CBFB gene related symptoms and diseases

All the information presented here about the CBFB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CBFB gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Myeloid leukemia Uncommon - Between 30% and 50% cases
Pancytopenia Uncommon - Between 30% and 50% cases
Leukopenia Uncommon - Between 30% and 50% cases
Sarcoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CBFB gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Myelodysplasia
  • Menorrhagia
  • Petechiae
  • Acute myeloid leukemia
  • Bruising susceptibility
  • Neuroblastoma
  • Gingival bleeding
  • Ecchymosis

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to CBFB gene

Here you will find a list of rare diseases related to the CBFB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ACUTE MYELOID LEUKEMIA WITH ABNORMAL BONE MARROW EOSINOPHILS INV(16)(P13Q22) OR T(16;16)(P13;Q22)


Alternate names

ACUTE MYELOID LEUKEMIA WITH ABNORMAL BONE MARROW EOSINOPHILS INV(16)(P13Q22) OR T(16;16)(P13;Q22) Is also known as aml with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)


More info about ACUTE MYELOID LEUKEMIA WITH ABNORMAL BONE MARROW EOSINOPHILS INV(16)(P13Q22) OR T(16;16)(P13;Q22)

SOURCES: ORPHANET

LEUKEMIA, ACUTE MYELOID; AML


Alternate names

LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Most common symptoms of LEUKEMIA, ACUTE MYELOID; AML

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


More info about LEUKEMIA, ACUTE MYELOID; AML

SOURCES: OMIM ORPHANET


Potential gene panels for CBFB gene

Myeloid leukemia, acute, M4/M4Eo subtype, somatic (sequence analysis of CBFB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CBFB gene.

More info about this panel

RT-PCR t/inv(16)(CBFB/MYH11) Panel

Portugal.

By CGC Genetics RT-PCR t/inv(16)(CBFB/MYH11) that also includes the following genes: CBFB MYH11

More info about this panel

CFBF/MYH11 quantification Panel

Portugal.

By CGC Genetics CFBF/MYH11 quantification that also includes the following genes: CBFB MYH11

More info about this panel

Leukemia, myeloid acute form Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CBFB gene.

More info about this panel

Fluorescent in situ Hybridization - Hematopathology Panel

United States.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA Fluorescent in situ Hybridization - Hematopathology that also includes the following genes: BCL6 BCR RUNX1 ABI1 TCF3 TP53 DLEU1 CRLF2 RUNX1T1 CBFB

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

CBFB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CBFB gene.

More info about this panel

Onco microarray for MDS/AML Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes Panel

Spain.

By Reference Laboratory Genetics Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes that also includes the following genes: RUNX1 SH3GL1 TERC TERT TP53 WT1 NSD1 CBFB PICALM ASXL1

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

CEN4GEN Breast cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Breast cancer: Extended gene sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 TRAF5 WEE1 PCGF2 KMT2C ITCH CBFB MUC16

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PLAA NHEJ1 DDRGK1 ATRX ACP4

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more