IgG4-related dacryoadenitis and sialadenitis

Summary

IgG4-related dacryoadenitis and sialadenitis (MONDO:0019191) is a disease with 3 GWAS associations across 1 studies. A subtype of autoimmune disease of ear, nose and throat — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• GWAS associations: 3
• Phenotypes (HPO): 33

Clinical features

Signs & symptoms

Clinical features (HPO)

33 HPO clinical features (Orphanet curated; top 33 by frequency):

HPO ID	Term	Frequency
HP:0007734	Enlarged lacrimal glands	Very frequent (80-99%)
HP:0010286	Abnormal salivary gland morphology	Very frequent (80-99%)
HP:0010287	Abnormality of the submandibular glands	Very frequent (80-99%)
HP:0032300	Increased circulating IgG4 level	Very frequent (80-99%)
HP:0011801	Enlargement of parotid gland	Frequent (30-79%)
HP:0000217	Xerostomia	Occasional (5-29%)
HP:0000282	Facial edema	Occasional (5-29%)
HP:0000315	Abnormality of the orbital region	Occasional (5-29%)
HP:0000520	Proptosis	Occasional (5-29%)
HP:0000587	Abnormal optic nerve morphology	Occasional (5-29%)
HP:0000629	Periorbital fullness	Occasional (5-29%)
HP:0001097	Keratoconjunctivitis sicca	Occasional (5-29%)
HP:0001824	Weight loss	Occasional (5-29%)
HP:0001945	Fever	Occasional (5-29%)
HP:0002960	Autoimmunity	Occasional (5-29%)
HP:0003261	Increased circulating IgA level	Occasional (5-29%)
HP:0003324	Generalized muscle weakness	Occasional (5-29%)
HP:0003493	Antinuclear antibody positivity	Occasional (5-29%)
HP:0003496	Increased circulating IgM level	Occasional (5-29%)
HP:0008049	Abnormality of the extraocular muscles	Occasional (5-29%)
HP:0012378	Fatigue	Occasional (5-29%)
HP:0032230	Cytoplasmic antineutrophil antibody positivity	Occasional (5-29%)
HP:0100540	Palpebral edema	Occasional (5-29%)
HP:0100614	Myositis	Occasional (5-29%)
HP:0000618	Blindness	Very rare (<1-4%)
HP:0001873	Thrombocytopenia	Very rare (<1-4%)
HP:0001970	Tubulointerstitial nephritis	Very rare (<1-4%)
HP:0002716	Lymphadenopathy	Very rare (<1-4%)
HP:0005200	Retroperitoneal fibrosis	Very rare (<1-4%)
HP:0005994	Nodular goiter	Very rare (<1-4%)
HP:0007807	Optic nerve compression	Very rare (<1-4%)
HP:0011481	Abnormal lacrimal duct morphology	Very rare (<1-4%)
HP:0100646	Thyroiditis	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	IgG4-related dacryoadenitis and sialadenitis
Mondo ID	MONDO:0019191
MeSH	D008882
Orphanet	79078
DOID	DOID:12900
ICD-11	796087277
NCIT	C34819
SNOMED CT	7826003
UMLS	C0026103
MedGen	6399
GARD	0007043
MedDRA	10051457, 10052317
Is cancer (heuristic)	no

Also known as: chronic dacryoadenitis and sialadenitis · Mikulicz disease · Mikulicz disease (former) · Mikulicz syndrome (former) · Mikulicz’s disease (former)

Data availability: 3 GWAS associations (1 study).

Disease family

This is a subtype of autoimmune disease of ear, nose and throat. 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 › immune system disorder › autoimmune disease › autoimmune disease of ear, nose and throat › IgG4-related dacryoadenitis and sialadenitis

Related subtypes (6): Cogan syndrome, IgG4-related submandibular gland disease, eosinophilic angiocentric fibrosis, autoimmune inner ear disease, autoimmune uveitis, autoimmune retinopathy

Genetics & variants

GWAS landscape

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

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs66917126	4e-08	PTCH1 - ERCC6L2-AS1	T	1.94
rs894063168	4e-08	CAPZA3 - RPL7P6	T	12.57
rs140257968	5e-08	CSNK2B	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90728622	Zhang YO	2025	363	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	3

MAF distribution

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

Functional consequences

Consequence	Count
intron_variant	2
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs66917126	9	95560433	C>T	0.094	intron_variant	PTCH1 - ERCC6L2-AS1	4e-08	Tier 4: intronic/intergenic
rs894063168	12	18817706	C>T	0.002	intergenic_variant	CAPZA3 - RPL7P6	4e-08	Tier 4: intronic/intergenic
rs140257968	6	31669697	C>A,T		intron_variant	CSNK2B	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: 0.