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mosaic variegated aneuploidy syndrome 3 (MVA3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic variegated aneuploidy syndrome 3

MONDO:0054736

Also known as:MVA3

Overview

GeneticsAutosomal recessive · TRIP13 (chr 5)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Short stature, Premature chromatid separation, and Nephroblastoma; and common findings: Microcephaly, Global developmental delay, and Growth delay. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft palate, Microcephaly

Genetic Landscape

TRIP13 function has not been fully characterized.

Mosaic variegated aneuploidy syndrome 3 is associated with mutations in the TRIP13 gene on chromosome 5.

Diagnosis

Genetic testing for TRIP13 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 3 common features.

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 mosaic variegated aneuploidy syndrome 3.

4 publications have been identified in PubMed for mosaic variegated aneuploidy syndrome 3. Research spans Review / Meta-Analysis (75%) and Case Report / Case Series (25%).

Recent Publications

Vempuluru VS (2026). [PMID: 42595739](https://pubmed.ncbi.nlm.nih.gov/42595739/). *Orbit*. [Case Report / Case Series]
Frattini A (2025). [PMID: 39392177](https://pubmed.ncbi.nlm.nih.gov/39392177/). *Am J Med Genet A*. [Review / Meta-Analysis]
Cheng P (2025). [PMID: 40333415](https://pubmed.ncbi.nlm.nih.gov/40333415/). *Annu Rev Genomics Hum Genet*. [Review / Meta-Analysis]
Nakano Y (2024). [PMID: 39264246](https://pubmed.ncbi.nlm.nih.gov/39264246/). *Clin Cancer Res*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617598

GARD

Genetic and Rare Diseases Info Center

GARD:16240

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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mosaic variegated aneuploidy syndrome 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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