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Tumor predisposition syndrome 2
rareAn autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. The most common clinical manifestations include acute myeloid leukemia (AML), myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma.
- Identifiers
- MONDO:0859267 OMIM:619975Orphanet:661526
- Causal genes
- MBD4
- Part of
- Hereditary neoplastic syndrome
- Also known as
- MANS · MBD4-associated neoplasia syndrome · MBD4-related recessive tumor predisposition syndrome · TPDS2
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