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DDX41-related hematologic malignancy predisposition syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.
Uniprot Description A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0014809:  DDX41-related hematologic malignancy predisposition syndrome
Orphanet:488647: