Autoimmune polyendocrinopathy type 2

Summary

Autoimmune polyendocrinopathy type 2 (MONDO:0010012) is a disease and 1 clinical trial. A subtype of autoimmune polyendocrinopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 12
• Clinical trials: 1

Clinical features

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO ID	Term	Frequency
HP:0000820	Abnormality of the thyroid gland	Very frequent (80-99%)
HP:0000872	Hashimoto thyroiditis	Very frequent (80-99%)
HP:0002608	Celiac disease	Very frequent (80-99%)
HP:0008207	Primary adrenal insufficiency	Very frequent (80-99%)
HP:0100647	Graves disease	Very frequent (80-99%)
HP:0100651	Type I diabetes mellitus	Very frequent (80-99%)
HP:0000135	Hypogonadism	Frequent (30-79%)
HP:0000829	Hypoparathyroidism	Frequent (30-79%)
HP:0001053	Hypopigmented skin patches	Frequent (30-79%)
HP:0001596	Alopecia	Frequent (30-79%)
HP:0003011	Abnormality of the musculature	Frequent (30-79%)
HP:0034061	Anti-steroid 17alpha-hydroxylase antibody positivity	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	autoimmune polyendocrinopathy type 2
Mondo ID	MONDO:0010012
OMIM	269200
Orphanet	3143
DOID	DOID:0050168
ICD-11	1065249344
NCIT	C129728
SNOMED CT	83728000
UMLS	C0085860
MedGen	39126
GARD	0007611
NORD	824
Is cancer (heuristic)	no

Also known as: APS type 2 · APS2 · autoimmune polyendocrine syndrome type 2 · Autoimmune Polyendocrine Syndrome Type II · autoimmune polyendocrine syndrome, type II · autoimmune polyglandular syndrome type 2 · autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome · diabetes mellitus, Addison’s disease, myxedema · multiple endocrine deficiency syndrome, type 2 · polyglandular deficiency syndrome type 2 · Schmidt syndrome · Schmidt’s syndrome

Data availability: 6 cell lines.

Disease family

This is a subtype of autoimmune polyendocrinopathy. 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 polyendocrinopathy › autoimmune polyendocrinopathy type 2

Related subtypes (3): autoimmune polyendocrine syndrome type 1, autoimmune polyendocrinopathy type 3, autoimmune polyendocrinopathy type 4

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05578105	Not specified	RECRUITING	Prevalence and Genetic Alternation of Autoimmune Polyglandular Syndrome Type II in Taiwan