Синдром схильності до гематологічних злоякісних новоутворень, повязаних з DDX41
ORPHA:488647· ICD-10 C96.7· DDX41-related hematologic malignancy predisposition syndrome
Визначення(English summary)
A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Multigenic/multifactorial
- Вік початку
- Adult, Elderly