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

permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

MONDO:0012192

Also known as:pancreatic and cerebellar agenesisdiabetes mellitus, permanent neonatal, with cerebellar agenesispaca

Overview

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

GeneticsAutosomal recessive · PTF1A (chr 10)

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: Flexion contracture, Hyperglycemia, Cerebellar agenesis, and Pancreatic aplasia and others; and sometimes findings: Secundum atrial septal defect, Overlapping fingers, and Pectus carinatum. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Seizure, Hyporeflexia

Genetic Landscape

PTF1A function has not been fully characterized.

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is associated with mutations in the PTF1A gene on chromosome 10.

Diagnosis

Genetic testing for PTF1A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present 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 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome.

3 publications have been identified in PubMed for permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Gobble MRS (2025). [PMID: 40128490](https://pubmed.ncbi.nlm.nih.gov/40128490/). *Curr Diab Rep*. [Review / Meta-Analysis]
Paksaz M (2025). [PMID: 40443916](https://pubmed.ncbi.nlm.nih.gov/40443916/). *Int J Endocrinol Metab*. [Case Report / Case Series]
Barbetti F (2024). [PMID: 39344692](https://pubmed.ncbi.nlm.nih.gov/39344692/). *J Diabetes Investig*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609069

Orphanet

European rare disease database

Orphanet:65288

GARD

Genetic and Rare Diseases Info Center

GARD:16670

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

permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features