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mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition

MONDO:0859346

Overview

GeneticsAutosomal recessive · MAD1L1 (chr 7)

ResearchLimited published research (2 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: Narrow forehead, Nevus, Microcephaly, and Pilomatrixoma and others.

Organ System	Phenotype Count	Example Features
Head and neck	1	Microcephaly
Brain and nerves

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.

MAD1L1 encodes mitotic arrest deficient 1 like 1 (718 aa). Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Highest expression in Testis (18.9 TPM) and Cells EBV-transformed lymphocytes (16.0 TPM).

Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition is associated with mutations in the MAD1L1 gene on chromosome 7.

MAD1L1 is classified as a druggable target with score 0.6.

Diagnosis

Genetic testing for MAD1L1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 19 always present 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 7 with inflammation and tumor predisposition.

2 publications have been identified in PubMed for mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Battaglia L (2025). [PMID: 40290267](https://pubmed.ncbi.nlm.nih.gov/40290267/). *Ther Adv Rare Dis*. [Case Report / Case Series]
Karbon G (2024). [PMID: 38806674](https://pubmed.ncbi.nlm.nih.gov/38806674/). *EMBO Rep*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620189

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 7 with inflammation and tumor predisposition

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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