Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

pontocerebellar hypoplasia, type 16 (PCH16) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia, type 16

MONDO:0030438

Also known as:PCH16

Overview

GeneticsAutosomal recessive · MINPP1 (chr 10)

ResearchLimited published research (9 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: Delayed fine motor development, Nystagmus, Enlarged brain ventricles (ventriculomegaly), and Axial hypotonia and others; and very common findings: Seizure, Cerebral cortical atrophy, Skeletal muscle atrophy, and Sideways curvature of the spine (scoliosis) and others. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Seizure, Cerebral cortical atrophy, Delayed fine motor development

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.

MINPP1 encodes multiple inositol-polyphosphate phosphatase 1 (487 aa). Multiple inositol polyphosphate phosphatase that hydrolyzes 1D-myo-inositol 1,3,4,5,6-pentakisphosphate (InsP5[2OH]) and 1D-myo-inositol hexakisphosphate (InsP6) to a range of less phosphorylated inositol phosphates. Highest expression in Cells Cultured fibroblasts (34.1 TPM) and Adrenal Gland (24.9 TPM).

Pontocerebellar hypoplasia, type 16 is associated with mutations in the MINPP1 gene on chromosome 10.

The MINPP1 protein participates in Synthesis of IPs in the ER lumen pathway.

MINPP1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for MINPP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 5 very common 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 16.

9 publications have been identified in PubMed for pontocerebellar hypoplasia, type 16. Research spans Other (22%), Case Report / Case Series (22%), and Basic Science / Preclinical (22%).

Recent Publications

Drobňaková S (2026). [PMID: 42195294](https://pubmed.ncbi.nlm.nih.gov/42195294/). *Life (Basel)*. [Epidemiology / Natural History]
Škarica M (2025). [PMID: 40428407](https://pubmed.ncbi.nlm.nih.gov/40428407/). *Genes (Basel)*. [Review / Meta-Analysis]
van Noort SAM (2025). [PMID: 41427983](https://pubmed.ncbi.nlm.nih.gov/41427983/). *Cerebellum*. [Basic Science / Preclinical]
Shenoy PU (2025). [PMID: 41561974](https://pubmed.ncbi.nlm.nih.gov/41561974/). *Front Genet*. [Other]
Kutscher LM (2025). [PMID: 40471378](https://pubmed.ncbi.nlm.nih.gov/40471378/). *Cerebellum*. [Other]
Al-Maraghi A (2025). [PMID: 40508022](https://pubmed.ncbi.nlm.nih.gov/40508022/). *Int J Mol Sci*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619527

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?

← Back to All Diseases

pontocerebellar hypoplasia, type 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features