Sialadenitis

Summary

Sialadenitis (MONDO:0006969) is a disease with 9 GWAS associations across 7 studies and 1 clinical trial. Top therapeutic interventions include rituximab. A subtype of salivary gland disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 9
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	sialadenitis
Mondo ID	MONDO:0006969
EFO	EFO:1001179
MeSH	D012793
DOID	DOID:10303
ICD-10-CM	K11.2
NCIT	C115165, C26882
SNOMED CT	42982001
UMLS	C0037023
MedGen	48657
MedDRA	10040627
Anatomy (UBERON)	UBERON:0001044
Is cancer (heuristic)	no

Also known as: adenitis, salivary gland · lymphadenitis (disease) of saliva-secreting gland · saliva-secreting gland lymphadenitis (disease) · salivary gland inflammation · sialitis · sialoadenitis

Data availability: 9 GWAS associations (7 studies).

Disease family

This is a subtype of salivary gland disorder. 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 › mouth disorder › salivary gland disorder › sialadenitis

Related subtypes (8): submandibular gland disorder, benign lymphoepithelial lesion of salivary gland, mucocele of salivary gland, parotid disorder, necrotizing sialometaplasia, sialolithiasis, Sjogren syndrome, tumor of salivary gland

Subtypes (2): submandibular adenitis, xanthogranulomatous sialadenitis

Genetics & variants

GWAS landscape

9 GWAS associations across 7 studies. Top hits map to 7 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs577531651	1e-13	ZNF3	C	3.77
rs111504352	2e-12	LINC03142 - SUMO2P2	C	2.44
rs576990442	2e-12	BCO1	G	3.02
rs370265927	7e-12	VEPH1	A	3.04
rs529204084	8e-12	EPB41L2	T	3.29
rs372229555	1e-11	LHFPL2	A	3.88
rs140691871	1e-11	RCAN2-DT	T	3.99
rs186288708	4e-11	ADAM12	C	2.63
rs142111105	2e-07	RNU6-259P - LINC01941	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90478299	Verma A	2024	1,651	447,070	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90652009	Liu TY	2025	660	215,085	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90478298	Verma A	2024	572	120,485	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480283	Verma A	2024	572	120,485	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436285	Zhou W	2018	366	403,323	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90044109	Jiang L	2021	350	455,998	A generalized linear mixed model association tool for biobank-scale data.
GCST90482118	Verma A	2024	235	59,301	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

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	9

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	8
unknown	1

Functional consequences

Consequence	Count
intron_variant	7
intergenic_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs577531651	7	100066469	C>T	0	intron_variant	ZNF3	1e-13	Tier 4: intronic/intergenic
rs111504352	9	23560558	C>T	0.001	intron_variant	LINC03142 - SUMO2P2	2e-12	Tier 4: intronic/intergenic
rs576990442	16	81248543	G>A	0	intron_variant	BCO1	2e-12	Tier 4: intronic/intergenic
rs370265927	3	157470215	A>G,T	0	intron_variant	VEPH1	7e-12	Tier 4: intronic/intergenic
rs529204084	6	130874838	T>C	0	intron_variant	EPB41L2	8e-12	Tier 4: intronic/intergenic
rs372229555	5	78703869	A>G	0	intergenic_variant	LHFPL2	1e-11	Tier 4: intronic/intergenic
rs140691871	6	46501319	T>C	0	intron_variant	RCAN2-DT	1e-11	Tier 4: intronic/intergenic
rs186288708	10	126237631	C>T	0	intron_variant	ADAM12	4e-11	Tier 4: intronic/intergenic
rs142111105	2	125609555	A>G		intergenic_variant	RNU6-259P - LINC01941	2e-07	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
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01584388	PHASE1/PHASE2	COMPLETED	Rituximab in IgG4-RD: A Phase 1-2 Trial

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
RITUXIMAB	4	1