Previous symbols: APECED. Aliases: PGA1, APS1.
ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Autoimmune Polyendocrinopathy | causative germline |
mechanism: AIRE-Dependent Central Tolerance Failure
animal model: mouse
scoped to subtype: Type 1
|
| Chronic Mucocutaneous Candidiasis | causative germline |
mechanism: Neutralizing Anti-IL-17A, Anti-IL-17F and Anti-IL-22 Autoantibodies
subtype: APECED
scoped to subtype: APECED
|
| Addison's Disease |
untyped
Autoimmune Polyendocrine Syndrome Type 1 (APS-1) is a known genetic cause
|
|
| Autoimmune Polyendocrine Syndrome Type 1 |
untyped
Causal
|
mechanism: AIRE Deficiency and Thymic Tolerance Failure
|
| Chronic Primary Adrenal Insufficiency |
untyped
Biallelic loss-of-function mutations cause autoimmune polyendocrine syndrome type 1 (APS-1), of which autoimmune Addison disease is a defining component.
|
|
| Thymoma | no genetic record |
mechanism: AIRE loss in thymic epithelial cells
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| autoimmune polyendocrine syndrome type 1 MONDO:0009411 | AR | Definitive 2024-11-07 |
Autoimmune Polyendocrinopathy
causative
Chronic Mucocutaneous Candidiasis
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.