BDCHS
MCID: BDD001
MIFTS: 62

Budd-Chiari Syndrome (BDCHS)

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

Aliases & Classifications for Budd-Chiari Syndrome

MalaCards integrated aliases for Budd-Chiari Syndrome:

Name: Budd-Chiari Syndrome 57 12 75 53 59 74 37 29 13 55 6 44 15 40 72 33
Hepatic Vein Thrombosis 12 17 72
Membranous Obstruction of the Inferior Vena Cava 53 74
Bdchs 57 74
Budd-Chiari Syndrome, Susceptibility to, Somatic 6
Membranous Obstruction of Inferior Vena Cava 72
Budd-Chiari Syndrome, Susceptibility to 6
Budd-Chiari Syndrome, Somatic 57
Chiari Syndrome 74
Movc 74

Characteristics:

Orphanet epidemiological data:

59
budd-chiari syndrome
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
? autosomal recessive


HPO:

32
budd-chiari syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:11512
OMIM 57 600880
KEGG 37 H01433
MeSH 44 D006502
SNOMED-CT 68 38739001
ICD10 33 I82.0
MESH via Orphanet 45 D006502
ICD10 via Orphanet 34 I82.0
UMLS via Orphanet 73 C0019154 C0856761
Orphanet 59 ORPHA131
UMLS 72 C0019154 C0546323 C0856761

Summaries for Budd-Chiari Syndrome

NIH Rare Diseases : 53 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).

MalaCards based summary : Budd-Chiari Syndrome, also known as hepatic vein thrombosis, is related to polycythemia and esophageal varix. An important gene associated with Budd-Chiari Syndrome is JAK2 (Janus Kinase 2), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Ethiodized oil and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and spleen, and related phenotypes are splenomegaly and portal hypertension

KEGG : 37
Budd-Chiari syndrome is a heterogeneous group of disorders characterized by hepatic venous outflow obstruction at the hepatic veins or inferior vena cava. Clinically, the disease is characterized by hepatomegaly, manifestations of portal hypertension, and sometimes rapidly deteriorating liver function. Factors that confer a predisposition to the development of the Budd-Chiari syndrome, including hypercoagulable states, both hereditary and acquired, and a variety of other causes, can be identified in about 75 percent of patients. The factor V Leiden mutation and V617F mutation in the JAK2 gene have been noted in patients with the Budd-Chiari syndrome.

UniProtKB/Swiss-Prot : 74 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 : 75 Budd-Chiari syndrome is a very rare condition, affecting one in a million adults. The condition is... more...

More information from OMIM: 600880

Related Diseases for Budd-Chiari Syndrome

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

(show top 50) (show all 472)
# Related Disease Score Top Affiliating Genes
1 polycythemia 32.1 JAK2 F5 CALR
2 esophageal varix 31.8 SERPINC1 F2
3 varicose veins 31.6 SERPINC1 MTHFR F5 F2
4 heparin-induced thrombocytopenia 31.4 SERPINC1 F3
5 protein c deficiency 31.3 SERPINC1 MTHFR F5 F2
6 polycythemia vera 31.3 PDGFRA JAK2 F5 CALR
7 thrombocythemia 3 31.3 JAK2 INSL6
8 pregnancy loss, recurrent 1 31.2 F5 APOH
9 essential thrombocythemia 31.0 JAK2 F3 F2 CALR
10 thrombocytosis 31.0 SERPINC1 JAK2 F3 F2
11 hypersplenism 30.9 SERPINC1 F2
12 endocarditis 30.8 SERPINC1 F2 APOH
13 eclampsia 30.8 SERPINC1 MTHFR F2
14 severe pre-eclampsia 30.8 SERPINC1 F5 APOH
15 homocysteinemia 30.7 SERPINC1 MTHFR F5 F2
16 cryptogenic cirrhosis 30.7 MTHFR F5 F2
17 antithrombin iii deficiency 30.6 SERPINC1 MTHFR F5 F2 APOH
18 behcet syndrome 30.6 SERPINC1 JAK2 F5 APOH
19 myeloproliferative neoplasm 30.6 PDGFRA JAK2 FIP1L1 CALR
20 thrombophilia due to thrombin defect 30.5 SERPINC1 MTHFR F5 F3 F2 APOH
21 antiphospholipid syndrome 30.4 SERPINC1 MTHFR F5 F3 F2 APOH
22 thrombophilia 30.4 SERPINC1 MTHFR F5 F3 F2 APOH
23 thrombophlebitis 30.4 SERPINC1 MTHFR F5 F2 APOH
24 giant hemangioma 30.4 SERPINC1 F3 F2
25 dysfibrinogenemia 30.3 SERPINC1 F5 F2
26 pulmonary embolism 30.3 SERPINC1 MTHFR F5 F3 F2 APOH
27 ischemic colitis 30.3 SERPINC1 F5 F2 APOH
28 chronic eosinophilic leukemia 30.2 PDGFRA FIP1L1
29 catastrophic antiphospholipid syndrome 30.2 MTHFR F5 F3 APOH
30 purpura 30.2 SERPINC1 F3 F2 APOH
31 endomyocardial fibrosis 30.1 PDGFRA FIP1L1
32 portal vein thrombosis 30.1 SERPINC1 MTHFR JAK2 F7 F5 F2
33 sagittal sinus thrombosis 30.1 SERPINC1 F5 F3 F2
34 disseminated intravascular coagulation 30.0 SERPINC1 F7 F5 F3 F2
35 protein s deficiency 30.0 SERPINC1 MTHFR F5 F3 F2 APOH
36 thrombophilia due to activated protein c resistance 30.0 SERPINC1 MTHFR F5 F3 F2 APOH
37 vascular disease 29.9 SERPINC1 MTHFR F5 F3 F2 APOH
38 patent foramen ovale 29.8 SERPINC1 MTHFR F5 F2 APOH
39 pre-eclampsia 29.6 SERPINC1 MTHFR F5 F3 F2 APOH
40 vein disease 29.6 SERPINC1 MTHFR F5 F3 F2
41 hepatic infarction 29.5 SERPINC1 MTHFR F3 F2 APOH
42 thrombosis 29.5 SERPINC1 MTHFR JAK2 F7 F5 F3
43 hellp syndrome 29.4 SERPINC1 MTHFR F5 F3 F2 APOH
44 lemierre's syndrome 29.4 MTHFR F3
45 intracranial hypertension 29.2 SERPINC1 MTHFR F5 F3 F2 APOH
46 stroke, ischemic 28.9 SERPINC1 MTHFR F7 F5 F3 F2
47 hepatic veno-occlusive disease 12.0
48 congenital disorder of glycosylation, type ik 11.6
49 chiari malformation 11.5
50 portal hypertension 11.1

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



Diseases related to Budd-Chiari Syndrome

Symptoms & Phenotypes for Budd-Chiari Syndrome

Human phenotypes related to Budd-Chiari Syndrome:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
2 portal hypertension 59 32 hallmark (90%) Very frequent (99-80%) HP:0001409
3 ascites 59 32 hallmark (90%) Very frequent (99-80%) HP:0001541
4 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
5 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
6 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
7 cirrhosis 59 32 frequent (33%) Frequent (79-30%) HP:0001394
8 elevated hepatic transaminase 59 32 frequent (33%) Frequent (79-30%) HP:0002910
9 esophageal varix 59 32 frequent (33%) Frequent (79-30%) HP:0002040
10 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
11 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
12 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
13 jaundice 59 32 occasional (7.5%) Occasional (29-5%) HP:0000952
14 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
15 acute hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0006554
16 cholecystitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001082
17 gastrointestinal infarctions 59 32 occasional (7.5%) Occasional (29-5%) HP:0005244
18 peritonitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002586
19 hepatocellular carcinoma 32 HP:0001402
20 budd-chiari syndrome 32 HP:0002639

Symptoms via clinical synopsis from OMIM:

57
G I:
cirrhosis

Vascular:
membranous obstruction of inferior vena cava (movc)
collateral veins

Oncology:
hepatocellular carcinoma

Clinical features from OMIM:

600880

MGI Mouse Phenotypes related to Budd-Chiari Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 APOH CALR CD59 F2 F3 F5
2 cardiovascular system MP:0005385 9.92 CALR F2 F3 F5 F7 PDGFRA
3 embryo MP:0005380 9.8 CALR F2 F3 F5 JAK2 PDGFRA
4 mortality/aging MP:0010768 9.73 APOH CALR CD59 F2 F3 F5
5 reproductive system MP:0005389 9.17 CD59 F2 INSL6 JAK2 MTHFR PDGFRA

Drugs & Therapeutics for Budd-Chiari Syndrome

Drugs for Budd-Chiari Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ethiodized oil Approved, Investigational Phase 3 8008-53-5
2 Liver Extracts Phase 1
3
Uric acid Investigational 69-93-2 1175
4 Antihypertensive Agents
5 Hematinics
6 Anesthetics
7 Complement System Proteins

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Randomized and Multicenter Trial for Hepatocellular Carcinoma Adjuvant Treatment by Lipiocis Completed NCT00116454 Phase 3 131 I-lipiodol
2 Phase 1 Study of Intrahepatic Reinfusion of Highly Purified CD133+ Stem Cells in Patients With End-Stage Liver Disease Unknown status NCT01025622 Phase 1
3 The Role of Intravenous Albumin Replacement During Abdominal Paracentesis in Patients With Malignancy Related Ascites Unknown status NCT02811406
4 Balloon Angioplasty Alone Versus in Combination With Stent Placement for the Treatment of Budd-Chiari Syndrome in China: An Randomized Controlled Trial Completed NCT02201485
5 The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH) Completed NCT00721864
6 Risk Factors for Variceal Bleeding in Egyptian Patients With Non-Cirrhotic Portal Hypertension Completed NCT02635815
7 Validation of the Bispectral Index Monitor During Living Donor Liver Transplantation Completed NCT01494220
8 Vienna Vascular Liver Disease Study: Characterization of Patients With Vascular Liver Disease - a Registry With Biobank Recruiting NCT03541057
9 Vascular Liver Disease Evaluation, Follow Up and Non-Invasive Diagnostics Program Recruiting NCT03717792
10 Lyso-Gb1 as Long-term Prognostic Biomarker in Gaucher Disease - an International Multicenter Epidemiological Study (LYSO-PROVE) to Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease Recruiting NCT02416661
11 Diagnosis of Ascites in Infants and Children Not yet recruiting NCT03341221
12 Risk Factors and Predictors of Thrombosis in Patients With Philadelphia Negative Myeloprolferative Neoplasms Not yet recruiting NCT03599700
13 Portal Vein Thrombosis in Cirrhosis: A Cohort Sudy Withdrawn NCT02275585

Search NIH Clinical Center for Budd-Chiari Syndrome

Cochrane evidence based reviews: budd-chiari syndrome

Genetic Tests for Budd-Chiari Syndrome

Genetic tests related to Budd-Chiari Syndrome:

# Genetic test Affiliating Genes
1 Budd-Chiari Syndrome 29 F5 JAK2

Anatomical Context for Budd-Chiari Syndrome

MalaCards organs/tissues related to Budd-Chiari Syndrome:

41
Liver, Heart, Spleen, Kidney, Bone, Endothelial, Bone Marrow

Publications for Budd-Chiari Syndrome

Articles related to Budd-Chiari Syndrome:

(show top 50) (show all 2959)
# Title Authors PMID Year
1
Homozygous factor V Leiden mutation in a child with Budd-Chiari syndrome. 9 38 8 71
10328130 1999
2
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 38 8 71
19293426 2009
3
Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis. 38 8 71
9245936 1997
4
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. 8 71
16707754 2006
5
Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study. 9 38 8
11001884 2000
6
Budd-Chiari syndrome, portal vein and mesenteric vein thrombosis in a patient homozygous for factor V Leiden mutation treated by TIPS and thrombolysis. 9 38 71
9734642 1998
7
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 38 71
16762626 2006
8
Budd-Chiari syndrome. 38 8
16971261 2006
9
The Budd-Chiari syndrome. 38 8
14762185 2004
10
Familial polycythemia vera with Budd-Chiari syndrome in childhood. 38 8
14531919 2003
11
Risk of hepatic vein thrombosis in relation to recent use of oral contraceptives. A case-control study. 38 8
3949113 1986
12
Effect of mutation order on myeloproliferative neoplasms. 71
25671252 2015
13
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms. 71
25043017 2014
14
Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. 71
20703299 2010
15
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. 71
19036091 2009
16
Haematopoietic stem cell release is regulated by circadian oscillations. 71
18256599 2008
17
JAK2 V617F mutation in unexplained loss of first pregnancy. 71
17989398 2007
18
Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. 71
16493002 2006
19
The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. 71
16603627 2006
20
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 71
16247455 2006
21
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 71
16325696 2005
22
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 71
15793561 2005
23
A gain-of-function mutation of JAK2 in myeloproliferative disorders. 71
15858187 2005
24
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. 71
15781101 2005
25
R255h amino acid substitution of protein Z identified in patients with factor V Leiden mutation. 71
15638861 2005
26
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. 71
15534175 2004
27
Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. 71
14996674 2004
28
Improved hemoglobin status and reduced menstrual blood loss among female carriers of factor V Leiden--an evolutionary advantage? 71
11686338 2001
29
Mutations in coagulation factors in women with unexplained late fetal loss. 71
11018168 2000
30
Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. 71
10666427 2000
31
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. 71
10494770 1999
32
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. 71
10477778 1999
33
Double-homozygosity for factor V Leiden and the prothrombin gene G20210A variant in a young patient with idiopathic venous thrombosis. 71
10507841 1999
34
Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood. 71
10348711 1999
35
Case-control study of risk of cerebral sinus thrombosis in oral contraceptive users and in [correction of who are] carriers of hereditary prothrombotic conditions. The Cerebral Venous Sinus Thrombosis Study Group. 71
9518910 1998
36
A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. 71
9454741 1998
37
Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss--a possible evolutionary selection mechanism. 71
9459326 1998
38
Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations. 71
9415695 1997
39
Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations. 71
9372726 1997
40
The prevalence of factor V Leiden (1691 G-->A) mutation in Turkey. 71
9339109 1997
41
Inherited prethrombotic disorders and infectious purpura. 71
8822583 1996
42
HELLP syndrome associated with factor V R506Q mutation. 71
8616100 1996
43
Population study of the G1691A mutation (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C. 71
8566967 1996
44
Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. 71
7586244 1995
45
Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. 71
7877648 1995
46
Familial occurrence of membranous obstruction of the inferior vena cava: arguments in favor of a congenital etiology. 8
7665859 1995
47
High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis. 71
7803250 1994
48
Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. 71
8049422 1994
49
Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. 71
7911872 1994
50
Activated protein C resistance caused by Arg506Gln mutation in factor Va. 71
7910348 1994

Variations for Budd-Chiari Syndrome

ClinVar genetic disease variations for Budd-Chiari Syndrome:

6 (show top 50) (show all 184)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic rs77375493 9:5073770-5073770 9:5073770-5073770
2 F5 NM_000130.4(F5): c.1601G> A (p.Arg534Gln) single nucleotide variant risk factor rs6025 1:169519049-169519049 1:169549811-169549811
3 F5 NM_000130.4(F5): c.*1488T> C single nucleotide variant Uncertain significance rs75764442 1:169482063-169482063 1:169512825-169512825
4 F5 NM_000130.4(F5): c.*1170G> A single nucleotide variant Uncertain significance rs191866237 1:169482381-169482381 1:169513143-169513143
5 F5 NM_000130.4(F5): c.5054C> G (p.Thr1685Ser) single nucleotide variant Uncertain significance rs6011 1:169500178-169500178 1:169530940-169530940
6 F5 NM_000130.4(F5): c.4405T> C (p.Ser1469Pro) single nucleotide variant Uncertain significance rs144262027 1:169509923-169509923 1:169540685-169540685
7 F5 NM_000130.4(F5): c.*441C> T single nucleotide variant Uncertain significance rs188490117 1:169483110-169483110 1:169513872-169513872
8 F5 NM_000130.4(F5): c.*157A> T single nucleotide variant Uncertain significance rs886045539 1:169483394-169483394 1:169514156-169514156
9 F5 NM_000130.4(F5): c.*104A> C single nucleotide variant Uncertain significance rs886045540 1:169483447-169483447 1:169514209-169514209
10 F5 NM_000130.4(F5): c.6459T> C (p.Tyr2153=) single nucleotide variant Uncertain significance rs773618429 1:169484751-169484751 1:169515513-169515513
11 F5 NM_000130.4(F5): c.5721T> C (p.Cys1907=) single nucleotide variant Uncertain significance rs886045543 1:169494142-169494142 1:169524904-169524904
12 F5 NM_000130.4(F5): c.5589C> A (p.Pro1863=) single nucleotide variant Uncertain significance rs148772659 1:169497163-169497163 1:169527925-169527925
13 F5 NM_000130.4(F5): c.5534A> G (p.His1845Arg) single nucleotide variant Uncertain significance rs200865371 1:169497218-169497218 1:169527980-169527980
14 F5 NM_000130.4(F5): c.5490G> A (p.Leu1830=) single nucleotide variant Uncertain significance rs149092241 1:169497262-169497262 1:169528024-169528024
15 JAK2 NM_004972.3(JAK2): c.2171T> C (p.Ile724Thr) single nucleotide variant Uncertain significance rs372254348 9:5080268-5080268 9:5080268-5080268
16 F5 NM_000130.4(F5): c.2222A> G (p.Asn741Ser) single nucleotide variant Uncertain significance rs144979314 1:169512106-169512106 1:169542868-169542868
17 F5 NM_000130.4(F5): c.1034G> A (p.Arg345Gln) single nucleotide variant Uncertain significance rs201078171 1:169524504-169524504 1:169555266-169555266
18 F5 NM_000130.4(F5): c.936C> T (p.Thr312=) single nucleotide variant Uncertain significance rs758832130 1:169525900-169525900 1:169556662-169556662
19 F5 NM_000130.4(F5): c.886G> A (p.Ala296Thr) single nucleotide variant Uncertain significance rs748350385 1:169525950-169525950 1:169556712-169556712
20 F5 NM_000130.4(F5): c.885C> T (p.Thr295=) single nucleotide variant Uncertain significance rs148752831 1:169525951-169525951 1:169556713-169556713
21 F5 NM_000130.4(F5): c.538G> A (p.Glu180Lys) single nucleotide variant Uncertain significance rs143152035 1:169529840-169529840 1:169560602-169560602
22 F5 NM_000130.4(F5): c.437G> A (p.Arg146Gln) single nucleotide variant Uncertain significance rs145625079 1:169529941-169529941 1:169560703-169560703
23 F5 NM_000130.4(F5): c.*2053G> C single nucleotide variant Uncertain significance rs886045534 1:169481498-169481498 1:169512260-169512260
24 F5 NM_000130.4(F5): c.*1432C> T single nucleotide variant Uncertain significance rs886045536 1:169482119-169482119 1:169512881-169512881
25 F5 NM_000130.4(F5): c.*598T> G single nucleotide variant Uncertain significance rs544753372 1:169482953-169482953 1:169513715-169513715
26 F5 NM_000130.4(F5): c.*476C> T single nucleotide variant Uncertain significance rs72708017 1:169483075-169483075 1:169513837-169513837
27 F5 NM_000130.4(F5): c.*400C> G single nucleotide variant Uncertain significance rs886045537 1:169483151-169483151 1:169513913-169513913
28 F5 NM_000130.4(F5): c.*396C> A single nucleotide variant Uncertain significance rs181328696 1:169483155-169483155 1:169513917-169513917
29 F5 NM_000130.4(F5): c.*216T> A single nucleotide variant Uncertain significance rs186962725 1:169483335-169483335 1:169514097-169514097
30 F5 NM_000130.4(F5): c.6360G> A (p.Lys2120=) single nucleotide variant Uncertain significance rs757104503 1:169484850-169484850 1:169515612-169515612
31 F5 NM_000130.4(F5): c.6309G> A (p.Leu2103=) single nucleotide variant Uncertain significance rs35369423 1:169487686-169487686 1:169518448-169518448
32 F5 NM_000130.4(F5): c.5788+4A> T single nucleotide variant Uncertain significance rs759428783 1:169494071-169494071 1:169524833-169524833
33 F5 NM_000130.4(F5): c.5124C> T (p.Tyr1708=) single nucleotide variant Uncertain significance rs199568344 1:169500108-169500108 1:169530870-169530870
34 F5 NM_000130.4(F5): c.4835A> T (p.Asp1612Val) single nucleotide variant Uncertain significance rs141589936 1:169505880-169505880 1:169536642-169536642
35 F5 NM_000130.4(F5): c.4356C> A (p.Ser1452Arg) single nucleotide variant Uncertain significance rs751749207 1:169509972-169509972 1:169540734-169540734
36 F5 NM_000130.4(F5): c.4035A> G (p.Gln1345=) single nucleotide variant Uncertain significance rs886045547 1:169510293-169510293 1:169541055-169541055
37 F5 NM_000130.4(F5): c.3949G> A (p.Gly1317Ser) single nucleotide variant Uncertain significance rs149048805 1:169510379-169510379 1:169541141-169541141
38 F5 NM_000130.4(F5): c.3307A> T (p.Asn1103Tyr) single nucleotide variant Uncertain significance rs886045548 1:169511021-169511021 1:169541783-169541783
39 F5 NM_000130.4(F5): c.2868T> C (p.Tyr956=) single nucleotide variant Uncertain significance rs149067268 1:169511460-169511460 1:169542222-169542222
40 F5 NM_000130.4(F5): c.2864G> T (p.Ser955Ile) single nucleotide variant Uncertain significance rs199507543 1:169511464-169511464 1:169542226-169542226
41 F5 NM_000130.4(F5): c.1659G> A (p.Glu553=) single nucleotide variant Uncertain significance rs370739570 1:169515783-169515783 1:169546545-169546545
42 F5 NM_000130.4(F5): c.738A> G (p.Thr246=) single nucleotide variant Uncertain significance rs375739973 1:169526098-169526098 1:169556860-169556860
43 F5 NM_000130.4(F5): c.111T> A (p.Ala37=) single nucleotide variant Uncertain significance rs537081933 1:169555514-169555514 1:169586276-169586276
44 F5 NM_000130.4(F5): c.3851C> T (p.Thr1284Ile) single nucleotide variant Uncertain significance rs139573207 1:169510477-169510477 1:169541239-169541239
45 F5 NM_000130.4(F5): c.3442T> C (p.Ser1148Pro) single nucleotide variant Uncertain significance rs369276714 1:169510886-169510886 1:169541648-169541648
46 F5 NM_000130.4(F5): c.-40T> C single nucleotide variant Uncertain significance rs41272465 1:169555664-169555664 1:169586426-169586426
47 F5 NM_000130.4(F5): c.-110C> A single nucleotide variant Uncertain significance rs886045552 1:169555734-169555734 1:169586496-169586496
48 F5 NM_000130.4(F5): c.*1290G> A single nucleotide variant Uncertain significance rs9332677 1:169482261-169482261 1:169513023-169513023
49 F5 NM_000130.4(F5): c.*891A> G single nucleotide variant Uncertain significance rs9332674 1:169482660-169482660 1:169513422-169513422
50 F5 NM_000130.4(F5): c.*390C> T single nucleotide variant Uncertain significance rs886045538 1:169483161-169483161 1:169513923-169513923

Expression for Budd-Chiari Syndrome

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

Pathways for Budd-Chiari Syndrome

GO Terms for Budd-Chiari Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.86 SERPINC1 F7 F5 F3 F2 CD59
2 extracellular region GO:0005576 9.81 SERPINC1 INSL6 F7 F5 F3 F2
3 cell surface GO:0009986 9.8 PDGFRA F3 CD59 CALR APOH
4 collagen-containing extracellular matrix GO:0062023 9.67 SERPINC1 F3 CALR APOH
5 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.5 F5 CD59 CALR
6 endoplasmic reticulum lumen GO:0005788 9.02 SERPINC1 F7 F5 F2 CALR
7 serine-type peptidase complex GO:1905286 8.96 F7 F3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.73 PDGFRA JAK2 F7 F3
2 positive regulation of protein kinase B signaling GO:0051897 9.71 PDGFRA F7 F3
3 ER to Golgi vesicle-mediated transport GO:0006888 9.71 F7 F5 F2 CD59
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.63 PDGFRA JAK2 F2
5 hemostasis GO:0007599 9.55 SERPINC1 F7 F5 F3 F2
6 blood coagulation, intrinsic pathway GO:0007597 9.52 F2 APOH
7 positive regulation of positive chemotaxis GO:0050927 9.51 F7 F3
8 negative regulation of fibrinolysis GO:0051918 9.49 F2 APOH
9 negative regulation of platelet activation GO:0010544 9.48 PDGFRA F2
10 positive regulation of blood coagulation GO:0030194 9.43 F7 F2 APOH
11 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.37 F7 F3
12 blood coagulation, extrinsic pathway GO:0007598 9.32 F7 F3
13 regulation of blood coagulation GO:0030193 9.26 VKORC1 SERPINC1 F2 APOH
14 blood coagulation GO:0007596 9.23 VKORC1 SERPINC1 JAK2 F7 F5 F3

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 8.8 SERPINC1 F2 APOH

Sources for Budd-Chiari Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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