Hematologic Neoplasm with Germline DDX41 Mutation

Preferred Label : Hematologic Neoplasm with Germline DDX41 Mutation;

NCIt definition : An autosomal dominant familial myelodysplastic syndrome/acute myeloid leukemia syndrome characterized by inherited mutations in the gene on chromosome 5 encoding the DEAD box RNA helicase DDX41. Patients usually present with leukopenia, hypocellular bone marrow with prominent erythroid dysplasia and a normal karyotype, often leading to erythroleukemia. The prognosis is generally poor. (WHO 2017);

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL553244;

Details

Origin ID

C151901;

UMLS CUI

C4726542;

Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Preexisting Condition [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Myeloid Cell [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_molecular_abnormality
- Germline DDX41 Gene Mutation [NCIt concept]
- Germline Variation [NCIt concept]
disease_has_normal_cell_origin
- Bone Marrow Stem Cell [NCIt concept]
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic Tissue [NCIt concept]
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- DDX41 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- DDX41 Gene [NCIt concept]
- DDX41 wt Allele [NCIt concept]
related_to_genetic_biomarker
- DDX41 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients