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pontocerebellar hypoplasia, type 1F (PCH1F) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia, type 1F

MONDO:0030261

Also known as:PCH1F

Overview

GeneticsAutosomal recessive · EXOSC1 (chr 10)

ResearchLimited published research (4 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: Hyporeflexia, Brain shrinkage (cerebral atrophy), Microcephaly, and Delayed CNS myelination and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Hyporeflexia, Brain shrinkage (cerebral atrophy), Global developmental delay

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.

EXOSC1 encodes exosome component 1 (195 aa). Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. Highest expression in Cells EBV-transformed lymphocytes (55.5 TPM) and Cells Cultured fibroblasts (43.7 TPM).

Pontocerebellar hypoplasia, type 1F is associated with mutations in the EXOSC1 gene on chromosome 10.

EXOSC1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for EXOSC1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 20 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 pontocerebellar hypoplasia, type 1F.

4 publications have been identified in PubMed for pontocerebellar hypoplasia, type 1F. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

Higginson LA (2026). [PMID: 41417727](https://pubmed.ncbi.nlm.nih.gov/41417727/). *Cell reports*. [Basic Science / Preclinical]
Chen YM (2025). [PMID: 41461674](https://pubmed.ncbi.nlm.nih.gov/41461674/). *Scientific reports*. [Basic Science / Preclinical]
Xie HQ (2025). [PMID: 39844501](https://pubmed.ncbi.nlm.nih.gov/39844501/). *Zhonghua er ke za zhi = Chinese journal of pediatrics*. [Case Report / Case Series]
Cavusoglu D (2024). [PMID: 38622473](https://pubmed.ncbi.nlm.nih.gov/38622473/). *Cerebellum (London, England)*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619304

GARD

Genetic and Rare Diseases Info Center

GARD:16442

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 1F

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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