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pancreatic agenesis 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pancreatic agenesis 1

MONDO:0024547

Also known as:PDX1 pancreatic agenesispancreatic agenesis caused by mutation in PDX1PAGEN1

Find Clinical TrialsTrials

Overview

Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.

GeneticsAutosomal recessive · PDX1 (chr 13)

OnsetNEONATAL

Clinical Trials1 registered

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: Oligohydramnios, Failure to thrive, Reduced C-peptide level, and Exocrine pancreatic insufficiency and others.

Organ System	Phenotype Count	Example Features
Digestive system	3	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia

Genetic Landscape

PDX1 function has not been fully characterized.

Pancreatic agenesis 1 is caused by mutations in the PDX1 gene on chromosome 13.

Diagnosis

Genetic testing for PDX1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pancreatic agenesis 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present 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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

217 publications have been identified in PubMed for pancreatic agenesis 1. Research spans Basic Science / Preclinical (28%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Laboratory research	60	28%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:260370

GARD

Genetic and Rare Diseases Info Center

GARD:15220

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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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pancreatic agenesis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

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pancreatic agenesis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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