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tumor predisposition syndrome 2 (MANS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tumor predisposition syndrome 2

MONDO:0859267

Also known as:MANSMBD4-associated neoplasia syndromeMBD4-related recessive tumor predisposition syndrome

Overview

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.

GeneticsAutosomal dominant · MBD4 (chr 3)

ResearchLimited published research (7 articles)

Clinical Presentation

Features include always present findings: Adenomatous colonic polyposis; and common findings: Acute myeloid leukemia. 8 total HPO annotations.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MBD4 encodes methyl-CpG binding domain 4, DNA glycosylase (580 aa). Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Highest expression in Cells EBV-transformed lymphocytes (60.6 TPM) and Ovary (56.1 TPM).

Tumor predisposition syndrome 2 has been associated with mutations in the MBD4 gene on chromosome 3.

The MBD4 protein participates in Displacement of MBD4 glycosylase by APEX1 at the AP site, MBD4 glycosylase mediated recognition and binding of a thymine opposite to a guanine at CpG sequences, and MBD4 glycosylase mediated recognition and binding of an uracil opposite to a guanine at CpG sequences pathways.

MBD4 is classified as a druggable target (Dna Repair category) with score 26.1.

Diagnosis

Genetic testing for MBD4 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for tumor predisposition syndrome 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for tumor predisposition syndrome 2.

7 publications have been identified in PubMed for tumor predisposition syndrome 2. Research spans Review / Meta-Analysis (43%), Epidemiology / Natural History (29%), and Diagnostic / Biomarker (14%).

Recent Publications

Querido I (2026). [PMID: 40605265](https://pubmed.ncbi.nlm.nih.gov/40605265/). *Clinical genetics*. [Basic Science / Preclinical]
Johansson PA (2026). [PMID: 41673532](https://pubmed.ncbi.nlm.nih.gov/41673532/). *Pigment cell & melanoma research*. [Epidemiology / Natural History]
Maccio L (2026). [PMID: 41449215](https://pubmed.ncbi.nlm.nih.gov/41449215/). *Virchows Archiv : an international journal of pathology*. [Review / Meta-Analysis]
Joo JE (2025). [PMID: 40237887](https://pubmed.ncbi.nlm.nih.gov/40237887/). *Familial cancer*. [Review / Meta-Analysis]
Repo PE (2025). [PMID: 39344744](https://pubmed.ncbi.nlm.nih.gov/39344744/). *Pigment cell & melanoma research*. [Epidemiology / Natural History]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 7:24 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619975

Orphanet

European rare disease database

Orphanet:661526

Questions for Your Care Team

→Should I pursue genetic testing for MBD4, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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tumor predisposition syndrome 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team