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mosaic variegated aneuploidy syndrome 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic variegated aneuploidy syndrome 4

MONDO:0859329

Overview

GeneticsAutosomal recessive · CENATAC (chr 11)

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 and Mild global developmental delay. 3 total HPO annotations.

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.

CENATAC encodes centrosomal AT-AC splicing factor (332 aa). Component of the minor spliceosome that promotes splicing of a specific, rare minor intron subtype. Negative regulator of centrosome duplication.

Mosaic variegated aneuploidy syndrome 4 is associated with mutations in the CENATAC gene on chromosome 11.

CENATAC is classified as a druggable target with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 2 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 4.

5 publications have been identified in PubMed for mosaic variegated aneuploidy syndrome 4. Research spans Review / Meta-Analysis (60%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Recent Publications

Viudes CP (2026). [PMID: 41700350](https://pubmed.ncbi.nlm.nih.gov/41700350/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Qu J (2025). [PMID: 40555658](https://pubmed.ncbi.nlm.nih.gov/40555658/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Norppa AJ (2025). [PMID: 39761998](https://pubmed.ncbi.nlm.nih.gov/39761998/). *RNA*. [Review / Meta-Analysis]
Powell-Rodgers G (2024). [PMID: 39149385](https://pubmed.ncbi.nlm.nih.gov/39149385/). *bioRxiv*. [Basic Science / Preclinical]
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, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620153

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 4

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

Questions for Your Care Team

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