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mosaic variegated aneuploidy syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic variegated aneuploidy syndrome 1

MONDO:0009759

Also known as:BUB1B mosaic variegated aneuploidy syndromeMosaic variegated aneuploidy syndrome type 1mosaic variegated aneuploidy syndrome caused by mutation in BUB1B

Overview

Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.

GeneticsAutosomal recessive · BUB1B (chr 15)

ResearchLimited published research (5 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: Microcephaly, Small for gestational age, and Intrauterine growth retardation; and sometimes findings: Seizure, Cerebral hypoplasia, Pulmonic stenosis, and Embryonal rhabdomyosarcoma and others. 57 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Bilateral tonic-clonic seizure, Seizure, Profound intellectual disability

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.

BUB1B encodes BUB1 mitotic checkpoint serine/threonine kinase B (1,050 aa). Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. Highest expression in Cells EBV-transformed lymphocytes (71.1 TPM) and Testis (46.8 TPM).

Mosaic variegated aneuploidy syndrome 1 is caused by mutations in the BUB1B gene on chromosome 15.

BUB1B is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 8.7.

Diagnosis

Genetic testing for BUB1B is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 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 1.

5 publications have been identified in PubMed for mosaic variegated aneuploidy syndrome 1. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Case Report / Case Series (20%).

Recent Publications

Pun R (2025). [PMID: 40055864](https://pubmed.ncbi.nlm.nih.gov/40055864/). *J Am Heart Assoc*. [Basic Science / Preclinical]
Qu J (2025). [PMID: 40555658](https://pubmed.ncbi.nlm.nih.gov/40555658/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Cheng P (2025). [PMID: 40333415](https://pubmed.ncbi.nlm.nih.gov/40333415/). *Annu Rev Genomics Hum Genet*. [Review / Meta-Analysis]
Silva MP (2024). [PMID: 39014450](https://pubmed.ncbi.nlm.nih.gov/39014450/). *J Biomed Sci*. [Basic Science / Preclinical]
Esposito M (2024). [PMID: 38664248](https://pubmed.ncbi.nlm.nih.gov/38664248/). *Int J Legal Med*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:257300

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 1

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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