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mosaic variegated aneuploidy syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic variegated aneuploidy syndrome 2

MONDO:0013582

Also known as:CEP57 mosaic variegated aneuploidy syndromeMosaic variegated aneuploidy syndrome type 2mosaic variegated aneuploidy syndrome caused by mutation in CEP57

Overview

Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.

GeneticsAutosomal recessive · CEP57 (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: Short stature, Narrow mouth, Short nose, and Prominent forehead and others; and very common findings: Epicanthus and Small for gestational age. 48 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	5	Short stature, Severe intrauterine growth retardation, Decreased response to growth hormone stimulation test

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.

CEP57 encodes centrosomal protein 57 (500 aa). Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Highest expression in Cells EBV-transformed lymphocytes (46.5 TPM) and Testis (37.7 TPM).

Mosaic variegated aneuploidy syndrome 2 is caused by mutations in the CEP57 gene on chromosome 11.

CEP57 is classified as a druggable target (Clinically Actionable category) with score 0.0.

Diagnosis

Genetic testing for CEP57 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 25 always present features, 2 very common features, 12 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 2.

5 publications have been identified in PubMed for mosaic variegated aneuploidy syndrome 2. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Case Report / Case Series (20%).

Recent Publications

Viudes CP (2026). [PMID: 41700350](https://pubmed.ncbi.nlm.nih.gov/41700350/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Frattini A (2025). [PMID: 39392177](https://pubmed.ncbi.nlm.nih.gov/39392177/). *Am J Med Genet A*. [Review / Meta-Analysis]
Nakano Y (2024). [PMID: 39264246](https://pubmed.ncbi.nlm.nih.gov/39264246/). *Clin Cancer Res*. [Review / Meta-Analysis]
Yeh HW (2024). [PMID: 38857398](https://pubmed.ncbi.nlm.nih.gov/38857398/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Sukla S (2024). [PMID: 38699879](https://pubmed.ncbi.nlm.nih.gov/38699879/). *Proteins*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614114

GARD

Genetic and Rare Diseases Info Center

GARD:15758

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 2

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

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