Autoimmune polyendocrinopathy type 4

Summary

Autoimmune polyendocrinopathy type 4 (MONDO:0016423) is a disease. A subtype of autoimmune polyendocrinopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 32

Clinical features

Signs & symptoms

Clinical features (HPO)

32 HPO clinical features (Orphanet curated; top 32 by frequency):

HPO ID	Term	Frequency
HP:0002960	Autoimmunity	Obligate (100%)
HP:0001972	Macrocytic anemia	Frequent (30-79%)
HP:0002582	Atrophic gastritis	Frequent (30-79%)
HP:0002608	Celiac disease	Frequent (30-79%)
HP:0030057	Autoimmune antibody positivity	Frequent (30-79%)
HP:0100651	Type I diabetes mellitus	Frequent (30-79%)
HP:0001045	Vitiligo	Occasional (5-29%)
HP:0001596	Alopecia	Occasional (5-29%)
HP:0001882	Leukopenia	Occasional (5-29%)
HP:0002613	Biliary cirrhosis	Occasional (5-29%)
HP:0004313	Decreased circulating antibody level	Occasional (5-29%)
HP:0010625	Anterior pituitary dysgenesis	Occasional (5-29%)
HP:0000872	Hashimoto thyroiditis	Excluded (0%)
HP:0002728	Chronic mucocutaneous candidiasis	Excluded (0%)
HP:0008207	Primary adrenal insufficiency	Excluded (0%)
HP:0100647	Graves disease	Excluded (0%)
HP:0000217	Xerostomia	Very rare (<1-4%)
HP:0000815	Hypergonadotropic hypogonadism	Very rare (<1-4%)
HP:0000863	Central diabetes insipidus	Very rare (<1-4%)
HP:0000938	Osteopenia	Very rare (<1-4%)
HP:0001094	Iridocyclitis	Very rare (<1-4%)
HP:0001097	Keratoconjunctivitis sicca	Very rare (<1-4%)
HP:0001370	Rheumatoid arthritis	Very rare (<1-4%)
HP:0001970	Tubulointerstitial nephritis	Very rare (<1-4%)
HP:0001973	Autoimmune thrombocytopenia	Very rare (<1-4%)
HP:0003613	Antiphospholipid antibody positivity	Very rare (<1-4%)
HP:0006530	Abnormal pulmonary interstitial morphology	Very rare (<1-4%)
HP:0008066	Abnormal blistering of the skin	Very rare (<1-4%)
HP:0010451	Aplasia/Hypoplasia of the spleen	Very rare (<1-4%)
HP:0012115	Hepatitis	Very rare (<1-4%)
HP:0012220	Non-caseating epithelioid cell granulomatosis	Very rare (<1-4%)
HP:0100522	Thymoma	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	autoimmune polyendocrinopathy type 4
Mondo ID	MONDO:0016423
Orphanet	227990
ICD-11	1561026337
SNOMED CT	449730005
UMLS	C3266026
MedGen	757804
GARD	0020567
Is cancer (heuristic)	no

Also known as: APS type 4 · APS4 · autoimmune polyendocrine syndrome type 4 · autoimmune polyglandular syndrome type 4

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 4

Related subtypes (3): autoimmune polyendocrine syndrome type 1, autoimmune polyendocrinopathy type 2, autoimmune polyendocrinopathy type 3

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.