Molecular Subtype
Hematologic Neoplasm with Germline DDX41 Mutation
CI-CAN-00005466Explore in graph →
Hematologic
- NCIt
- C151901
Loading cancer entity…
Loading cancer entity…
Molecular Subtype
CI-CAN-00005466Explore in graph →
Data completeness0 / 7 dimensions
Computed from entity_counters.completeness · refreshed after each connector run
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)
Data updated 22 days agoSource updated 26.08e
Taxonomy
Several hierarchies coexist; edges are listed per hierarchy type with their source.
Parents
Children (0)
Leaf node — no children.
Anatomy
Data updated 1 hour agoSource updated unknowncounters aggregate over descendants
Names
Only the preferred name is recorded so far.
CancerIndex is a research and information platform. It does not diagnose and does not recommend treatment.
Key figures
Each figure carries its unit, period and source; ranks link to "Why this rank?".
No registry-level ancestor: burden figures are published for the mutually exclusive top-level site groups only, and this entity does not descend from one. Global figures (IARC / GLOBOCAN) stay under license review and SEER awaits credentials.
Data updated 1 hour agoSource updated unknownregistry figures: none · counters aggregate over descendants