pancreatic agenesis 2
MONDO:0014406Mondo
Findings
No curated finding names pancreatic agenesis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.
Definition from the Mondo Disease Ontology (MONDO:0014406), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Young adult onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Diabetes mellitusHPOHP:0000819
- 14 of 14 reported patients
- Exocrine pancreatic insufficiencyHPOHP:0001738
- 14 of 14 reported patients
- Pancreatic hypoplasiaHPOHP:0002594
- 5 of 9 reported patients
- Pancreatic aplasiaHPOHP:0100801
- 4 of 9 reported patients
- Mild global developmental delayHPOHP:0011342
- 1 of 14 reported patients
- Small for gestational ageHPOHP:0001518
- SteatorrheaHPOHP:0002570
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PTF1AHGNC:23734
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: pancreatic agenesis 2
- Also called
- pancreatic agenesis caused by mutation in PTF1Apancreatic agenesis type 2PTF1A pancreatic agenesis