BDCHS
MCID: BDD001
MIFTS: 60

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 58 12 77 54 60 76 38 30 13 56 6 45 15 41 74
Hepatic Vein Thrombosis 12 17 74
Membranous Obstruction of the Inferior Vena Cava 54 76
Bdchs 58 76
Budd-Chiari Syndrome, Susceptibility to, Somatic 6
Membranous Obstruction of Inferior Vena Cava 74
Budd-Chiari Syndrome, Susceptibility to 6
Budd-Chiari Syndrome, Somatic 58
Chiari Syndrome 76
Movc 76

Characteristics:

Orphanet epidemiological data:

60
budd-chiari syndrome
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

58
Inheritance:
? autosomal recessive


Classifications:

Orphanet: 60  
Rare hepatic diseases


External Ids:

Disease Ontology 12 DOID:11512
OMIM 58 600880
KEGG 38 H01433
MeSH 45 D006502
SNOMED-CT 69 38739001
ICD10 34 I82.0
MESH via Orphanet 46 D006502
ICD10 via Orphanet 35 I82.0
UMLS via Orphanet 75 C0019154 C0856761
Orphanet 60 ORPHA131

Summaries for Budd-Chiari Syndrome

NIH Rare Diseases : 54 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 heparin-induced thrombocytopenia. 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 heart, and related phenotypes are splenomegaly and portal hypertension

UniProtKB/Swiss-Prot : 76 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 : 77 Budd–Chiari syndrome is a very rare condition, affecting one in a million adults. The condition is... more...

Description 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 315)
# Related Disease Score Top Affiliating Genes
1 polycythemia 31.3 CALR F5 JAK2
2 heparin-induced thrombocytopenia 31.0 F3 SERPINC1
3 polycythemia vera 30.8 CALR F5 JAK2 PDGFRA
4 protein c deficiency 30.7 F2 F5 MTHFR SERPINC1
5 esophageal varix 30.6 F2 SERPINC1
6 bone marrow cancer 30.6 CALR JAK2 PDGFRA
7 varicose veins 30.6 F2 F5 MTHFR SERPINC1
8 liver cirrhosis 30.4 F2 F3 SERPINC1
9 essential thrombocythemia 30.4 CALR F2 F3 JAK2
10 thrombocytosis 30.4 F2 F3 JAK2 SERPINC1
11 endocarditis 30.3 APOH F2 SERPINC1
12 behcet syndrome 30.3 APOH F5 JAK2 SERPINC1
13 antiphospholipid syndrome 30.3 APOH F2 F3 F5 MTHFR SERPINC1
14 severe pre-eclampsia 30.3 APOH F5 SERPINC1
15 eclampsia 30.3 F2 MTHFR SERPINC1
16 antithrombin iii deficiency 30.3 APOH F2 F5 MTHFR SERPINC1
17 portal vein thrombosis 30.2 APOH F2 F5 F7 JAK2 MTHFR
18 thrombosis 30.2 APOH F2 F3 F5 F7 JAK2
19 giant hemangioma 30.1 F2 F3 SERPINC1
20 ischemic colitis 30.1 APOH F2 F5 SERPINC1
21 catastrophic antiphospholipid syndrome 30.1 APOH F3 F5 MTHFR
22 homocysteinemia 30.1 F2 F5 MTHFR SERPINC1
23 thrombophilia due to thrombin defect 30.0 APOH F2 F3 F5 MTHFR SERPINC1
24 thrombophilia 29.9 APOH F2 F3 F5 MTHFR SERPINC1
25 sagittal sinus thrombosis 29.9 F2 F3 F5 SERPINC1
26 endomyocardial fibrosis 29.9 FIP1L1 PDGFRA
27 purpura 29.8 APOH F2 F3 SERPINC1
28 thrombophlebitis 29.8 APOH F2 F5 MTHFR SERPINC1
29 pulmonary embolism 29.8 APOH F2 F3 F5 MTHFR SERPINC1
30 lemierre's syndrome 29.8 F3 MTHFR
31 patent foramen ovale 29.8 APOH F2 F5 MTHFR SERPINC1
32 myeloproliferative neoplasm 29.6 CALR FIP1L1 JAK2 PDGFRA
33 protein s deficiency 29.6 APOH F2 F3 F5 MTHFR SERPINC1
34 vascular disease 29.4 APOH F2 F3 F5 MTHFR SERPINC1
35 pre-eclampsia 29.3 APOH F2 F3 F5 MTHFR SERPINC1
36 hepatic veno-occlusive disease 11.8
37 congenital disorder of glycosylation, type ik 11.4
38 hepatocellular carcinoma 10.8
39 hemoglobinuria 10.7
40 paroxysmal nocturnal hemoglobinuria 10.7
41 leiomyosarcoma 10.7
42 ulcerative colitis 10.6
43 colitis 10.6
44 acute liver failure 10.5
45 renal cell carcinoma, nonpapillary 10.5
46 thrombocytopenia 10.5
47 systemic lupus erythematosus 10.4
48 liver disease 10.4
49 echinococcosis 10.4
50 lupus erythematosus 10.4

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:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
2 portal hypertension 60 33 hallmark (90%) Very frequent (99-80%) HP:0001409
3 ascites 60 33 hallmark (90%) Very frequent (99-80%) HP:0001541
4 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
5 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
6 abdominal pain 60 33 frequent (33%) Frequent (79-30%) HP:0002027
7 cirrhosis 60 33 frequent (33%) Frequent (79-30%) HP:0001394
8 esophageal varix 60 33 frequent (33%) Frequent (79-30%) HP:0002040
9 elevated hepatic transaminase 33 frequent (33%) HP:0002910
10 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
11 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
12 jaundice 60 33 occasional (7.5%) Occasional (29-5%) HP:0000952
13 intestinal obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0005214
14 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
15 acute hepatic failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0006554
16 cholecystitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001082
17 gastrointestinal infarctions 60 33 occasional (7.5%) Occasional (29-5%) HP:0005244
18 peritonitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002586
19 elevated hepatic transaminases 60 Frequent (79-30%)
20 hepatocellular carcinoma 33 HP:0001402
21 budd-chiari syndrome 33 HP:0002639

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 APOH CALR CD59 F2 F3 F5
2 cardiovascular system MP:0005385 9.87 CALR F2 F3 F5 F7 PDGFRA
3 embryo MP:0005380 9.8 CALR F2 F3 F5 JAK2 PDGFRA
4 mortality/aging MP:0010768 9.7 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts ,Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vienna Vascular Liver Disease Study Recruiting NCT03541057
2 Ultrasound Elastography Assessment of Spleen and Liver Stiffness Before and After Transjugular Intrahepatic Portosystemic Shunt (TIPS) Procedure Recruiting NCT03427164 Not Applicable
3 Budd-Chiari Syndrome in China: Balloon Angioplasty Alone or Combined With Stent Placement? Active, not recruiting NCT02201485 Not Applicable
4 Doppler Ultrasonography in Assessment of Graft Hemodynamics After Living-Donor Liver Transplantation Not yet recruiting NCT03893773
5 Portal Vein Thrombosis in Cirrhosis 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 30 F5 JAK2

Anatomical Context for Budd-Chiari Syndrome

MalaCards organs/tissues related to Budd-Chiari Syndrome:

42
Liver, Spleen, Heart, Kidney, Endothelial, Bone, Bone Marrow

Publications for Budd-Chiari Syndrome

Articles related to Budd-Chiari Syndrome:

(show top 50) (show all 1582)
# Title Authors Year
1
Low specificity of washout to diagnose hepatocellular carcinoma in nodules showing arterial hyperenhancement in patients with Budd-Chiari. ( 30654065 )
2019
2
Mutations in CYP2C9 and/or VKORC1 haplotype are associated with higher bleeding complications in patients with Budd-Chiari syndrome on warfarin. ( 30617764 )
2019
3
Catheter Aspiration With Recanalization for Budd-Chiari Syndrome With Inferior Vena Cava Thrombosis. ( 30629033 )
2019
4
Cutting the Gordian Knot of Living-donor Liver Transplantation for Budd-Chiari Syndrome. ( 30672795 )
2019
5
Clinical treatment of diabetic foot ulcer combined with Budd-Chiari syndrome: A case report. ( 30681600 )
2019
6
Correlation analysis of collagen proportionate area in Budd-Chiari syndrome: A preliminary clinicopathological study. ( 30705890 )
2019
7
Liver and Spleen Stiffness Measurements for Assessment of Portal Hypertension Severity in Patients with Budd Chiari Syndrome. ( 30719429 )
2019
8
Long Term Survival of Patients Undergoing TIPS in Budd-Chiari Syndrome. ( 30765940 )
2019
9
Budd-Chiari syndrome in Behcet's disease: A report of two cases. ( 30783442 )
2019
10
Current knowledge in pathophysiology and management of Budd-Chiari syndrome and non-cirrhotic non-tumoral splanchnic vein thrombosis. ( 30822449 )
2019
11
Regional Differences in Budd-Chiari Syndrome and the Role of Spectral CT for the Assessment of Therapeutic Response. ( 30824362 )
2019
12
Review article: a multidisciplinary approach to the diagnosis and management of Budd-Chiari syndrome. ( 30828850 )
2019
13
Milestones in the discovery of Budd-Chiari syndrome. ( 30843330 )
2019
14
Budd-Chiari Syndrome in Behçet's Disease successfully managed with immunosuppressive and anticoagulant therapy: A case report and literature review. ( 30881861 )
2019
15
Percutaneous recanalization of a segmental inferior vena cava occlusion in a patient with situs viscerum inversus and symptomatic Budd-Chiari syndrome. ( 30885534 )
2019
16
Persistent Fever and Abdominal Pain in a Young Woman With Budd-Chiari Syndrome. ( 29352960 )
2018
17
Angioplasty for Budd-Chiari Syndrome in a Child with 26-Year Follow-up. ( 29777844 )
2018
18
Single-access liver floss technique with antegrade hepatic vein access and recanalization in Budd-Chiari syndrome. ( 29187341 )
2018
19
New Left Lobe Transplantation Procedure with Caval Reconstruction Using an Inverted Composite Graft for Chronic Budd-Chiari Syndrome in Living-Donor Liver Transplantation-A Case Report. ( 29731092 )
2018
20
Numerical simulation of hemodynamics in membranous obstruction of the suprahepatic inferior vena cava based on a subject-specific Budd-Chiari syndrome model. ( 29316476 )
2018
21
Chronic Budd-Chiari syndrome. ( 29866895 )
2018
22
Endothelial JAK2<sup>V617F</sup>does not enhance liver lesions in mice with Budd-Chiari syndrome. ( 29360553 )
2018
23
The relationship between the levels and function of endothelial progenitor cells and factor V Leiden and protein C deficiency in patients with primary Budd-Chiari syndrome. ( 29771426 )
2018
24
Treatment of Budd-Chiari Syndrome Complicated by Inferior Vena Cava Thrombosis: Individualised or Non-reproducible Strategy? ( 29731248 )
2018
25
Percutaneous Transhepatic Hepatic Vein Angioplasty in Budd-Chiari Syndrome After Transvenous Failure. ( 29851361 )
2018
26
Specific alterations in gut microbiota are associated with prognosis of Budd-Chiari syndrome. ( 29423048 )
2018
27
Budd-Chiari syndrome: a rare and life-threatening complication of Crohn's disease. ( 29348288 )
2018
28
Budd-Chiari syndrome has different presentations and disease severity during adolescence. ( 29971683 )
2018
29
A Case of Live Donor Liver Transplantation in Acute-on-Chronic Liver Failure with Budd-Chiari Syndrome: Donor and Recipient with Antiphospholipid Antibody Syndrome. ( 29959308 )
2018
30
Comparison of retrievable stents and permanent stents for Budd-Chiari syndrome due to obstructive inferior vena cava. ( 29851172 )
2018
31
Magnetic Resonance Venography Findings of Obstructed Hepatic Veins and the Inferior Vena Cava in Patients with Budd-Chiari Syndrome. ( 29713215 )
2018
32
Long-term Outcome of Recoverable stents for Budd-Chiari syndrome Complicated with Inferior Vena Cava Thrombosis. ( 29743653 )
2018
33
Transjugular intrahepatic portosystemic shunt for alveolar echinococcosis of the liver and Budd-Chiari syndrome. ( 29891417 )
2018
34
An enigmatic case presentation of Budd-Chiari syndrome with pulmonary embolism: An unusual syndrome with an uncommon complication. ( 29775966 )
2018
35
The epidemiology of Budd-Chiari syndrome in France. ( 29803757 )
2018
36
Cirrhotic cardiomyopathy is less prevalent in patients with Budd-Chiari syndrome than cirrhosis of liver. ( 29368192 )
2018
37
Endovascular treatment for hepatic vein-type Budd-Chiari syndrome: effectiveness and long-term outcome. ( 29856000 )
2018
38
Pattern of Vascular Involvement in Egyptian Patients with Budd-Chiari Syndrome: Relation to Etiology and Impact on Clinical Presentation. ( 29893705 )
2018
39
Response to &amp;quot;Re: Treatment of Budd-Chiari Syndrome Complicated by Inferior Vena Cava Thrombosis: Individualised or Non-reproducible Strategy?&amp;quot; ( 29731249 )
2018
40
Living donor liver transplantation for adult Budd Chiari syndrome - Resection without replacement of retrohepatic IVC: A case report. ( 29216531 )
2018
41
Real-time shear wave elastography (SWE) assessment of short- and long-term treatment outcome in Budd-Chiari syndrome: A pilot study. ( 29847588 )
2018
42
Doppler ultrasound in the diagnosis of Budd-Chiari syndrome in children after split liver transplantation. ( 29853348 )
2018
43
Anatomic Recanalization of Hepatic Vein and Inferior Vena Cava versus Direct Intrahepatic Portosystemic Shunt Creation in Budd-Chiari Syndrome: Overall Outcome and Midterm Transplant-Free Survival. ( 29705227 )
2018
44
Prognostic scoring systems and outcome of endovascular radiological intervention of chronic Budd-Chiari syndrome in children. ( 29297972 )
2018
45
Budd-Chiari Syndrome and Esophageal Achalasia: Unrecognized Intrahepatic Cholangiocarcinoma Invading Multiple Organs. ( 29526953 )
2018
46
Successful Vascular Intervention Without Embolic Complications in Budd-Chiari Syndrome. ( 28592752 )
2018
47
Erythema Annulare Centrifugum in a Patient With Budd-Chiari Syndrome. ( 29459073 )
2018
48
Budd-Chiari syndrome in a patient with ulcerative colitis. ( 29472420 )
2018
49
An Individualised Strategy and Long-Term Outcomes of Endovascular Treatment of Budd-Chiari Syndrome Complicated by Inferior Vena Cava Thrombosis. ( 29478911 )
2018
50
Budd-Chiari Syndrome Diagnosed in a Patient Listed for Liver Transplant and Considered to be Contraindicated for the Operation. ( 29528017 )
2018

Variations for Budd-Chiari Syndrome

ClinVar genetic disease variations for Budd-Chiari Syndrome:

6 (show top 50) (show all 366)
# Gene Variation Type Significance SNP ID Assembly Location
1 F5 NM_000130.4(F5): c.1601G> A (p.Arg534Gln) single nucleotide variant risk factor rs6025 GRCh37 Chromosome 1, 169519049: 169519049
2 F5 NM_000130.4(F5): c.1601G> A (p.Arg534Gln) single nucleotide variant risk factor rs6025 GRCh38 Chromosome 1, 169549811: 169549811
3 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic rs77375493 GRCh37 Chromosome 9, 5073770: 5073770
4 JAK2 NM_004972.3(JAK2): c.1849G> T (p.Val617Phe) single nucleotide variant Pathogenic rs77375493 GRCh38 Chromosome 9, 5073770: 5073770
5 JAK2 NM_004972.3(JAK2): c.2171T> C (p.Ile724Thr) single nucleotide variant Uncertain significance rs372254348 GRCh37 Chromosome 9, 5080268: 5080268
6 JAK2 NM_004972.3(JAK2): c.2171T> C (p.Ile724Thr) single nucleotide variant Uncertain significance rs372254348 GRCh38 Chromosome 9, 5080268: 5080268
7 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Benign/Likely benign rs9332701 GRCh37 Chromosome 1, 169484767: 169484767
8 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Benign/Likely benign rs9332701 GRCh38 Chromosome 1, 169515529: 169515529
9 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Benign/Likely benign rs6009 GRCh37 Chromosome 1, 169498834: 169498834
10 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Benign/Likely benign rs6009 GRCh38 Chromosome 1, 169529596: 169529596
11 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Benign/Likely benign rs9332607 GRCh38 Chromosome 1, 169540995: 169540995
12 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Benign/Likely benign rs9332607 GRCh37 Chromosome 1, 169510233: 169510233
13 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Benign/Likely benign rs9287090 GRCh37 Chromosome 1, 169510380: 169510380
14 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Benign/Likely benign rs9287090 GRCh38 Chromosome 1, 169541142: 169541142
15 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Benign/Likely benign rs1046712 GRCh37 Chromosome 1, 169510475: 169510475
16 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Benign/Likely benign rs1046712 GRCh38 Chromosome 1, 169541237: 169541237
17 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Benign/Likely benign rs1800594 GRCh37 Chromosome 1, 169510524: 169510524
18 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Benign/Likely benign rs1800594 GRCh38 Chromosome 1, 169541286: 169541286
19 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Benign/Likely benign rs6032 GRCh37 Chromosome 1, 169511555: 169511555
20 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Benign/Likely benign rs6032 GRCh38 Chromosome 1, 169542317: 169542317
21 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Benign/Likely benign rs4525 GRCh37 Chromosome 1, 169511734: 169511734
22 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Benign/Likely benign rs4525 GRCh38 Chromosome 1, 169542496: 169542496
23 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Benign/Likely benign rs6018 GRCh37 Chromosome 1, 169511878: 169511878
24 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Benign/Likely benign rs6018 GRCh38 Chromosome 1, 169542640: 169542640
25 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Benign/Likely benign rs6031 GRCh37 Chromosome 1, 169511903: 169511903
26 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Benign/Likely benign rs6031 GRCh38 Chromosome 1, 169542665: 169542665
27 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Benign/Likely benign rs6021 GRCh37 Chromosome 1, 169512027: 169512027
28 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Benign/Likely benign rs6021 GRCh38 Chromosome 1, 169542789: 169542789
29 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Benign/Likely benign rs6024 GRCh37 Chromosome 1, 169512039: 169512039
30 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Benign/Likely benign rs6024 GRCh38 Chromosome 1, 169542801: 169542801
31 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Benign/Likely benign rs6017 GRCh38 Chromosome 1, 169542855: 169542855
32 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Benign/Likely benign rs6017 GRCh37 Chromosome 1, 169512093: 169512093
33 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Benign/Likely benign rs6016 GRCh37 Chromosome 1, 169512120: 169512120
34 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Benign/Likely benign rs6016 GRCh38 Chromosome 1, 169542882: 169542882
35 F5 NM_000130.4(F5): c.1926C> A (p.Thr642=) single nucleotide variant Benign/Likely benign rs6037 GRCh37 Chromosome 1, 169513583: 169513583
36 F5 NM_000130.4(F5): c.1926C> A (p.Thr642=) single nucleotide variant Benign/Likely benign rs6037 GRCh38 Chromosome 1, 169544345: 169544345
37 F5 NM_000130.4(F5): c.1716G> A (p.Glu572=) single nucleotide variant Benign/Likely benign rs6036 GRCh37 Chromosome 1, 169515726: 169515726
38 F5 NM_000130.4(F5): c.1716G> A (p.Glu572=) single nucleotide variant Benign/Likely benign rs6036 GRCh38 Chromosome 1, 169546488: 169546488
39 F5 NM_000130.4(F5): c.1380C> T (p.Asn460=) single nucleotide variant Benign/Likely benign rs6015 GRCh37 Chromosome 1, 169519894: 169519894
40 F5 NM_000130.4(F5): c.1380C> T (p.Asn460=) single nucleotide variant Benign/Likely benign rs6015 GRCh38 Chromosome 1, 169550656: 169550656
41 F5 NM_000130.4(F5): c.1238T> C (p.Met413Thr) single nucleotide variant Benign/Likely benign rs6033 GRCh37 Chromosome 1, 169521853: 169521853
42 F5 NM_000130.4(F5): c.1238T> C (p.Met413Thr) single nucleotide variant Benign/Likely benign rs6033 GRCh38 Chromosome 1, 169552615: 169552615
43 F5 NM_000130.4(F5): c.816C> T (p.Asn272=) single nucleotide variant Benign/Likely benign rs9332578 GRCh37 Chromosome 1, 169526020: 169526020
44 F5 NM_000130.4(F5): c.816C> T (p.Asn272=) single nucleotide variant Benign/Likely benign rs9332578 GRCh38 Chromosome 1, 169556782: 169556782
45 F5 NM_000130.4(F5): c.730+7C> T single nucleotide variant Benign/Likely benign rs6023 GRCh37 Chromosome 1, 169528384: 169528384
46 F5 NM_000130.4(F5): c.730+7C> T single nucleotide variant Benign/Likely benign rs6023 GRCh38 Chromosome 1, 169559146: 169559146
47 F5 NM_000130.4(F5): c.552G> T (p.Ser184=) single nucleotide variant Benign/Likely benign rs6022 GRCh37 Chromosome 1, 169529826: 169529826
48 F5 NM_000130.4(F5): c.552G> T (p.Ser184=) single nucleotide variant Benign/Likely benign rs6022 GRCh38 Chromosome 1, 169560588: 169560588
49 F5 NM_000130.4(F5): c.405G> A (p.Ala135=) single nucleotide variant Benign/Likely benign rs6029 GRCh37 Chromosome 1, 169529973: 169529973
50 F5 NM_000130.4(F5): c.405G> A (p.Ala135=) single nucleotide variant Benign/Likely benign rs6029 GRCh38 Chromosome 1, 169560735: 169560735

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 APOH CALR CD59 F2 F3 F5
2 cell surface GO:0009986 9.77 APOH CALR CD59 F3 PDGFRA
3 collagen-containing extracellular matrix GO:0062023 9.71 APOH CALR F3 SERPINC1
4 extracellular region GO:0005576 9.61 APOH CALR CD59 F2 F3 F5
5 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.5 CALR CD59 F5
6 serine-type peptidase complex GO:1905286 9.16 F3 F7
7 endoplasmic reticulum lumen GO:0005788 9.02 CALR F2 F5 F7 SERPINC1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.73 F3 F7 JAK2 PDGFRA
2 positive regulation of protein kinase B signaling GO:0051897 9.71 F3 F7 PDGFRA
3 ER to Golgi vesicle-mediated transport GO:0006888 9.71 CD59 F2 F5 F7
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.63 F2 JAK2 PDGFRA
5 platelet-derived growth factor receptor signaling pathway GO:0048008 9.55 JAK2 PDGFRA
6 blood coagulation, intrinsic pathway GO:0007597 9.52 APOH F2
7 positive regulation of positive chemotaxis GO:0050927 9.51 F3 F7
8 negative regulation of fibrinolysis GO:0051918 9.49 APOH F2
9 negative regulation of platelet activation GO:0010544 9.48 F2 PDGFRA
10 positive regulation of blood coagulation GO:0030194 9.43 APOH F2 F7
11 blood coagulation, extrinsic pathway GO:0007598 9.37 F3 F7
12 hemostasis GO:0007599 9.35 F2 F3 F5 F7 SERPINC1
13 regulation of blood coagulation GO:0030193 9.33 APOH F2 SERPINC1
14 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.32 F3 F7
15 blood coagulation GO:0007596 9.17 CD59 F2 F3 F5 F7 JAK2

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 APOH F2 SERPINC1

Sources for Budd-Chiari Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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