CEBPA gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CEBPA gene

Symptoms // Phenotype % Cases
Seizures Rare - less than 30% cases
Myeloid leukemia Rare - less than 30% cases
Pancytopenia Rare - less than 30% cases
Leukopenia Rare - less than 30% cases
Sarcoma Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with CEBPA gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% 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.

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Rare diseases associated to CEBPA gene

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


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

ACUTE MYELOID LEUKEMIA WITH T(8;21)(Q22;Q22) TRANSLOCATION


Alternate names

ACUTE MYELOID LEUKEMIA WITH T(8;21)(Q22;Q22) TRANSLOCATION Is also known as aml with t(8;21)(q22;q22) translocation


More info about ACUTE MYELOID LEUKEMIA WITH T(8;21)(Q22;Q22) TRANSLOCATION

SOURCES: ORPHANET

INHERITED ACUTE MYELOID LEUKEMIA


Alternate names

INHERITED ACUTE MYELOID LEUKEMIA Is also known as pure familial aml, familial aml, pure familial acute myeloid leukemia, inherited aml

Description

Inherited acute myeloid leukemia (AML) is a rare, malignant hematopologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis, etc.) and genetic defects predisposing to AML. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly, etc.). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present.


More info about INHERITED ACUTE MYELOID LEUKEMIA

SOURCES: ORPHANET

ACUTE MYELOID LEUKEMIA WITH CEBPA SOMATIC MUTATIONS


Alternate names

ACUTE MYELOID LEUKEMIA WITH CEBPA SOMATIC MUTATIONS Is also known as aml with cebpa somatic mutations

Description

Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).


More info about ACUTE MYELOID LEUKEMIA WITH CEBPA SOMATIC MUTATIONS

SOURCES: ORPHANET


Potential gene panels for CEBPA gene

Hereditary Leukemia/Lymphoma Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Hereditary Leukemia/Lymphoma Panel that also includes the following genes: RUNX1 BRCA2 TP53 CBL CEBPA SBDS BRIP1 PALB2 GATA2 ATM

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM

More info about this panel

MyeloidDx by NGS Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

MyeloidDx by NGS Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

CEBPA Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CEBPA gene.

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SRP72

More info about this panel

Hereditary Leukemia and Breast Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Leukemia and Breast Cancer Panel that also includes the following genes: RUNX1 BLM BRCA1 BRCA2 SRP72 TERC TERT TP53 IKZF1 SAMD9

More info about this panel

Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) that also includes the following genes: RUNX1 SRP72 TERC TERT TP53 IKZF1 SAMD9 SAMD9L RTEL1 CEBPA

More info about this panel

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

OncoRisk (NGS panel for 48 genes) Panel

Portugal.

By CGC Genetics OncoRisk (NGS panel for 48 genes) that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL

More info about this panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Acute Myeloid Leukemia (AML) via CEBPA Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CEBPA gene.

More info about this panel

Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 SRP72 TERC TERT TP53 SAMD9L CEBPA DDX41 ANKRD26 ETV6

More info about this panel

CEBPA, sequencing of coding region Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the CEBPA gene.

More info about this panel

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

CEBPA Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the CEBPA gene.

More info about this panel

Myeloid Tumor Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Myeloid Tumor Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

Leukemia, acute myeloid, somatic Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CEBPA gene.

More info about this panel

Leukemia, myeloid acute form Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CEBPA gene.

More info about this panel

Bone marrow failure syndromes with Leukemia Panel Panel

Germany.

By CeGaT GmbH Bone marrow failure syndromes with Leukemia Panel that also includes the following genes: RUNX1 CASP10 CEBPA GATA1 NBN

More info about this panel

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

CEBPA Mutation Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the CEBPA gene.

More info about this panel

NGS HemeOnc Panel Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti NGS HemeOnc Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 TP53 U2AF1 WT1 CBL SETBP1 PHF6 ASXL1

More info about this panel

AML Familial Evaluation Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the CEBPA gene.

More info about this panel

AML post-FLT3 Comprehensive Mutation Panel Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti AML post-FLT3 Comprehensive Mutation Panel that also includes the following genes: CEBPA DNMT3A IDH1 IDH2 NPM1

More info about this panel

AML Mutation Panel Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti AML Mutation Panel that also includes the following genes: CEBPA FLT3 NPM1

More info about this panel

AML Mutation Panel - Reflex Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti AML Mutation Panel - Reflex that also includes the following genes: CEBPA FLT3 NPM1

More info about this panel

Invitae Multi-Cancer Panel Panel

United States.

By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Invitae Familial Acute Myeloid Leukemia with Mutated CEBPA Test Panel

United States.

By Invitae

This panel specifically test the CEBPA gene.

More info about this panel

Invitae Pediatric Hematologic Malignancies Panel Panel

United States.

By Invitae Invitae Pediatric Hematologic Malignancies Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TP53 CEBPA GATA2 HRAS MLH1

More info about this panel

Invitae Myelodysplastic Syndrome/Leukemia Panel Panel

United States.

By Invitae Invitae Myelodysplastic Syndrome/Leukemia Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TP53 CEBPA GATA2 HRAS MLH1

More info about this panel

Acute myeloid leukemia: CEBPA mutations Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CEBPA gene.

More info about this panel

CEBPA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CEBPA gene.

More info about this panel

Hematologic Malignancy Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hematologic Malignancy Comprehensive Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TP53 CEBPA GATA2 HRAS MLH1

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Hereditary Leukemia Panel Panel

Finland.

By Blueprint Genetics Hereditary Leukemia Panel that also includes the following genes: RIT1 RUNX1 BLM BRAF BRCA1 BRCA2 SOS1 SRP72 EPCAM TERC

More info about this panel

Hereditary Pediatric Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Focus::Myeloid™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

Focus::Myeloid™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

Focus::MDS™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MDS™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TP53 U2AF1 KDM6A WT1 CBL

More info about this panel

Focus::MPN™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MPN™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 TP53 U2AF1 CALR CBL SETBP1 ASXL1 CEBPA

More info about this panel

Focus::AML™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::AML™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TP53 U2AF1 KDM6A WT1 CALR

More info about this panel

Hematopoietic Disorders Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1

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

Hereditary Cancer Comprehensive Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC

More info about this panel

Inherited Bone Marrow Failure Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26

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

Myeloid AML Targeted Panel?, Sequencing Panel

United States.

By Providence Regional Laboratories Providence Health and Services Myeloid AML Targeted Panel?, Sequencing that also includes the following genes: CEBPA FLT3 IDH1 IDH2 NPM1

More info about this panel

Acute Myeloid Leukemia , Sequencing CEBPA Gene in Bone Marrow Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CEBPA gene.

More info about this panel

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

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

Phosphorus Leukemia including Fanconi Anemia Genes Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Leukemia including Fanconi Anemia Genes Panel that also includes the following genes: RUNX1 BLM BRCA2 EPCAM TERC TERT TINF2 TP53 XRCC2 CEBPA

More info about this panel

Phosphorus Leukemia Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Leukemia Panel that also includes the following genes: RUNX1 BLM EPCAM TERC TERT TINF2 TP53 CEBPA DKC1 GATA2

More info about this panel

Phosphorus Pan-Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Phosphorus Pediatric Cancers Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM

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 Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel that also includes the following genes: RUNX1 BRAF TP53 ASXL1 CEBPA TET2 DNMT3A FLT3 ALK IDH1

More info about this panel


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