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pontocerebellar hypoplasia, type 1E (PCH1E) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia, type 1E

MONDO:0030260

Also known as:PCH1E

Overview

GeneticsAutosomal recessive · SLC25A46 (chr 5)

OnsetANTENATAL, NEONATAL

ResearchLimited published research (3 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: Cerebellar hypoplasia, Severe global developmental delay, Hypoplasia of the pons, and Respiratory failure requiring assisted ventilation; and common findings: Polyhydramnios, Shrinkage of the cerebellum (cerebellar atrophy), Nerve damage affecting sensation and movement (sensorimotor neuropathy), and Damage to the optic nerve (optic atrophy) and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5

Genetic Landscape

SLC25A46 function has not been fully characterized.

Pontocerebellar hypoplasia, type 1E is associated with mutations in the SLC25A46 gene on chromosome 5.

Diagnosis

Genetic testing for SLC25A46 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 5 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 1E.

3 publications have been identified in PubMed for pontocerebellar hypoplasia, type 1E. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Reynier P (2026). [PMID: 41640504](https://pubmed.ncbi.nlm.nih.gov/41640504/). *Neuroophthalmology*. [Case Report / Case Series]
Garone C (2025). [PMID: 40994010](https://pubmed.ncbi.nlm.nih.gov/40994010/). *Mol Ther*. [Review / Meta-Analysis]
Zhou X (2024). [PMID: 39091855](https://pubmed.ncbi.nlm.nih.gov/39091855/). *bioRxiv*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619303

GARD

Genetic and Rare Diseases Info Center

GARD:16441

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 1E

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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