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pontocerebellar hypoplasia, type 1C - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia, type 1C

MONDO:0014485

Also known as:EXOSC8 pontocerebellar hypoplasia type 1pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8PCH1C

Overview

Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.

GeneticsAutosomal recessive · EXOSC8 (chr 13)

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: Global developmental delay, Difficulty breathing (respiratory insufficiency), and Respiratory failure; and very common findings: Hearing loss (hearing impairment) and Visual impairment. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	6	Skeletal muscle atrophy, Cerebral cortical atrophy, Joint contracture

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.

EXOSC8 encodes exosome component 8 (276 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 (60.2 TPM) and Testis (43.8 TPM).

Pontocerebellar hypoplasia, type 1C is associated with mutations in the EXOSC8 gene on chromosome 13.

EXOSC8 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for EXOSC8 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 2 very common features, 8 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 1C.

3 publications have been identified in PubMed for pontocerebellar hypoplasia, type 1C. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Škarica M (2025). [PMID: 40428407](https://pubmed.ncbi.nlm.nih.gov/40428407/). *Genes (Basel)*. [Review / Meta-Analysis]
Sharifi S (2025). [PMID: 41069053](https://pubmed.ncbi.nlm.nih.gov/41069053/). *Ann Indian Acad Neurol*. [Case Report / Case Series]
Bressman ZJ (2025). [PMID: 40045779](https://pubmed.ncbi.nlm.nih.gov/40045779/). *Philos Trans R Soc Lond B Biol Sci*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616081

GARD

Genetic and Rare Diseases Info Center

GARD:16058

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 1C

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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