Budd-chiari Syndrome

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.

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



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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
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
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 %

We have 179 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TUMOR PREDISPOSITION SYNDROME; TPDS X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 COFFIN-SIRIS SYNDROME 1; CSS1 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more