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 56 12 74 52 58 73 36 29 13 54 6 43 15 39 71 32
Hepatic Vein Thrombosis 12 17 71
Membranous Obstruction of the Inferior Vena Cava 52 73
Bdchs 56 73
Budd-Chiari Syndrome, Susceptibility to, Somatic 6
Membranous Obstruction of Inferior Vena Cava 71
Budd-Chiari Syndrome, Susceptibility to 6
Budd-Chiari Syndrome, Somatic 56
Chiari Syndrome 73
Movc 73

Characteristics:

Orphanet epidemiological data:

58
budd-chiari syndrome
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

56
Inheritance:
? autosomal recessive


HPO:

31
budd-chiari syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:11512
OMIM 56 600880
KEGG 36 H01433
MeSH 43 D006502
SNOMED-CT 67 38739001
ICD10 32 I82.0
MESH via Orphanet 44 D006502
ICD10 via Orphanet 33 I82.0
UMLS via Orphanet 72 C0019154 C0856761
Orphanet 58 ORPHA131
UMLS 71 C0019154 C0546323 C0856761

Summaries for Budd-Chiari Syndrome

NIH Rare Diseases : 52 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 portal hypertension and polycythemia. 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 kidney, and related phenotypes are splenomegaly and portal hypertension

KEGG : 36 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 : 73 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 : 74 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 507)
# Related Disease Score Top Affiliating Genes
1 portal hypertension 32.2 JAK2 F3 F2
2 polycythemia 32.0 MPL JAK2 F5 CALR
3 esophageal varix 31.9 SERPINC1 F3 F2
4 paroxysmal nocturnal hemoglobinuria 31.9 SERPINC1 F2 CD59
5 hemoglobinuria 31.7 SERPINC1 MPL F2 CD59
6 heparin-induced thrombocytopenia 31.6 SERPINC1 F3
7 thrombophilia due to thrombin defect 31.6 SERPINC1 MTHFR F5 F3 F2 APOH
8 varicose veins 31.6 SERPINC1 MTHFR F5 F2 APOA1
9 protein c deficiency 31.5 SERPINC1 MTHFR F5 F2 APOH
10 antiphospholipid syndrome 31.5 SERPINC1 MTHFR F5 F3 F2 APOH
11 myeloproliferative neoplasm 31.3 PDGFRA MPL JAK2 FIP1L1 CALR
12 pulmonary embolism 31.3 SERPINC1 MTHFR F5 F3 F2 APOH
13 myelofibrosis 31.2 MPL JAK2 INSL6 CALR
14 thrombocythemia 3 31.2 JAK2 INSL6
15 thrombocytosis 31.1 SERPINC1 MPL JAK2 F3 F2 CALR
16 disseminated intravascular coagulation 31.1 SERPINC1 F7 F5 F3 F2
17 endocarditis 31.1 SERPINC1 F2 APOH
18 pregnancy loss, recurrent 1 31.1 MTHFR F5 APOH
19 thrombophilia due to activated protein c resistance 31.0 SERPINC1 MTHFR F5 F3 F2 APOH
20 antithrombin iii deficiency 31.0 SERPINC1 MTHFR JAK2 F5 F2 APOH
21 protein s deficiency 31.0 SERPINC1 MTHFR F5 F3 F2 APOH
22 polycythemia vera 31.0 PDGFRA MPL JAK2 INSL6 FIP1L1 F5
23 essential thrombocythemia 31.0 SERPINC1 MTHFR MPL JAK2 F3 F2
24 factor v leiden thrombophilia 31.0 MTHFR F5
25 eclampsia 31.0 SERPINC1 MTHFR F2
26 homocysteinemia 31.0 SERPINC1 MTHFR F5 F2 APOH
27 prothrombin-related thrombophilia 31.0 MTHFR F2
28 acquired von willebrand syndrome 31.0 JAK2 F7 F3
29 thrombophilia 30.9 SERPINC1 MTHFR JAK2 F7 F5 F3
30 cardiac tamponade 30.9 F7 F3 F2
31 severe pre-eclampsia 30.9 SERPINC1 F5 APOH
32 atrial heart septal defect 30.9 SERPINC1 MTHFR F3 F2
33 mitral valve stenosis 30.9 SERPINC1 F3 F2
34 cryptogenic cirrhosis 30.8 MTHFR F5 F2
35 venous insufficiency 30.8 MTHFR F5 F2
36 giant hemangioma 30.8 SERPINC1 F3 F2
37 active peptic ulcer disease 30.7 F7 F3 F2
38 thrombotic thrombocytopenic purpura 30.7 SERPINC1 F3 APOH
39 chronic eosinophilic leukemia 30.6 PDGFRA JAK2 FIP1L1
40 acquired polycythemia 30.6 MPL JAK2
41 catastrophic antiphospholipid syndrome 30.6 MTHFR F5 F3 APOH
42 sagittal sinus thrombosis 30.6 SERPINC1 F5 F3 F2
43 behcet syndrome 30.6 SERPINC1 MTHFR JAK2 F5 F2 APOH
44 pre-eclampsia 30.6 SERPINC1 MTHFR F5 F3 F2 APOH
45 hepatic infarction 30.6 SERPINC1 F3 F2 APOH
46 chronic leukemia 30.6 PDGFRA JAK2 FIP1L1
47 purpura 30.5 SERPINC1 MPL F3 F2 APOH
48 compartment syndrome 30.5 SERPINC1 F7 F3 F2
49 thrombophlebitis 30.5 SERPINC1 MTHFR F7 F5 F3 F2
50 lemierre's syndrome 30.5 MTHFR F3 F2

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:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 portal hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0001409
3 ascites 58 31 hallmark (90%) Very frequent (99-80%) HP:0001541
4 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
5 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
6 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
7 cirrhosis 58 31 frequent (33%) Frequent (79-30%) HP:0001394
8 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
9 esophageal varix 58 31 frequent (33%) Frequent (79-30%) HP:0002040
10 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
11 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
12 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
13 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
14 intestinal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005214
15 acute hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0006554
16 cholecystitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001082
17 gastrointestinal infarctions 58 31 occasional (7.5%) Occasional (29-5%) HP:0005244
18 peritonitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002586
19 hepatocellular carcinoma 31 HP:0001402
20 budd-chiari syndrome 31 HP:0002639

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 APOA1 CALR CHGA F2 F3 F5
2 homeostasis/metabolism MP:0005376 9.86 APOA1 APOH CALR CD59 CHGA F2
3 mortality/aging MP:0010768 9.5 APOH CALR CD59 CHGA F2 F3

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 Diagnosis of Ascites in Infants and Children Unknown status NCT03341221
4 The Role of Intravenous Albumin Replacement During Abdominal Paracentesis in Patients With Malignancy Related Ascites Unknown status NCT02811406
5 Balloon Angioplasty Alone Versus in Combination With Stent Placement for the Treatment of Budd-Chiari Syndrome in China: An Randomized Controlled Trial Completed NCT02201485
6 The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH) Completed NCT00721864
7 Risk Factors for Variceal Bleeding in Egyptian Patients With Non-Cirrhotic Portal Hypertension Completed NCT02635815
8 Validation of the Bispectral Index Monitor During Living Donor Liver Transplantation Completed NCT01494220
9 Vienna Vascular Liver Disease Study: Characterization of Patients With Vascular Liver Disease - a Registry With Biobank Recruiting NCT03541057
10 Vascular Liver Disease Evaluation, Follow Up and Non-Invasive Diagnostics Program Recruiting NCT03717792
11 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
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 JAK2

Anatomical Context for Budd-Chiari Syndrome

MalaCards organs/tissues related to Budd-Chiari Syndrome:

40
Liver, Heart, Kidney, Bone, Spleen, Bone Marrow, Myeloid

Publications for Budd-Chiari Syndrome

Articles related to Budd-Chiari Syndrome:

(show top 50) (show all 2995)
# Title Authors PMID Year
1
Homozygous factor V Leiden mutation in a child with Budd-Chiari syndrome. 54 61 56 6
10328130 1999
2
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 61 56 6
19293426 2009
3
Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis. 61 56 6
9245936 1997
4
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. 56 6
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. 54 61 56
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. 54 61 6
9734642 1998
7
Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 61 6
16762626 2006
8
Budd-Chiari syndrome. 61 56
16971261 2006
9
The Budd-Chiari syndrome. 61 56
14762185 2004
10
Familial polycythemia vera with Budd-Chiari syndrome in childhood. 61 56
14531919 2003
11
Risk of hepatic vein thrombosis in relation to recent use of oral contraceptives. A case-control study. 61 56
3949113 1986
12
Effect of mutation order on myeloproliferative neoplasms. 6
25671252 2015
13
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms. 6
25043017 2014
14
Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. 6
20703299 2010
15
No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage. 6
19036091 2009
16
Haematopoietic stem cell release is regulated by circadian oscillations. 6
18256599 2008
17
JAK2 V617F mutation in unexplained loss of first pregnancy. 6
17989398 2007
18
Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. 6
16493002 2006
19
The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. 6
16603627 2006
20
The JAK2 V617F mutation in de novo acute myelogenous leukemias. 6
16247455 2006
21
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 6
16325696 2005
22
A gain-of-function mutation of JAK2 in myeloproliferative disorders. 6
15858187 2005
23
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 6
15793561 2005
24
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. 6
15781101 2005
25
R255h amino acid substitution of protein Z identified in patients with factor V Leiden mutation. 6
15638861 2005
26
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. 6
15534175 2004
27
Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. 6
14996674 2004
28
Improved hemoglobin status and reduced menstrual blood loss among female carriers of factor V Leiden--an evolutionary advantage? 6
11686338 2001
29
Mutations in coagulation factors in women with unexplained late fetal loss. 6
11018168 2000
30
Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. 6
10666427 2000
31
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. 6
10477778 1999
32
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. 6
10494770 1999
33
Double-homozygosity for factor V Leiden and the prothrombin gene G20210A variant in a young patient with idiopathic venous thrombosis. 6
10507841 1999
34
Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood. 6
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. 6
9518910 1998
36
A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. 6
9454741 1998
37
Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss--a possible evolutionary selection mechanism. 6
9459326 1998
38
Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations. 6
9415695 1997
39
Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations. 6
9372726 1997
40
The prevalence of factor V Leiden (1691 G-->A) mutation in Turkey. 6
9339109 1997
41
Inherited prethrombotic disorders and infectious purpura. 6
8822583 1996
42
HELLP syndrome associated with factor V R506Q mutation. 6
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. 6
8566967 1996
44
Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. 6
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. 6
7877648 1995
46
Familial occurrence of membranous obstruction of the inferior vena cava: arguments in favor of a congenital etiology. 56
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. 6
7803250 1994
48
Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. 6
8049422 1994
49
Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. 6
7911872 1994
50
Activated protein C resistance caused by Arg506Gln mutation in factor Va. 6
7910348 1994

Variations for Budd-Chiari Syndrome

ClinVar genetic disease variations for Budd-Chiari Syndrome:

6 (show top 50) (show all 184) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 JAK2 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe)SNV Pathogenic 14662 rs77375493 9:5073770-5073770 9:5073770-5073770
2 F5 NM_000130.4(F5):c.1601G>A (p.Arg534Gln)SNV risk factor 642 rs6025 1:169519049-169519049 1:169549811-169549811
3 F5 NM_000130.4(F5):c.5490G>A (p.Leu1830=)SNV Conflicting interpretations of pathogenicity 293582 rs149092241 1:169497262-169497262 1:169528024-169528024
4 F5 NM_000130.4(F5):c.5054C>G (p.Thr1685Ser)SNV Conflicting interpretations of pathogenicity 293590 rs6011 1:169500178-169500178 1:169530940-169530940
5 F5 NM_000130.4(F5):c.4405T>C (p.Ser1469Pro)SNV Conflicting interpretations of pathogenicity 293595 rs144262027 1:169509923-169509923 1:169540685-169540685
6 F5 NM_000130.4(F5):c.3851C>T (p.Thr1284Ile)SNV Conflicting interpretations of pathogenicity 293603 rs139573207 1:169510477-169510477 1:169541239-169541239
7 F5 NM_000130.4(F5):c.2222A>G (p.Asn741Ser)SNV Conflicting interpretations of pathogenicity 293621 rs144979314 1:169512106-169512106 1:169542868-169542868
8 F5 NM_000130.4(F5):c.885C>T (p.Thr295=)SNV Conflicting interpretations of pathogenicity 293635 rs148752831 1:169525951-169525951 1:169556713-169556713
9 F5 NM_000130.4(F5):c.6309G>A (p.Leu2103=)SNV Conflicting interpretations of pathogenicity 293575 rs35369423 1:169487686-169487686 1:169518448-169518448
10 F5 NM_000130.4(F5):c.5788+4A>TSNV Conflicting interpretations of pathogenicity 293577 rs759428783 1:169494071-169494071 1:169524833-169524833
11 F5 NM_000130.4(F5):c.4035A>G (p.Gln1345=)SNV Conflicting interpretations of pathogenicity 293601 rs886045547 1:169510293-169510293 1:169541055-169541055
12 F5 NM_000130.4(F5):c.2868T>C (p.Tyr956=)SNV Conflicting interpretations of pathogenicity 293617 rs149067268 1:169511460-169511460 1:169542222-169542222
13 F5 NM_000130.4(F5):c.5558G>T (p.Gly1853Val)SNV Conflicting interpretations of pathogenicity 293580 rs182566496 1:169497194-169497194 1:169527956-169527956
14 F5 NM_000130.4(F5):c.3402C>A (p.Asp1134Glu)SNV Conflicting interpretations of pathogenicity 293609 rs373880789 1:169510926-169510926 1:169541688-169541688
15 F5 NM_000130.4(F5):c.1391C>T (p.Thr464Ile)SNV Conflicting interpretations of pathogenicity 293629 rs141768227 1:169519883-169519883 1:169550645-169550645
16 F5 NM_000130.4(F5):c.2906A>G (p.Asn969Ser)SNV Conflicting interpretations of pathogenicity 293616 rs9332604 1:169511422-169511422 1:169542184-169542184
17 F5 NM_000130.4(F5):c.2247_2249delAGAshort repeat Conflicting interpretations of pathogenicity 293620 rs575766548 1:169512079-169512081 1:169542841-169542843
18 F5 NM_000130.4(F5):c.524A>G (p.His175Arg)SNV Conflicting interpretations of pathogenicity 293639 rs201510575 1:169529854-169529854 1:169560616-169560616
19 JAK2 NM_004972.3(JAK2):c.2931G>A (p.Leu977=)SNV Conflicting interpretations of pathogenicity 367132 rs55930140 9:5090783-5090783 9:5090783-5090783
20 F5 NM_000130.4(F5):c.165T>C (p.Asn55=)SNV Conflicting interpretations of pathogenicity 293641 rs781434840 1:169551754-169551754 1:169582516-169582516
21 JAK2 NM_004972.3(JAK2):c.2958C>T (p.Asn986=)SNV Conflicting interpretations of pathogenicity 367133 rs55873896 9:5090810-5090810 9:5090810-5090810
22 JAK2 NM_004972.3(JAK2):c.3252T>C (p.Asn1084=)SNV Uncertain significance 367136 rs140219534 9:5126407-5126407 9:5126407-5126407
23 JAK2 NM_004972.3(JAK2):c.*1185A>CSNV Uncertain significance 367150 rs567730823 9:5127976-5127976 9:5127976-5127976
24 JAK2 NM_001322194.1(JAK2):c.*1291_*1292GT[23]short repeat Uncertain significance 367153 rs139964957 9:5128080-5128081 9:5128080-5128081
25 JAK2 NM_004972.3(JAK2):c.*1337T>CSNV Uncertain significance 367157 rs1057515601 9:5128128-5128128 9:5128128-5128128
26 JAK2 NM_004972.3(JAK2):c.*1351T>CSNV Uncertain significance 367158 rs1057515602 9:5128142-5128142 9:5128142-5128142
27 F5 NM_000130.4(F5):c.5265A>G (p.Ile1755Met)SNV Uncertain significance 579171 rs41272455 1:169499000-169499000 1:169529762-169529762
28 JAK2 NM_004972.3(JAK2):c.*1288_*1289insGTinsertion Uncertain significance 367151 rs1057515597 9:5128078-5128079 9:5128078-5128079
29 JAK2 NM_001322194.1(JAK2):c.*1291_*1292GT[19]short repeat Uncertain significance 367154 rs139964957 9:5128081-5128082 9:5128081-5128082
30 JAK2 NM_004972.3(JAK2):c.-109+10A>CSNV Uncertain significance 367118 rs535427409 9:4985640-4985640 9:4985640-4985640
31 JAK2 NM_004972.3(JAK2):c.-42C>TSNV Uncertain significance 367119 rs887641188 9:4986006-4986006 9:4986006-4986006
32 JAK2 NM_004972.3(JAK2):c.337C>G (p.Leu113Val)SNV Uncertain significance 367121 rs143103233 9:5029893-5029893 9:5029893-5029893
33 JAK2 NM_004972.3(JAK2):c.1470T>C (p.Asn490=)SNV Uncertain significance 367126 rs1057515592 9:5069165-5069165 9:5069165-5069165
34 F5 NM_000130.4(F5):c.1106C>T (p.Ala369Val)SNV Uncertain significance 293631 rs200934105 1:169524432-169524432 1:169555194-169555194
35 JAK2 NM_004972.3(JAK2):c.-138C>TSNV Uncertain significance 367116 rs1057515590 9:4985601-4985601 9:4985601-4985601
36 JAK2 NM_004972.3(JAK2):c.-135G>CSNV Uncertain significance 367117 rs763947963 9:4985604-4985604 9:4985604-4985604
37 JAK2 NM_004972.3(JAK2):c.1326+15C>GSNV Uncertain significance 367125 rs750388462 9:5066804-5066804 9:5066804-5066804
38 JAK2 NM_004972.3(JAK2):c.2196G>A (p.Leu732=)SNV Uncertain significance 367128 rs145273013 9:5080293-5080293 9:5080293-5080293
39 JAK2 NM_004972.3(JAK2):c.3076C>A (p.Leu1026Met)SNV Uncertain significance 367134 rs774801005 9:5123020-5123020 9:5123020-5123020
40 JAK2 NM_004972.3(JAK2):c.3177G>A (p.Ala1059=)SNV Uncertain significance 367135 rs374744702 9:5123121-5123121 9:5123121-5123121
41 JAK2 NM_001322194.1(JAK2):c.*91_*93TAT[1]short repeat Uncertain significance 367139 rs1057515594 9:5126880-5126882 9:5126880-5126882
42 JAK2 NM_004972.3(JAK2):c.*317A>GSNV Uncertain significance 367142 rs527841946 9:5127108-5127108 9:5127108-5127108
43 JAK2 NM_004972.3(JAK2):c.*1117T>CSNV Uncertain significance 367145 rs1057515595 9:5127908-5127908 9:5127908-5127908
44 JAK2 NM_004972.3(JAK2):c.*1118T>CSNV Uncertain significance 367146 rs564550648 9:5127909-5127909 9:5127909-5127909
45 JAK2 NM_004972.3(JAK2):c.*1145G>ASNV Uncertain significance 367148 rs113064951 9:5127936-5127936 9:5127936-5127936
46 JAK2 NM_004972.3(JAK2):c.*1289T>GSNV Uncertain significance 367152 rs1057515598 9:5128080-5128080 9:5128080-5128080
47 JAK2 NM_001322194.1(JAK2):c.*1291_*1292GT[17]short repeat Uncertain significance 367156 rs139964957 9:5128081-5128086 9:5128081-5128086
48 JAK2 NM_001322194.1(JAK2):c.*1291_*1292GT[18]short repeat Uncertain significance 367155 rs139964957 9:5128081-5128084 9:5128081-5128084
49 JAK2 NM_004972.3(JAK2):c.*1388_*1392dupduplication Uncertain significance 367159 rs1038207109 9:5128175-5128176 9:5128175-5128176
50 JAK2 NM_004972.3(JAK2):c.-455C>TSNV Uncertain significance 367110 rs917034545 9:4985284-4985284 9:4985284-4985284

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 region GO:0005576 10.06 SERPINC1 INSL6 F7 F5 F3 F2
2 extracellular space GO:0005615 9.96 SERPINC1 F7 F5 F3 F2 CHGA
3 endoplasmic reticulum lumen GO:0005788 9.63 SERPINC1 F7 F5 F2 CALR APOA1
4 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.58 F5 CD59 CALR
5 cell surface GO:0009986 9.56 PTPRC PDGFRA MPL F3 CD59 CALR
6 endocytic vesicle lumen GO:0071682 9.46 CALR APOA1
7 chylomicron GO:0042627 9.43 APOH APOA1
8 serine-type peptidase complex GO:1905286 9.37 F7 F3
9 collagen-containing extracellular matrix GO:0062023 9.17 SERPINC1 F7 F3 F2 CALR APOH

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.83 PDGFRA JAK2 F7 F3
2 cellular protein metabolic process GO:0044267 9.78 SERPINC1 F5 F2 APOA1
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 PDGFRA JAK2 F2
4 ER to Golgi vesicle-mediated transport GO:0006888 9.73 F7 F5 F2 CD59
5 positive regulation of lipoprotein lipase activity GO:0051006 9.55 APOH APOA1
6 hemostasis GO:0007599 9.55 SERPINC1 F7 F5 F3 F2
7 positive regulation of positive chemotaxis GO:0050927 9.54 F7 F3
8 negative regulation of fibrinolysis GO:0051918 9.51 F2 APOH
9 regulation of JAK-STAT cascade GO:0046425 9.49 PTPRC JAK2
10 negative regulation of platelet activation GO:0010544 9.46 PDGFRA F2
11 positive regulation of blood coagulation GO:0030194 9.43 F7 F2 APOH
12 positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway GO:1900738 9.4 F2 CHGA
13 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.37 F7 F3
14 blood coagulation, extrinsic pathway GO:0007598 9.32 F7 F3
15 regulation of blood coagulation GO:0030193 9.26 VKORC1 SERPINC1 F2 APOH
16 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 9.26 SERPINC1 PTPRC F2 APOH
2 signaling receptor binding GO:0005102 9.02 PTPRC JAK2 F7 F2 APOA1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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