BDCHS
MCID: BDD001
MIFTS: 62

Budd-Chiari Syndrome (BDCHS)

Categories: Blood diseases, Cardiovascular 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 73 20 58 72 36 29 13 54 6 44 15 39 70 32
Hepatic Vein Thrombosis 12 17 70
Membranous Obstruction of the Inferior Vena Cava 20 72
Bdchs 57 72
Budd-Chiari Syndrome, Susceptibility to, Somatic 6
Membranous Obstruction of Inferior Vena Cava 70
Budd-Chiari Syndrome, Susceptibility to 6
Budd-Chiari Syndrome, Somatic 57
Chiari Syndrome 72
Movc 72

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®:

57 (Updated 05-Apr-2021)
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® 57 600880
KEGG 36 H01433
MeSH 44 D006502
SNOMED-CT 67 195436007
ICD10 32 I82.0
MESH via Orphanet 45 D006502
ICD10 via Orphanet 33 I82.0
UMLS via Orphanet 71 C0019154 C0856761
Orphanet 58 ORPHA131
UMLS 70 C0019154 C0546323 C0856761

Summaries for Budd-Chiari Syndrome

GARD : 20 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 varicose veins. 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 drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include liver, spleen 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 : 72 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 : 73 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 518)
# Related Disease Score Top Affiliating Genes
1 portal hypertension 32.0 JAK2 F3 F2
2 varicose veins 31.8 SERPINC1 MTHFR F5 F2
3 hemoglobinuria 31.8 SERPINC1 F2 CD59
4 esophageal varix 31.7 SERPINC1 F3 F2
5 paroxysmal nocturnal hemoglobinuria 31.6 SERPINC1 MPL F2 CD59
6 splenomegaly 31.6 MPL JAK2 INSL6
7 hepatic coma 31.5 SERPINC1 F3 F2
8 polycythemia 31.5 SERPINC1 MPL JAK2 INSL6 F5 F2
9 protein c deficiency 31.4 SERPINC1 MTHFR F5 F2 APOH
10 antiphospholipid syndrome 31.4 SERPINC1 MTHFR F5 F3 F2 APOH
11 heparin-induced thrombocytopenia 31.3 SERPINC1 F3
12 myeloproliferative neoplasm 31.2 PDGFRA MPL JAK2 INSL6 FIP1L1 CALR
13 polycythemia vera 31.1 PDGFRA MPL JAK2 INSL6 FIP1L1 F5
14 pulmonary embolism 31.1 SERPINC1 MTHFR FGB F5 F3 F2
15 myelofibrosis 31.1 MPL JAK2 INSL6 CALR
16 essential thrombocythemia 31.1 SERPINC1 MTHFR MPL JAK2 F3 F2
17 thrombocytosis 31.1 SERPINC1 MPL JAK2 F3 F2 CALR
18 thrombosis 31.0 VKORC1 SERPINC1 MTHFR JAK2 FGB F7
19 protein s deficiency 31.0 SERPINC1 MTHFR F5 F3 F2 APOH
20 disseminated intravascular coagulation 31.0 SERPINC1 F7 F5 F3 F2
21 thrombophilia due to activated protein c resistance 31.0 SERPINC1 MTHFR F5 F3 F2 APOH
22 antithrombin iii deficiency 31.0 SERPINC1 MTHFR JAK2 F5 F2 APOH
23 endocarditis 30.9 SERPINC1 F2 APOH
24 thrombophilia 30.9 SERPINC1 MTHFR JAK2 FGB F7 F5
25 mitral valve stenosis 30.9 SERPINC1 F3 F2
26 portal vein thrombosis 30.9 SERPINC1 MTHFR MPL JAK2 F7 F5
27 homocysteinemia 30.8 SERPINC1 MTHFR F5 F2 APOH
28 thrombocythemia 3 30.8 JAK2 INSL6
29 eclampsia 30.8 SERPINC1 MTHFR F2
30 cardiac tamponade 30.7 F7 F3 F2
31 atrial heart septal defect 30.7 SERPINC1 MTHFR F3 F2
32 severe pre-eclampsia 30.7 SERPINC1 F5 APOH
33 pregnancy loss, recurrent 1 30.6 F5 APOH
34 thrombophilia due to thrombin defect 30.6 SERPINC1 MTHFR F5 F3 F2 APOH
35 prothrombin thrombophilia 30.6 MTHFR F2
36 cryptogenic cirrhosis 30.6 MTHFR F5 F2
37 pre-eclampsia 30.6 SERPINC1 MTHFR F5 F3 F2 APOH
38 behcet syndrome 30.5 SERPINC1 MTHFR JAK2 F5 F2 APOH
39 venous insufficiency 30.5 MTHFR F5 F2
40 thrombophlebitis 30.5 SERPINC1 MTHFR F7 F5 F3 F2
41 giant hemangioma 30.5 SERPINC1 F3 F2
42 active peptic ulcer disease 30.5 F7 F3 F2
43 acquired von willebrand syndrome 30.5 JAK2 F7 F3 F2 CALR
44 bilirubin metabolic disorder 30.5 SERPINC1 F3 F2 CYP2C9
45 lemierre's syndrome 30.4 MTHFR F3 F2
46 purpura 30.4 SERPINC1 MPL F3 F2 APOH
47 gaucher's disease 30.4 MTHFR JAK2 F5 F2
48 thrombotic thrombocytopenic purpura 30.4 SERPINC1 F3 APOH
49 catastrophic antiphospholipid syndrome 30.4 MTHFR F5 F3 APOH
50 hepatic infarction 30.4 SERPINC1 F3 F2 APOH

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 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
7 cirrhosis 58 31 frequent (33%) Frequent (79-30%) HP:0001394
8 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
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 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
12 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
13 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
14 intestinal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005214
15 gastrointestinal infarctions 58 31 occasional (7.5%) Occasional (29-5%) HP:0005244
16 cholecystitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001082
17 peritonitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002586
18 acute hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0006554
19 hepatocellular carcinoma 31 HP:0001402
20 budd-chiari syndrome 31 HP:0002639

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
G I:
cirrhosis

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

Oncology:
hepatocellular carcinoma

Clinical features from OMIM®:

600880 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.6 FIP1L1 MPL PTPRC
2 Decreased viability GR00173-A 9.6 PDGFRA
3 Decreased viability GR00221-A-1 9.6 PDGFRA
4 Decreased viability GR00221-A-2 9.6 JAK2
5 Decreased viability GR00221-A-3 9.6 PDGFRA
6 Decreased viability GR00221-A-4 9.6 PDGFRA
7 Decreased viability GR00240-S-1 9.6 CD59 MPL
8 Decreased viability GR00249-S 9.6 F5 F7 FIP1L1 PDGFRA
9 Decreased viability GR00386-A-1 9.6 CALR FIP1L1 MTHFR
10 Decreased viability GR00402-S-2 9.6 FGB PDGFRA

MGI Mouse Phenotypes related to Budd-Chiari Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.15 APOA1 CALR F2 F3 F5 F7
2 cellular MP:0005384 10.06 APOA1 CALR CD59 F2 F3 INSL6
3 homeostasis/metabolism MP:0005376 10.06 APOA1 APOH CALR CD59 F2 F3
4 embryo MP:0005380 9.91 CALR F2 F3 F5 FGB JAK2
5 integument MP:0010771 9.61 APOA1 F2 F3 F5 JAK2 MTHFR
6 mortality/aging MP:0010768 9.5 APOH CALR CD59 F2 F3 F5

Drugs & Therapeutics for Budd-Chiari Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Balloon Angioplasty Alone Versus in Combination With Stent Placement for the Treatment of Budd-Chiari Syndrome in China: An Randomized Controlled Trial Completed NCT02201485
2 Vienna Vascular Liver Disease Study: Characterization of Patients With Vascular Liver Disease - a Registry With Biobank Recruiting NCT03541057
3 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:

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

Publications for Budd-Chiari Syndrome

Articles related to Budd-Chiari Syndrome:

(show top 50) (show all 3096)
# Title Authors PMID Year
1
Homozygous factor V Leiden mutation in a child with Budd-Chiari syndrome. 6 57 54 61
10328130 1999
2
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 61 57 6
19293426 2009
3
Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis. 57 6 61
9245936 1997
4
Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention. 57 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 57 61
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. 61 54 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. 57 61
16971261 2006
9
The Budd-Chiari syndrome. 57 61
14762185 2004
10
Familial polycythemia vera with Budd-Chiari syndrome in childhood. 61 57
14531919 2003
11
Risk of hepatic vein thrombosis in relation to recent use of oral contraceptives. A case-control study. 57 61
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
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. 6
10494770 1999
32
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. 6
10477778 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. 57
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
Human genetics. Bad blood by mutation. 6
8164730 1994

Variations for Budd-Chiari Syndrome

ClinVar genetic disease variations for Budd-Chiari Syndrome:

6 (show top 50) (show all 210)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 JAK2 , INSL6 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV Pathogenic 14662 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
2 F5 NM_000130.4(F5):c.1601G>A (p.Arg534Gln) SNV risk factor 642 rs6025 GRCh37: 1:169519049-169519049
GRCh38: 1:169549811-169549811
3 JAK2 , INSL6 NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) SNV risk factor 14662 rs77375493 GRCh37: 9:5073770-5073770
GRCh38: 9:5073770-5073770
4 JAK2 , INSL6 NM_001322194.1(JAK2):c.*91_*93TAT[1] Microsatellite Uncertain significance 367139 rs1057515594 GRCh37: 9:5126880-5126882
GRCh38: 9:5126880-5126882
5 F5 NM_000130.4(F5):c.*2053G>C SNV Uncertain significance 293542 rs886045534 GRCh37: 1:169481498-169481498
GRCh38: 1:169512260-169512260
6 F5 NM_000130.4(F5):c.5721T>C (p.Cys1907=) SNV Uncertain significance 293578 rs886045543 GRCh37: 1:169494142-169494142
GRCh38: 1:169524904-169524904
7 F5 NM_000130.4(F5):c.-40T>C SNV Uncertain significance 293645 rs41272465 GRCh37: 1:169555664-169555664
GRCh38: 1:169586426-169586426
8 F5 NM_000130.4(F5):c.3311C>A (p.Ser1104Tyr) SNV Uncertain significance 293610 rs188882337 GRCh37: 1:169511017-169511017
GRCh38: 1:169541779-169541779
9 F5 NM_000130.4(F5):c.3442T>C (p.Ser1148Pro) SNV Uncertain significance 293607 rs369276714 GRCh37: 1:169510886-169510886
GRCh38: 1:169541648-169541648
10 F5 NM_000130.4(F5):c.3455A>C (p.Glu1152Ala) SNV Uncertain significance 293606 rs543751483 GRCh37: 1:169510873-169510873
GRCh38: 1:169541635-169541635
11 F5 NM_000130.4(F5):c.1624A>G (p.Ile542Val) SNV Uncertain significance 293626 rs776949074 GRCh37: 1:169515818-169515818
GRCh38: 1:169546580-169546580
12 F5 NM_000130.4(F5):c.4959T>A (p.Asp1653Glu) SNV Uncertain significance 293593 rs886045546 GRCh37: 1:169505756-169505756
GRCh38: 1:169536518-169536518
13 F5 NM_000130.4(F5):c.1300G>A (p.Val434Met) SNV Uncertain significance 293630 rs574610215 GRCh37: 1:169519974-169519974
GRCh38: 1:169550736-169550736
14 F5 NM_000130.4(F5):c.5490G>A (p.Leu1830=) SNV Uncertain significance 293582 rs149092241 GRCh37: 1:169497262-169497262
GRCh38: 1:169528024-169528024
15 F5 NM_000130.4(F5):c.*157A>T SNV Uncertain significance 293568 rs886045539 GRCh37: 1:169483394-169483394
GRCh38: 1:169514156-169514156
16 F5 NM_000130.4(F5):c.4835A>T (p.Asp1612Val) SNV Uncertain significance 293594 rs141589936 GRCh37: 1:169505880-169505880
GRCh38: 1:169536642-169536642
17 F5 NM_000130.4(F5):c.6459T>C (p.Tyr2153=) SNV Uncertain significance 293573 rs773618429 GRCh37: 1:169484751-169484751
GRCh38: 1:169515513-169515513
18 JAK2 , INSL6 NM_004972.3(JAK2):c.*1288_*1289insGT Insertion Uncertain significance 367151 rs1057515597 GRCh37: 9:5128078-5128079
GRCh38: 9:5128078-5128079
19 F5 NM_000130.4(F5):c.3949G>A (p.Gly1317Ser) SNV Uncertain significance 293602 rs149048805 GRCh37: 1:169510379-169510379
GRCh38: 1:169541141-169541141
20 F5 NM_000130.4(F5):c.1106C>T (p.Ala369Val) SNV Uncertain significance 293631 rs200934105 GRCh37: 1:169524432-169524432
GRCh38: 1:169555194-169555194
21 F5 NM_000130.4(F5):c.5308G>A (p.Val1770Ile) SNV Uncertain significance 293587 rs374815777 GRCh37: 1:169498957-169498957
GRCh38: 1:169529719-169529719
22 F5 NM_000130.4(F5):c.*1939T>C SNV Uncertain significance 293543 rs886045535 GRCh37: 1:169481612-169481612
GRCh38: 1:169512374-169512374
23 F5 NM_000130.4(F5):c.885C>T (p.Thr295=) SNV Uncertain significance 293635 rs148752831 GRCh37: 1:169525951-169525951
GRCh38: 1:169556713-169556713
24 F5 NM_000130.4(F5):c.2868T>C (p.Tyr956=) SNV Uncertain significance 293617 rs149067268 GRCh37: 1:169511460-169511460
GRCh38: 1:169542222-169542222
25 F5 NM_000130.4(F5):c.*1170G>A SNV Uncertain significance 293552 rs191866237 GRCh37: 1:169482381-169482381
GRCh38: 1:169513143-169513143
26 F5 NM_000130.4(F5):c.3307A>T (p.Asn1103Tyr) SNV Uncertain significance 293611 rs886045548 GRCh37: 1:169511021-169511021
GRCh38: 1:169541783-169541783
27 JAK2 , INSL6 NM_004972.3(JAK2):c.2762-10_2762-9del Deletion Uncertain significance 367131 rs529050943 GRCh37: 9:5090435-5090436
GRCh38: 9:5090435-5090436
28 F5 NM_000130.4(F5):c.1659G>A (p.Glu553=) SNV Uncertain significance 293625 rs370739570 GRCh37: 1:169515783-169515783
GRCh38: 1:169546545-169546545
29 F5 NM_000130.4(F5):c.5788+4A>T SNV Uncertain significance 293577 rs759428783 GRCh37: 1:169494071-169494071
GRCh38: 1:169524833-169524833
30 JAK2 , INSL6 NM_001322194.1(JAK2):c.*1291_*1292GT[19] Microsatellite Uncertain significance 367154 rs139964957 GRCh37: 9:5128081-5128082
GRCh38: 9:5128081-5128082
31 F5 NM_000130.4(F5):c.*363T>G SNV Uncertain significance 293566 rs115882472 GRCh37: 1:169483188-169483188
GRCh38: 1:169513950-169513950
32 F5 NM_000130.4(F5):c.*1432C>T SNV Uncertain significance 293549 rs886045536 GRCh37: 1:169482119-169482119
GRCh38: 1:169512881-169512881
33 F5 NM_000130.4(F5):c.3255A>C (p.Thr1085=) SNV Uncertain significance 293613 rs6006 GRCh37: 1:169511073-169511073
GRCh38: 1:169541835-169541835
34 JAK2 , INSL6 NM_004972.3(JAK2):c.*1388_*1392dup Duplication Uncertain significance 367159 rs1038207109 GRCh37: 9:5128175-5128176
GRCh38: 9:5128175-5128176
35 F5 NM_000130.4(F5):c.*390C>T SNV Uncertain significance 293565 rs886045538 GRCh37: 1:169483161-169483161
GRCh38: 1:169513923-169513923
36 F5 NM_000130.4(F5):c.5534A>G (p.His1845Arg) SNV Uncertain significance 293581 rs200865371 GRCh37: 1:169497218-169497218
GRCh38: 1:169527980-169527980
37 F5 NM_000130.4(F5):c.1034G>A (p.Arg345Gln) SNV Uncertain significance 293632 rs201078171 GRCh37: 1:169524504-169524504
GRCh38: 1:169555266-169555266
38 F5 NM_000130.4(F5):c.*762G>A SNV Uncertain significance 293558 rs753366128 GRCh37: 1:169482789-169482789
GRCh38: 1:169513551-169513551
39 JAK2 NM_004972.3(JAK2):c.-138C>T SNV Uncertain significance 367116 rs1057515590 GRCh37: 9:4985601-4985601
GRCh38: 9:4985601-4985601
40 F5 NM_000130.4(F5):c.524A>G (p.His175Arg) SNV Uncertain significance 293639 rs201510575 GRCh37: 1:169529854-169529854
GRCh38: 1:169560616-169560616
41 F5 NM_000130.4(F5):c.3851C>T (p.Thr1284Ile) SNV Uncertain significance 293603 rs139573207 GRCh37: 1:169510477-169510477
GRCh38: 1:169541239-169541239
42 F5 NM_000130.4(F5):c.2864G>T (p.Ser955Ile) SNV Uncertain significance 293618 rs199507543 GRCh37: 1:169511464-169511464
GRCh38: 1:169542226-169542226
43 F5 NM_000130.4(F5):c.2222A>G (p.Asn741Ser) SNV Uncertain significance 293621 rs144979314 GRCh37: 1:169512106-169512106
GRCh38: 1:169542868-169542868
44 F5 NM_000130.4(F5):c.*400C>G SNV Uncertain significance 293563 rs886045537 GRCh37: 1:169483151-169483151
GRCh38: 1:169513913-169513913
45 F5 NM_000130.4(F5):c.1785G>A (p.Glu595=) SNV Uncertain significance 293624 rs112333778 GRCh37: 1:169513724-169513724
GRCh38: 1:169544486-169544486
46 F5 NM_000130.4(F5):c.886G>A (p.Ala296Thr) SNV Uncertain significance 293634 rs748350385 GRCh37: 1:169525950-169525950
GRCh38: 1:169556712-169556712
47 F5 NM_000130.4(F5):c.6309G>A (p.Leu2103=) SNV Uncertain significance 293575 rs35369423 GRCh37: 1:169487686-169487686
GRCh38: 1:169518448-169518448
48 F5 NM_000130.4(F5):c.5589C>A (p.Pro1863=) SNV Uncertain significance 293579 rs148772659 GRCh37: 1:169497163-169497163
GRCh38: 1:169527925-169527925
49 F5 NM_000130.4(F5):c.*891A>G SNV Uncertain significance 293555 rs9332674 GRCh37: 1:169482660-169482660
GRCh38: 1:169513422-169513422
50 F5 NM_000130.4(F5):c.5332G>C (p.Glu1778Gln) SNV Uncertain significance 293586 rs886045544 GRCh37: 1:169498933-169498933
GRCh38: 1:169529695-169529695

Expression for Budd-Chiari Syndrome

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

Pathways for Budd-Chiari Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 SERPINC1 MPL JAK2 FGB F7 F5
2
Show member pathways
12.53 SERPINC1 FGB F7 F5 F3 F2
3
Show member pathways
12.04 MTHFR F7 F2 APOA1
4
Show member pathways
11.63 SERPINC1 FGB F7 F5 F3 F2
5
Show member pathways
11.6 MPL FGB F2
6 11.33 SERPINC1 FGB F7 F5 F3 F2
7 11.25 FGB F2 CYP2C9
8 10.61 VKORC1 F7 F2

GO Terms for Budd-Chiari Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.06 SERPINC1 INSL6 FGB F7 F5 F3
2 extracellular space GO:0005615 9.96 SERPINC1 FGB F7 F5 F3 F2
3 external side of plasma membrane GO:0009897 9.83 PTPRC PDGFRA FGB F2 CALR
4 blood microparticle GO:0072562 9.71 SERPINC1 FGB F2 APOA1
5 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.63 F5 CD59 CALR
6 endoplasmic reticulum lumen GO:0005788 9.63 SERPINC1 F7 F5 F2 CALR APOA1
7 cell surface GO:0009986 9.61 PTPRC PDGFRA MPL FGB F3 CD59
8 endocytic vesicle lumen GO:0071682 9.51 CALR APOA1
9 platelet alpha granule GO:0031091 9.49 FGB F5
10 chylomicron GO:0042627 9.48 APOH APOA1
11 serine-type peptidase complex GO:1905286 9.37 F7 F3
12 collagen-containing extracellular matrix GO:0062023 9.23 SERPINC1 FGB F7 F3 F2 CALR

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.87 PDGFRA JAK2 F7 F3
2 cellular protein metabolic process GO:0044267 9.81 SERPINC1 F5 F2 APOA1
3 ER to Golgi vesicle-mediated transport GO:0006888 9.78 F7 F5 F2 CD59
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 PDGFRA JAK2 F2
5 platelet aggregation GO:0070527 9.63 PDGFRA MPL FGB
6 platelet degranulation GO:0002576 9.62 FGB F5 APOH APOA1
7 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.61 FGB CALR APOA1
8 positive regulation of positive chemotaxis GO:0050927 9.58 F7 F3
9 plasminogen activation GO:0031639 9.56 FGB APOH
10 negative regulation of fibrinolysis GO:0051918 9.55 F2 APOH
11 positive regulation of lipoprotein lipase activity GO:0051006 9.54 APOH APOA1
12 regulation of JAK-STAT cascade GO:0046425 9.52 PTPRC JAK2
13 negative regulation of platelet activation GO:0010544 9.49 PDGFRA F2
14 regulation of blood coagulation GO:0030193 9.46 VKORC1 SERPINC1 F2 APOH
15 positive regulation of blood coagulation GO:0030194 9.43 F7 F2 APOH
16 hemostasis GO:0007599 9.43 SERPINC1 FGB F7 F5 F3 F2
17 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.4 F7 F3
18 blood coagulation, extrinsic pathway GO:0007598 9.37 F7 F3
19 blood coagulation GO:0007596 9.28 VKORC1 SERPINC1 JAK2 FGB F7 F5

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 9.1 PTPRC JAK2 FGB F7 F2 APOA1

Sources for Budd-Chiari Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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