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autoimmune polyendocrinopathy type 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autoimmune polyendocrinopathy type 2

MONDO:0010012

Also known as:APS type 2APS2Autoimmune Polyendocrine Syndrome Type II

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Overview

Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis.

GeneticsAutosomal recessive, Multifactorial, Autosomal dominant

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Low iron red blood cell count (iron deficiency anemia), Band keratopathy, Alopecia, and Keratoconjunctivitis and 16 more.

Organ System	Phenotype Count	Example Features
Digestive system	4	Liver scarring (cirrhosis) (cirrhosis), Liver inflammation (hepatitis), Exocrine pancreatic insufficiency

Diagnosis

Biomarker and diagnostic research for autoimmune polyendocrinopathy type 2 has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

14 publications have been identified in PubMed for autoimmune polyendocrinopathy type 2. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (14%), and Diagnostic / Biomarker (7%).

Research Type	Count	% of Total
Patient case studies	8	57%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:269200

Orphanet

European rare disease database

Orphanet:3143

GARD

Genetic and Rare Diseases Info Center

GARD:7611

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

autoimmune polyendocrinopathy type 2

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

autoimmune polyendocrinopathy type 2

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications