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pontocerebellar hypoplasia type 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia type 8

MONDO:0013990

Also known as:CHMP1A non-syndromic pontocerebellar hypoplasiaPCH8non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A

Overview

A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

GeneticsAutosomal recessive · CHMP1A (chr 16)

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 and Reduced cerebral white matter volume; and very common findings: Hypoplasia of the corpus callosum and Cerebellar hypoplasia. 48 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Poor speech, Gait ataxia, Intellectual disability

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.

CHMP1A encodes charged multivesicular body protein 1A (196 aa). Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. Highest expression in Testis (136.4 TPM) and Esophagus Mucosa (107.9 TPM).

Pontocerebellar hypoplasia type 8 is associated with mutations in the CHMP1A gene on chromosome 16.

The CHMP1A protein participates in HCMV Final Envelopment pathway.

CHMP1A is classified as a druggable target (Druggable Genome, Enzyme, and Neutral Zinc Metallopeptidase categories) with score 0.0.

Diagnosis

Genetic testing for CHMP1A is available. Testing is considered confirmatory for diagnosis.

Prognosis

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

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 8.

10 publications have been identified in PubMed for pontocerebellar hypoplasia type 8. Research spans Case Report / Case Series (40%), Epidemiology / Natural History (30%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	4	40%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 10:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614961

Orphanet

European rare disease database

Orphanet:324569

GARD

Genetic and Rare Diseases Info Center

GARD:17488

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 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pontocerebellar hypoplasia type 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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