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pontocerebellar hypoplasia type 2E - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia type 2E

MONDO:0014370

Also known as:VPS53 non-syndromic pontocerebellar hypoplasianon-syndromic pontocerebellar hypoplasia caused by mutation in VPS53PCH2E

Overview

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.

GeneticsAutosomal recessive · VPS53 (chr 17)

OnsetJUVENILE, CHILDHOOD, INFANTILE

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: Epicanthus, Hypertonia, Narrow forehead, and Strabismus and others; and common findings: Failure to thrive, Enlarged brain ventricles (ventriculomegaly), Damage to the optic nerve (optic atrophy), and Sudden, brief involuntary muscle jerks (myoclonus). 36 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Profound intellectual disability, Myoclonic seizure, Irritability

Genetic Landscape

VPS53 function has not been fully characterized.

Pontocerebellar hypoplasia type 2E is associated with mutations in the VPS53 gene on chromosome 17.

Diagnosis

Genetic testing for VPS53 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pontocerebellar hypoplasia type 2E has been reported in the published literature.

Prognosis

Phenotype severity distribution: 21 always present features, 4 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 pontocerebellar hypoplasia type 2E.

2 publications have been identified in PubMed for pontocerebellar hypoplasia type 2E. Research spans Diagnostic / Biomarker (50%) and Case Report / Case Series (50%).

Recent Publications

Mouchez A (2025). [PMID: 39842660](https://pubmed.ncbi.nlm.nih.gov/39842660/). *Eur J Med Genet*. [Case Report / Case Series]
Hou H (2025). [PMID: 40593860](https://pubmed.ncbi.nlm.nih.gov/40593860/). *NPJ Genom Med*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615851

GARD

Genetic and Rare Diseases Info Center

GARD:18348

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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pontocerebellar hypoplasia type 2E

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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