Autoimmune pancreatitis type 1

Summary

Autoimmune pancreatitis type 1 (MONDO:0017227) is a disease with 1 GWAS associations across 1 studies and 1 clinical trial. A subtype of chronic pancreatitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• GWAS associations: 1
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	autoimmune pancreatitis type 1
Mondo ID	MONDO:0017227
EFO	EFO:1000780
Orphanet	280302
SNOMED CT	722872000
UMLS	C4302243
MedGen	927912
GARD	0021076
Is cancer (heuristic)	no

Also known as: AIP type 1 · autoimmune pancreatitis type 1 · IgG4-related pancreatitis · lymphoplasmacytic sclerosing pancreatitis

Data availability: 1 GWAS association (1 study).

Disease family

This is a subtype of chronic pancreatitis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › pancreas disorder › pancreatitis › chronic pancreatitis › autoimmune pancreatitis type 1

Related subtypes (2): hereditary chronic pancreatitis, idiopathic chronic pancreatitis

Genetics & variants

GWAS landscape

1 GWAS associations across 1 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs144612032	5e-08	UBDP1 - MAS1LP1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90728623	Zhang YO	2025	457	2,659	IgG4-related disease in the Japanese population: a whole-genome sequencing study.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs144612032	6	29472743	G>A,T		intergenic_variant	UBDP1 - MAS1LP1	5e-08	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06328101	Not specified	UNKNOWN	Autoimmune Pancreatitis, Pancreatic and Extrapancreatic cAnceR (AiPPEAR)