequence and digital subtraction angiography for the assessment of accessory hepatic veins in Budd-Chiari syndrome. (27388772)
2016
20
Ruptured Hepatocellular Carcinoma in a Child with Budd-Chiari Syndrome. (27771654)
2016
21
Fulminant Budd-Chiari syndrome due to ecstasy. (27459877)
2016
22
Comparison of Long-Term Outcomes of Endovascular Management for Membranous and Segmental Inferior Vena Cava Obstruction in Patients With Primary Budd-Chiari Syndrome. (26908849)
2016
23
Risk factors for and causes and treatment of recurrence of inferior vena cava type of Budd-Chiari syndrome after stenting in China: A retrospective analysis of a large cohort. (27387875)
2016
24
Characteristics of hepatocellular carcinoma in Egyptian patients with primary Budd-Chiari syndrome. (27507647)
2016
25
Budd-Chiari Syndrome in Young Chinese: Clinical Characteristics, Etiology and Outcome of Recanalization from a Single Center. (26811088)
2016
26
Endovascular treatment of Budd-Chiari syndrome: single centre experience. (27218672)
2016
27
Intraoperative Transesophageal Echocardiographic Diagnosis of Acute Budd-Chiari Syndrome After Extended Right Hepatectomy. (27166743)
2016
28
Limits of Evidence Based Medicine for rare diseases: The case of Budd-Chiari syndrome. (27005858)
2016
29
Liver and Vena Cava En Bloc Resection for an Invasive Leiomyosarcoma Causing Budd-Chiari Syndrome, Under Veno-Venous Bypass and Liver Hypothermic Perfusion : Liver Hypothermic Perfusion and Veno-Venous Bypass for Inferior Vena Cava Leiomyosarcoma. (27431416)
2016
30
Direct intrahepatic portocaval shunt for treatment of portal thrombosis and Budd-Chiari syndrome. (26626649)
2016
31
Long-term clinical outcome of Budd-Chiari syndrome in children after radiological intervention. (26904975)
2016
32
How should I treat Budd-Chiari syndrome after liver transplantation with inferior vena cava occlusion? (27173874)
2016
33
Subcapsular and intra-hepatic collaterals in a patient with compensated Budd-Chiari syndrome. (26748424)
2016
34
Leg Ulcer in Budd-Chiari syndrome. (26785653)
2016
35
Budd chiari syndrome. (27728260)
2016
36
Budd- Chiari Syndrome as an Initial Manifestation of Systemic Lupus Erythematosus. (27190864)
2016
37
Myxoma Immediately above the Junction of the Inferior Vena Cava and the Right Atrium: A Rare Cause of Budd-Chiari Syndrome. (27956913)
2016
38
Accuracy of CTA in the diagnosis of patients with inferior vena cava partial obstruction in Budd-Chiari Syndrome. (27118067)
2016
39
Hybrid Treatment for Budd-Chiari Syndrome: A Case Report by 11-Year Follow-up. (27554698)
2016
40
Budd-Chiari Syndrome in a Patient with Hepatitis C. (27525135)
2016
41
Transjugular intrahepatic portosystemic shunt for Budd-Chiari syndrome with diffuse occlusion of hepatic veins. (27805025)
2016
42
Collteral loop approach from left to right liver lobe: Endovascular recanalization of a hepatic vein in Budd-Chiari syndrome. (27819016)
2016
43
Endovascular Management of Budd-Chiari Syndrome with Inferior Vena Cava Thrombosis: A 14-Year Single-Center Retrospective Report of 55 Patients. (27397618)
2016
44
Endovascular treatment of symptomatic Budd-Chiari syndrome - in favour of early transjugular intrahepatic portosystemic shunt. (26958788)
2016
45
Diagnosis, management, and long-term issues in pediatric Budd-Chiari syndrome. (27465349)
2016
46
Watch Your Speed-A Traumatic Case of Budd-Chiari Syndrome. (27356839)
2016
47
Positive Impact of Eculizumab Therapy on Surgery for Budd-Chiari Syndrome in a Patient with Paroxysmal Nocturnal Hemoglobinuria and a Long-Term History of Thrombosis. (27757214)
2016
48
The Long-Term Outcomes for Patients with Budd-Chiari Syndrome Caused by Behcet's Disease: A Case Series on the Results, from Cirrhosis to Death. (27882061)
2016
49
Budd-Chiari syndrome: an update on imaging features. (27317208)
2016
50
Successful Treatment of Ascites using a Denver(Ar) Peritoneovenous Shunt in a Patient with Paroxysmal Nocturnal Hemoglobinuria and Budd-Chiari syndrome. (27746432)
2016

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:00057889.8CALR, F2, F5, F7
2extracellular matrixGO:00310129.3APOH, CALR, F2, F3, VIM
3extracellular regionGO:00055769.2APOH, CALR, F2, F5, F7, SERPINC1
4extracellular spaceGO:00056158.3APOH, 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:000759710.5APOH, F2
2negative regulation of fibrinolysisGO:005191810.5APOH, F2
3regulation of blood coagulationGO:003019310.4APOH, F2
4peptidyl-glutamic acid carboxylationGO:001718710.3F2, F7
5blood coagulation, extrinsic pathwayGO:000759810.2F3, F7
6positive regulation of platelet-derived growth factor receptor signaling pathwayGO:001064110.1F3, F7
7positive regulation of positive chemotaxisGO:005092710.1F3, F7
8negative regulation of platelet activationGO:001054410.0F2, PDGFRA
9positive regulation of blood coagulationGO:003019410.0APOH, F2, F7
10cell activationGO:000177510.0CD59, PDGFRA
11ER to Golgi vesicle-mediated transportGO:00068889.7CD59, F2, F5, F7
12signal peptide processingGO:00064659.6F2, F7
13positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.6F2, JAK2, PDGFRA
14response to estradiolGO:00323559.5CALR, F3, F7
15positive regulation of cell proliferationGO:00082849.2CALR, F2, JAK2, PDGFRA
16positive regulation of cell migrationGO:00303359.1F3, F7, JAK2, PDGFRA
17blood coagulationGO:00075968.7CD59, F2, F3, F5, F7, JAK2

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

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:00019489.3APOH, CALR, F7, VIM
2serine-type endopeptidase activityGO:00042528.9F2, F3, F5, F7

Sources for Budd-Chiari Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet