autoimmune polyendocrine syndrome type 1
ICD-10: E31.0ORPHA: 3453
Overview
autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autoimmune polyendocrine syndrome type 1, sourced from HPO and Orphanet clinical annotations.
HypoparathyroidismChronic mucocutaneous candidiasisAutoimmunityIncreased circulating cortisol levelDecreased circulating aldosterone concentrationPrimary adrenal insufficiencyAdrenal hyperplasiaAbnormal circulating calcium-phosphate regulating hormone concentrationAbnormal cerebral vascular morphologyCataractPhotophobiaHyperpigmentation of the skinEctodermal dysplasiaKeratoconjunctivitisEnamel hypoplasiaOpacification of the corneal stromaPremature ovarian insufficiencyAnti-side-chain cleavage enzyme antibody positivityAnti-21-hydroxylase antibody positivityDecreased circulating vitamin B12 concentrationType I diabetes mellitusNephritisHypogonadismUveitisOptic atrophyHashimoto thyroiditisVitiligoHypopigmented skin patchesAlopeciaAspleniaMalabsorptionAtrophic gastritisInterstitial pneumonitisReduced visual acuityNail dystrophyPrimary testicular failureHepatitisCorneal ulceration
Classification & Codes
ICD-10 Code
E31.0Orphanet Code
ORPHA:3453autoimmune polyendocrine syndrome type 1
| ICD-10 | E31.0 |
| Orphanet | ORPHA:3453 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO