Pancreatic agenesis 1: genes and variants
Pancreatic agenesis 1 is linked to 1 analyzed protein (PDX1). 4 DNA variants are known to cause it; 33 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Pancreatic agenesis 1
PDX1: Pancreas/duodenum homeobox protein 1
It directs pancreatic development and later maintains beta-cell identity and insulin transcription. Biallelic severe loss can cause pancreatic agenesis and neonatal diabetes, while heterozygous variants can cause maturity-onset diabetes of the young.
4 disease-causing and 33 uncertain variants in PDX1 are linked to Pancreatic agenesis 1.
Known disease-causing variants in Pancreatic agenesis 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PDX1 E178G | 178 | Homeobox | Disease-causing (★) |
| PDX1 E178K | 178 | Homeobox | Disease-causing (★) |
| PDX1 N168H | 168 | Homeobox | Disease-causing (★) |
| PDX1 E164D | 164 | Homeobox | Disease-causing |
Diseases related to Pancreatic agenesis 1
- Monogenic diabetes, also linked to PDX1
- Maturity-onset diabetes of the young, also linked to PDX1
- Type 2 diabetes mellitus, also linked to PDX1
- Diabetes mellitus, also linked to PDX1
Frequently asked questions
Which genes are linked to Pancreatic agenesis 1?
In CATVariant, Pancreatic agenesis 1 is linked to 1 analyzed protein: PDX1 (Pancreas/duodenum homeobox protein 1).
How many genetic variants are linked to Pancreatic agenesis 1?
37 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 33 are of uncertain significance or have conflicting reports.
Which uncertain variants in Pancreatic agenesis 1 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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