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pontocerebellar hypoplasia type 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pontocerebellar hypoplasia type 9

MONDO:0014351

Also known as:AMPD2 non-syndromic pontocerebellar hypoplasiaPCH9non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2

Overview

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.

GeneticsAutosomal recessive · AMPD2 (chr 1)

ResearchLimited published research (5 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: Hypoplasia of the pons, Irritability, Intellectual disability, and Overactive reflexes (hyperreflexia) and others; and very common findings: Hypertonia, Difficulty swallowing (dysphagia), and Visual fixation instability. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Peripheral axonal neuropathy, Clonus, Dystonia

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.

AMPD2 encodes adenosine monophosphate deaminase 2 (825 aa). AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle Highest expression in Pituitary (138.4 TPM) and Brain Nucleus accumbens basal ganglia (73.0 TPM).

Pontocerebellar hypoplasia type 9 is associated with mutations in the AMPD2 gene on chromosome 1.

The AMPD2 protein participates in AMP + H2O = IMP + NH4+ (AMPD) pathway.

AMPD2 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 4.7.

Diagnosis

Genetic testing for AMPD2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 3 very common features, 7 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 9.

5 publications have been identified in PubMed for pontocerebellar hypoplasia type 9. Research spans Case Report / Case Series (60%) and Review / Meta-Analysis (40%).

Recent Publications

Dohi S (2026). [PMID: 42026036](https://pubmed.ncbi.nlm.nih.gov/42026036/). *Hum Genome Var*. [Case Report / Case Series]
Peker A (2026). [PMID: 42115434](https://pubmed.ncbi.nlm.nih.gov/42115434/). *Cerebellum*. [Case Report / Case Series]
Kukulka NA (2025). [PMID: 40936650](https://pubmed.ncbi.nlm.nih.gov/40936650/). *Brain Commun*. [Review / Meta-Analysis]
Munera V (2024). [PMID: 38957830](https://pubmed.ncbi.nlm.nih.gov/38957830/). *Cureus*. [Case Report / Case Series]
Abdelrahman HA (2024). [PMID: 39086442](https://pubmed.ncbi.nlm.nih.gov/39086442/). *J Pediatr Genet*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:09 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615809

Orphanet

European rare disease database

Orphanet:369920

GARD

Genetic and Rare Diseases Info Center

GARD:17590

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 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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