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pancreatic agenesis 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pancreatic agenesis 2

MONDO:0014406

Also known as:PTF1A pancreatic agenesispancreatic agenesis caused by mutation in PTF1Apancreatic agenesis type 2

Overview

Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.

GeneticsAutosomal recessive · PTF1A (chr 10)

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: Diabetes mellitus and Exocrine pancreatic insufficiency; and common findings: Pancreatic hypoplasia and Pancreatic aplasia. 7 total HPO annotations.

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

Genetic Landscape

PTF1A function has not been fully characterized.

Pancreatic agenesis 2 is associated with mutations in the PTF1A gene on chromosome 10.

Diagnosis

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

Biomarker and diagnostic research for pancreatic agenesis 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 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 pancreatic agenesis 2.

230 publications have been identified in PubMed for pancreatic agenesis 2. Kisho has analyzed 141 by research type. Research spans Review / Meta-Analysis (30%), Basic Science / Preclinical (25%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Research summaries	43	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615935

GARD

Genetic and Rare Diseases Info Center

GARD:16033

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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pancreatic agenesis 2

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 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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