Details of Disease

General Information of Disease (ID: DISU6FRL)

Disease Name DDX41-related hematologic malignancy predisposition syndrome
Synonyms
susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms; DDX41 hereditary neoplastic syndrome; DDX41-related hematologic malignancy predisposition syndrome; hereditary neoplastic syndrome caused by mutation in DDX41; myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to; MPLPF
Definition Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.
Disease Hierarchy
DISGXLG5: Hereditary neoplastic syndrome
DISU6FRL: DDX41-related hematologic malignancy predisposition syndrome
Disease Identifiers
MONDO ID
MONDO_0014809
UMLS CUI
C4225174
OMIM ID
616871
MedGen ID
895780
Orphanet ID
488647

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DDX41 OT6KEIHP Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.