Autoimmune primary adrenal insufficiency
diseaseOn this page
Also known as Addison diseaseAddison's diseaseautoimmune Addison diseaseautoimmune Addison's diseaseautoimmune adrenalitisclassic Addison's diseaseprimary Addison's disease
Summary
Autoimmune primary adrenal insufficiency (MONDO:0100480) is a disease and 21 clinical trials. Top therapeutic interventions include hydrocortisone cypionate, hydrocortisone sodium succinate, and hydrocortisone. A subtype of chronic primary adrenal insufficiency — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 56
- Clinical trials: 21
Clinical features
Epidemiology
Prevalence records
4 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 12.5 | Europe | Validated |
| Annual incidence | 1-5 / 10 000 | 54 | Specific population | Validated |
| Point prevalence | 1-5 / 10 000 | 14 | Norway | Validated |
| Point prevalence | 1-9 / 100 000 | 9.3 | United Kingdom | Validated |
Signs & symptoms
Clinical features (HPO)
56 HPO clinical features (Orphanet curated; top 50 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0008163 | Decreased circulating cortisol level | Obligate (100%) |
| HP:0008207 | Primary adrenal insufficiency | Obligate (100%) |
| HP:0002014 | Diarrhea | Very frequent (80-99%) |
| HP:0002017 | Nausea and vomiting | Very frequent (80-99%) |
| HP:0002019 | Constipation | Very frequent (80-99%) |
| HP:0002027 | Abdominal pain | Very frequent (80-99%) |
| HP:0002039 | Anorexia | Very frequent (80-99%) |
| HP:0002615 | Hypotension | Very frequent (80-99%) |
| HP:0002960 | Autoimmunity | Very frequent (80-99%) |
| HP:0003154 | Increased circulating ACTH level | Very frequent (80-99%) |
| HP:0012378 | Fatigue | Very frequent (80-99%) |
| HP:0000953 | Hyperpigmentation of the skin | Very frequent (80-99%) |
| HP:0001324 | Muscle weakness | Very frequent (80-99%) |
| HP:0001508 | Failure to thrive | Very frequent (80-99%) |
| HP:0001824 | Weight loss | Very frequent (80-99%) |
| HP:0000127 | Renal salt wasting | Frequent (30-79%) |
| HP:0000848 | Increased circulating renin level | Frequent (30-79%) |
| HP:0001649 | Tachycardia | Frequent (30-79%) |
| HP:0001897 | Normocytic anemia | Frequent (30-79%) |
| HP:0001944 | Dehydration | Frequent (30-79%) |
| HP:0002149 | Hyperuricemia | Frequent (30-79%) |
| HP:0002153 | Hyperkalemia | Frequent (30-79%) |
| HP:0002902 | Hyponatremia | Frequent (30-79%) |
| HP:0004319 | Decreased circulating aldosterone level | Frequent (30-79%) |
| HP:0005976 | Hyperkalemic metabolic acidosis | Frequent (30-79%) |
| HP:0008226 | Androgen insufficiency | Frequent (30-79%) |
| HP:0012364 | Decreased urinary potassium | Frequent (30-79%) |
| HP:0025406 | Asthenia | Frequent (30-79%) |
| HP:0033834 | Malaise | Frequent (30-79%) |
| HP:0034055 | Anti-side-chain cleavage enzyme antibody positivity | Frequent (30-79%) |
| HP:0034061 | Anti-steroid 17alpha-hydroxylase antibody positivity | Frequent (30-79%) |
| HP:0034071 | Anti-21-hydroxylase antibody positivity | Frequent (30-79%) |
| HP:0030083 | Salt craving | Occasional (5-29%) |
| HP:0100651 | Type I diabetes mellitus | Occasional (5-29%) |
| HP:0000823 | Delayed puberty | Occasional (5-29%) |
| HP:0000829 | Hypoparathyroidism | Occasional (5-29%) |
| HP:0000835 | Adrenal hypoplasia | Occasional (5-29%) |
| HP:0000872 | Hashimoto thyroiditis | Occasional (5-29%) |
| HP:0000958 | Dry skin | Occasional (5-29%) |
| HP:0001045 | Vitiligo | Occasional (5-29%) |
| HP:0001250 | Seizure | Occasional (5-29%) |
| HP:0001278 | Orthostatic hypotension | Occasional (5-29%) |
| HP:0001596 | Alopecia | Occasional (5-29%) |
| HP:0001943 | Hypoglycemia | Occasional (5-29%) |
| HP:0002215 | Sparse axillary hair | Occasional (5-29%) |
| HP:0002321 | Vertigo | Occasional (5-29%) |
| HP:0002608 | Celiac disease | Occasional (5-29%) |
| HP:0002829 | Arthralgia | Occasional (5-29%) |
| HP:0003072 | Hypercalcemia | Occasional (5-29%) |
| HP:0006462 | Generalized bone demineralization | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | autoimmune primary adrenal insufficiency |
| Mondo ID | MONDO:0100480 |
| Orphanet | 85138 |
| ICD-11 | 1920929898 |
| NCIT | C113814 |
| UMLS | C0271737 |
| MedGen | 543526 |
| GARD | 0005740 |
| Is cancer (heuristic) | no |
Also known as: Addison disease · Addison’s disease · autoimmune Addison disease · autoimmune Addison’s disease · autoimmune adrenalitis · classic Addison’s disease · primary Addison’s disease
Data availability: 7 cell lines.
Disease family
This is a subtype of chronic primary adrenal insufficiency. 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 › adrenal gland disorder › adrenal cortex disorder › adrenocortical insufficiency › primary adrenal insufficiency › chronic primary adrenal insufficiency › autoimmune primary adrenal insufficiency
Related subtypes (7): adrenocortical hypofunction, chronic primary congenital, familial adrenal hypoplasia with absent pituitary luteinizing hormone, familial glucocorticoid deficiency, triple-A syndrome, X-linked adrenal hypoplasia congenita, inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency, congenital adrenal hyperplasia
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: 21.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 14 |
| PHASE4 | 2 |
| PHASE2 | 2 |
| PHASE3 | 1 |
| PHASE2/PHASE3 | 1 |
| PHASE1/PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03210545 | PHASE4 | COMPLETED | A Study of Markers of Glucocorticoid Effects in Patients With Addisons Disease (DOSCORT) |
| NCT05350020 | PHASE4 | UNKNOWN | The Effects of Two Brands of Hydrocortisone Injected Intramuscularly Into Deltoid and Thigh Muscles |
| NCT00004313 | PHASE3 | COMPLETED | Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone Replacement for Primary Adrenal Insufficiency |
| NCT01063569 | PHASE2/PHASE3 | COMPLETED | Glucocorticoid Treatment in Addison’s Disease |
| NCT01840189 | PHASE2 | TERMINATED | Continuous Subcutaneous Hydrocortisone Infusion In Addison’s Disease and Type 1 Diabetes |
| NCT01847690 | PHASE2 | UNKNOWN | Effect of Cortisol on Physical Exertion in Patients With Primary Adrenal Failure |
| NCT02096510 | PHASE1/PHASE2 | COMPLETED | Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia |
| NCT01793168 | Not specified | RECRUITING | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford |
| NCT04252001 | Not specified | NOT_YET_RECRUITING | Growing up With the Young Endocrine Support System (YESS!) |
| NCT07413874 | Not specified | NOT_YET_RECRUITING | Telehealth Music Therapy for Adults With Endocrine Disorder and Depression |
| NCT00251836 | Not specified | COMPLETED | Adrenal Function After Living Kidney Donation |
| NCT00444119 | Not specified | COMPLETED | Survey in Patients With Chronic Adrenal Insufficiency in Germany |
| NCT00688987 | Not specified | COMPLETED | The Hypothalamic-Pituitary-Adrenal (HPA) Axis as an Effector System in Weight Regulation |
| NCT01271296 | Not specified | COMPLETED | Effects and Interactions of Liquorice and Grapefruit on Glucocorticoid Replacement Therapy in Addison’s Disease |
| NCT01452893 | Not specified | COMPLETED | Counterregulatory Hormone Production in Adrenal Insufficiency and Diabetes Type I |
| NCT01657123 | Not specified | UNKNOWN | Exercise Capacity and Recovery in Addison’s Disease |
| NCT02152553 | Not specified | COMPLETED | Biomarker(s) for Glucocorticoids |
| NCT03941184 | Not specified | COMPLETED | Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity |
| NCT04374721 | Not specified | UNKNOWN | Clinical Study on Circadian Genes Dysregulation in Patients With Glucocorticoid Disorders |
| NCT04789993 | Not specified | UNKNOWN | Additional Autoimmune Diseases With Type 1 Diabetes in Pediatrics at Diabetes Diagnosis and During Follow-up |
| NCT05515055 | Not specified | UNKNOWN | Does Relative Hypoglycaemia &/or Sleep Disturbance Contribute to the Lethargy Observed in Addison’s Disease |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| HYDROCORTISONE CYPIONATE | 4 | 3 |
| HYDROCORTISONE SODIUM SUCCINATE | 4 | 3 |
| HYDROCORTISONE | 4 | 2 |
| BETAMETHASONE | 4 | 1 |
| PRASTERONE | 4 | 1 |
| GRAPEFRUIT JUICE | 1 | 1 |
| CHEMBL31399 | 0 | 1 |