CEBPE gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CEBPE gene

Symptoms // Phenotype % Cases
Recurrent infections Very Common - Between 80% and 100% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Recurrent otitis media Uncommon - Between 30% and 50% cases
Hyposegmentation of neutrophil nuclei Uncommon - Between 30% and 50% cases
Myelofibrosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Fragile nails
  • Myelodysplasia
  • Recurrent bacterial infections
  • Chronic diarrhea
  • Nail dysplasia
  • Anemia
  • Neutropenia
  • Abnormality of the pinna

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CEBPE gene

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


RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY


Alternate names

RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY Is also known as neutrophil-specific granule deficiency

Description

Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017).For a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM ).

Most common symptoms of RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY

  • Global developmental delay
  • Anemia
  • Abnormality of the skeletal system
  • Diarrhea
  • Recurrent infections


More info about RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY

SOURCES: OMIM ORPHANET

SPECIFIC GRANULE DEFICIENCY 1; SGD1


Alternate names

SPECIFIC GRANULE DEFICIENCY 1; SGD1 Is also known as neutrophil lactoferrin deficiency, lactoferrin-deficient neutrophils

Most common symptoms of SPECIFIC GRANULE DEFICIENCY 1; SGD1

  • Recurrent infections
  • Hyposegmentation of neutrophil nuclei
  • Absent neutrophil specific granules


More info about SPECIFIC GRANULE DEFICIENCY 1; SGD1

SOURCES: OMIM


Potential gene panels for CEBPE gene

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

Defects of phagocytosis Panel Panel

Germany.

By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Phagocyte Defects Panel Panel

United States.

By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA

More info about this panel

CEBPE Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CEBPE gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

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


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