Partial pancreatic agenesis

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Partial pancreatic agenesis

ORPHA:2805Morphological anomaly

Also called Congenital pancreatic agenesis · Partial agenesis of the pancreas

What it is

Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Morphological anomaly

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

PDX1Disease-causing germline mutation(s)
PTF1ADisease-causing germline mutation(s)

ICD-10 codes

Q45.0filed under a broader ICD-10 category

Cross-references

GARD 4203OMIM 167755OMIM 260370OMIM 615935UMLS C4305001

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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