Budd-chiari Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.

Genes related to Budd-chiari Syndrome

JAK2
F5

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Budd-chiari Syndrome

Neoplasm
Pain
Hypertension
Hepatomegaly
Fever
Splenomegaly
Abdominal pain
Weight loss
Jaundice
Elevated hepatic transaminase

And another 25 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available BUDD-CHIARI SYNDROME have a estimated prevalence of 1.5 per 100k worldwide.
— No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Budd-chiari Syndrome extracted from public data.

Budd-chiari Syndrome Experts map

Current Researchs and researchers

BARCELONA — Pr Juan Carlos GARCÍA PAGAN
Clinical expert - Manager of registry - Coordinator of research network
- Institution/s:
  — Instituto Clínic de Enfermedades Digestivas y Metabólicas, Hospital Clínic de Barcelona
  — Instituto Clínic de Enfermedades Digestivas y Metabólicas, Hospital Clínic de Barcelona
- Research area/topic::
  EN-Vie: Spanish network for vascular disorders of the liver

Budd-chiari Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
JAK2 Genotyping (V617F). By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). JAK2 Specificity 100 % Genes 50 %
JAK2 Exon 12 Sequencing. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). JAK2 Specificity 100 % Genes 50 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...) View the complete list with 32 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Specificity 2 % Genes 50 %
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA , (...) View the complete list with 31 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Specificity 2 % Genes 50 %
JAK2 V617F Quantitative Assay. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). JAK2 Specificity 100 % Genes 50 %
Thrombocytosis Panel by next generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). THPO, CALR, JAK2, MPL Specificity 25 % Genes 50 %
Erythrocytosis Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). BPGM, EGLN1, VHL, EPAS1, EPOR, HBA1, HBA2, HBB, JAK2 Specificity 12 % Genes 50 %
JAK2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). JAK2 Specificity 100 % Genes 50 %