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GTR Home > Conditions/Phenotypes > Tumor predisposition syndrome 2

Tumor predisposition syndrome 2

Synonyms
MBD4-ASSOCIATED NEOPLASIA SYNDROME

Summary

Tumor predisposition syndrome-2 (TPDS2) is an 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, although other tumors and malignancies have been reported (summary by Palles et al., 2022). For a discussion of genetic heterogeneity of TPDS, see TPDS1 (614327). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MED1, TPDS2, UVM1, MBD4
    Summary: methyl-CpG binding domain 4, DNA glycosylase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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