IgG4-related thyroid disease

Summary

IgG4-related thyroid disease (MONDO:0018992) is a disease. A subtype of autoimmune thyroid disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (United States) [Orphanet-validated]
• Phenotypes (HPO): 25

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 100 000	1.06	United States	Validated

Signs & symptoms

Clinical features (HPO)

25 HPO clinical features (Orphanet curated; top 25 by frequency):

HPO ID	Term	Frequency
HP:0000853	Goiter	Very frequent (80-99%)
HP:0100646	Thyroiditis	Very frequent (80-99%)
HP:0000821	Hypothyroidism	Frequent (30-79%)
HP:0000872	Hashimoto thyroiditis	Frequent (30-79%)
HP:0025379	Anti-thyroid peroxidase antibody positivity	Frequent (30-79%)
HP:0032069	Anti-thyroglobulin antibody positivity	Frequent (30-79%)
HP:0032300	Increased circulating IgG4 level	Frequent (30-79%)
HP:0001605	Vocal cord paralysis	Occasional (5-29%)
HP:0002015	Dysphagia	Occasional (5-29%)
HP:0002777	Tracheal stenosis	Occasional (5-29%)
HP:0002901	Hypocalcemia	Occasional (5-29%)
HP:0002960	Autoimmunity	Occasional (5-29%)
HP:0005994	Nodular goiter	Occasional (5-29%)
HP:0009798	Euthyroid goiter	Occasional (5-29%)
HP:0100647	Graves disease	Occasional (5-29%)
HP:0002664	Neoplasm	Excluded (0%)
HP:0012393	Allergy	Excluded (0%)
HP:0005200	Retroperitoneal fibrosis	Very rare (<1-4%)
HP:0011784	Thyrotoxicosis with diffuse goiter	Very rare (<1-4%)
HP:0012503	Abnormality of the pituitary gland	Very rare (<1-4%)
HP:0030991	Sclerosing cholangitis	Very rare (<1-4%)
HP:0031281	Sialadenitis	Very rare (<1-4%)
HP:0032039	Abnormality of the ocular adnexa	Very rare (<1-4%)
HP:0045026	Abnormality of the mediastinum	Very rare (<1-4%)
HP:0100732	Pancreatic fibrosis	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	IgG4-related thyroid disease
Mondo ID	MONDO:0018992
Orphanet	64744
DOID	DOID:14351
ICD-11	1357889668
NCIT	C35827
SNOMED CT	89024000
UMLS	C0154162
MedGen	509536
GARD	0018866
MedDRA	10039142
Is cancer (heuristic)	no

Also known as: Riedel disease · Riedel fibrosing thyroiditis · Riedel thyroiditis · Riedel’s fibrosing thyroiditis

Disease family

This is a subtype of autoimmune thyroid disease. 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 › endocrine system disorder › autoimmune disorder of endocrine system › autoimmune thyroid disease › IgG4-related thyroid disease

Related subtypes (4): Graves disease, atrophic thyroiditis, Hashimoto thyroiditis, postpartum thyroiditis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

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.