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

Rare Disease

pontocerebellar hypoplasia type 1A

MONDO:0011866

Also known as:VRK1 non-syndromic pontocerebellar hypoplasianon-syndromic pontocerebellar hypoplasia caused by mutation in VRK1PCH1A

Overview

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.

GeneticsAutosomal recessive · VRK1 (chr 14)

ResearchLimited published research (6 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: Sleep disturbance, Ataxia, Fasciculations, and Enlarged cisterna magna and others; and very common findings: Global developmental delay. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	16	Mild intellectual disability, Cerebral cortical atrophy, Ataxia

Genetic Landscape

VRK1 function has not been fully characterized.

Pontocerebellar hypoplasia type 1A is associated with mutations in the VRK1 gene on chromosome 14.

Diagnosis

Genetic testing for VRK1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 1 very common feature, 14 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 1A.

6 publications have been identified in PubMed for pontocerebellar hypoplasia type 1A. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (17%).

Recent Publications

Higginson LA (2026). [PMID: 41417727](https://pubmed.ncbi.nlm.nih.gov/41417727/). *Cell Rep*. [Basic Science / Preclinical]
Škarica M (2025). [PMID: 40428407](https://pubmed.ncbi.nlm.nih.gov/40428407/). *Genes (Basel)*. [Review / Meta-Analysis]
Xie HQ (2025). [PMID: 39844501](https://pubmed.ncbi.nlm.nih.gov/39844501/). *Zhonghua Er Ke Za Zhi*. [Case Report / Case Series]
Tamhankar PM (2025). [PMID: 40182349](https://pubmed.ncbi.nlm.nih.gov/40182349/). *Cureus*. [Case Report / Case Series]
Mercan M (2025). [PMID: 40085521](https://pubmed.ncbi.nlm.nih.gov/40085521/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607596

GARD

Genetic and Rare Diseases Info Center

GARD:15416

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 1A

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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