ORPHA:85138
Addison disease
Synonyms: Autoimmune Addison disease · Autoimmune adrenalitis · Classic Addison disease · Primary Addison disease · Primary adrenal insufficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking, it designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Addison disease | Autoimmune Addison disease · Autoimmune adrenalitis · Classic Addison disease · Primary Addison disease · Primary adrenal insufficiency |
| fr | Maladie d'Addison | Insuffisance surrénale primaire · Maladie d'Addison auto-immune · Maladie d'Addison classique · Maladie d'Addison primaire |
| de | Addison-Krankheit | Addison-Krankheit, autoimmune · Addison-Krankheit, klassische · Addison-Krankheit, primäre · Adrenalitis, autoimmune · Autoimmune Adrenalitis · Primäre Nebenniereninsuffizienz |
| es | Enfermedad de Addison | Enfermedad de Addison autoinmune · Enfermedad de Addison clásica · Enfermedad de Addison primaria · Insuficiencia suprarrenal primaria · Adrenalitis autoinmune |
| it | Malattia di Addison | Insufficienza surrenalica primaria · Adrenalite autoimmune · Malattia di Addison autoimmune · Malattia di Addison classica · Malattia di Addison primitiva |
| nl | Ziekte van Addison | Auto-immune adrenalitis · Auto-immune ziekte van Addison · Klassieke ziekte van Addison · Primaire bijnierschorsinsufficiëntie · Primaire ziekte van Addison |
| pt | Doença Addison | Adrenalite autoimune · Insuficiência suprarrenal primária · Doença Addison autoimune · Doença Addison clássica · Doença Addison primária |
| pl | Choroba Addisona | Autoimmunologiczna choroba Addisona · Autoimmunologiczne zapalenie nadnerczy · Klasyczna choroba Addisona · Pierwotna choroba Addisona |
| cs | Addisonova choroba | Autoimunitní Addisonova choroba · Autoimunitní adrenalitida · Klasická Addisonova choroba · Primární Addisonova choroba |
| uk | Хвороба Аддісона | Аутоімунна хвороба Аддісона · Аутоімунний адреналіт · Класична хвороба Аддісона · Первинна хвороба Аддісона |
| zh | 艾迪生病 | 自身免疫性Addison病 |
| tr | Addison hastalığı | Otoimmün adrenalit · Klasik Addison hastalığı · Primer Addison hastalığı · Otoimmün Addison hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 103230 | BTNT | validated | |
| OMIM | 240200 | E | validated | |
| ICD-10 | E27.1 | NTBT | attributed | validated |
| ICD-11 | 5A74.0 | E | specific | validated |
| MONDO | 0100480 | E | validated | |
| MONDO | 100480 | E | validated | |
| MeSH | D000224 | E | validated | |
| UMLS | C0001403 | E | validated | |
| GARD | 5740 | E | validated | |
| MedDRA | 10001130 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101963Acquired chronic primary adrenal insufficiency
rare endocrine diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-5 / 10 000 | 54 / 100 000 | Specific population | Value and class | Validated | 12788587[PMID] |
| Point prevalence | 1-5 / 10 000 | 12.5 / 100 000 | Europe | Value and class | Validated | 21164269[PMID]_12788587[PMID]_ [EXPERT] |
| Point prevalence | 1-5 / 10 000 | 14 / 100 000 | Norway | Value and class | Validated | 12072049[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.3 / 100 000 | United Kingdom | Value and class | Validated | 919670[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
62 annotations · validated 2026-01-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0008163 | Decreased circulating cortisol level | |
| HP:0008207 | Primary adrenal insufficiency | |
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002039 | Anorexia | |
| HP:0002960 | Autoimmunity | |
| HP:0002019 | Constipation | |
| HP:0002014 | Diarrhea | |
| HP:0001508 | Failure to thrive | |
| HP:0012378 | Fatigue | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0002615 | Hypotension | |
| HP:0003154 | Increased circulating ACTH level | |
| HP:0001324 | Muscle weakness | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0100134 | Abnormality of the axillary hair | |
| HP:0100133 | Abnormality of the pubic hair | |
| HP:0008226 | Androgen insufficiency | |
| HP:0034071 | Anti-21-hydroxylase antibody positivity | |
| HP:0034055 | Anti-side-chain cleavage enzyme antibody positivity | |
| HP:0034061 | Anti-steroid 17alpha-hydroxylase antibody positivity | |
| HP:0025406 | Asthenia | |
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0031214 | Decreased circulating dehydroepiandrosterone concentration | |
| HP:0012364 | Decreased urinary potassium | |
| HP:0001944 | Dehydration | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0002153 | Hyperkalemia | |
| HP:0005976 | Hyperkalemic metabolic acidosis | |
| HP:0002149 | Hyperuricemia | |
| HP:0002902 | Hyponatremia | |
| HP:0000848 | Increased circulating renin level | |
| HP:0033834 | Malaise | |
| HP:0001897 | Normocytic anemia | |
| HP:0007505 | Progressive hyperpigmentation | |
| HP:0000127 | Renal salt wasting | |
| HP:0001649 | Tachycardia | |
| Occasional (29-5%) | ||
| HP:0010512 | Adrenal calcification | |
| HP:0000835 | Adrenal hypoplasia | |
| HP:0001596 | Alopecia | |
| HP:0002829 | Arthralgia | |
| HP:0002608 | Celiac disease | |
| HP:0030018 | Decreased female libido | |
| HP:0046504 | Decreased libido | |
| HP:0000823 | Delayed puberty | |
| HP:0000958 | Dry skin | |
| HP:0006462 | Generalized bone demineralization | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0003072 | Hypercalcemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0030083 | Salt craving | |
| HP:0001250 | Seizure | |
| HP:0002215 | Sparse axillary hair | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0002321 | Vertigo | |
| HP:0001045 | Vitiligo | |
| Very rare (<4-1%) | ||
| HP:0008720 | Primary testicular failure | |
| HP:0004860 | Thiamine-responsive megaloblastic anemia | |
| HP:0100522 | Thymoma | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 41587556[PMID]_32063488[PMID]_28723023[PMID]_20400889[PMID]_24695602[PMID]_25295623[PMID]_20399314[PMID]_15654180[PMID]_24613067[PMID]_23697517[PMID]_18000094[PMID]_16968806[PMID]_19574315[PMID]_15950720[PMID]_8614434[PMID]_11443143[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85138
- This record as JSON: /data/d/85138.json