DDX41 gene related symptoms and diseases

All the information presented here about the DDX41 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 DDX41 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Myelodysplasia Very Common - Between 80% and 100% cases
Chronic myelomonocytic leukemia Very Common - Between 80% and 100% cases
Monocytosis Very Common - Between 80% and 100% cases
Refractory anemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DDX41 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Acute monocytic leukemia
  • Immune dysregulation
  • Acute myeloid leukemia
  • Myeloid leukemia
  • Systemic lupus erythematosus
  • Anemia
  • Melanoma
  • Leukopenia

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DDX41 gene

Here you will find a list of rare diseases related to the DDX41. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME


Description

Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS ) and/or acute myeloid leukemia (AML ). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).

Most common symptoms of DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME

  • Neoplasm
  • Anemia
  • Arthritis
  • Leukemia
  • Asthma


More info about DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for DDX41 gene

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

Familial Myeloproliferative/lymphoproliferative Neoplasms Panel

Australia.

By Genetic Pathology SA Pathology

This panel specifically test the DDX41 gene.

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

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

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

Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) via DDX41 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DDX41 gene.

More info about this panel

DDX41 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DDX41 gene.

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

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

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


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