Disease

Pancreatic agenesis 21, 2

Gene

PTF1A

Inheritance AR
Current Treatments Insulin, oral pancreatic enzymes
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test fecal elastase and pancreatic enzymes (pancreatic amylase and lipase) , imaging using abdominal ultrasonography, computed tomography, or magnetic resonance imaging3
Disease Frequency (per 100,000) 0.871
Genes Included in Disease Frequency ABCC8, GCK, INS, KCNJ11, SLC19A2, PDX1, GATA4, GATA6, PTF1A, EIF2AK3, GLIS3, RFX6, NEUROD1, NEUROG3, PAX4, WFS1, MNX1, NKX2-2, IER3IP1
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=ptf1a&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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