pancreatic agenesis 1
MONDO:0024547Mondo
Findings
No curated finding names pancreatic agenesis 1 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 PDX1 gene.
Definition from the Mondo Disease Ontology (MONDO:0024547), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
8 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.
- Decreased circulating C-peptide concentrationHPOHP:0030795
- 1 of 1 reported patient
- Exocrine pancreatic insufficiencyHPOHP:0001738
- 1 of 1 reported patient · Neonatal onset
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients
- Neonatal insulin-dependent diabetes mellitusHPOHP:0000857
- 1 of 1 reported patient · Neonatal onset
- 1 of 1 reported patient
- OligohydramniosHPOHP:0001562
- 1 of 1 reported patient
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.
- PDX1HGNC:6107
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: pancreatic agenesis 1
- Also called
- pancreatic agenesis caused by mutation in PDX1PDX1 pancreatic agenesis