Late-onset isolated ACTH deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Late-onset isolated ACTH deficiency | |
| fr | Déficit isolé tardif en ACTH | |
| de | ACTH-Mangel, isolierter, spät beginnender | |
| es | Deficiencia de ACTH aislada de inicio tardío | |
| it | Deficit isolato di ACTH a esordio tardivo | |
| nl | Geïsoleerde ACTH-deficiëntie met late aanvang | |
| pt | Deficiência de ACTH isolada de início tardio | |
| pl | Izolowany Niedobór ACTH o późnym początku | |
| cs | Izolovaný deficit ACTH s pozdním nástupem | |
| uk | Пізній початок ізольованого дефіциту АКТГ | |
| zh | 迟发性单独促肾上腺皮质激素缺乏症 | |
| tr | Geç başlangıçlı izole ACTH eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E23.6 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0016042 | E | validated | |
| UMLS | C4751433 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:95502Acquired pituitary hormone deficiency
rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
41 annotations · validated 2016-09-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011748 | Adrenocorticotropic hormone deficiency | |
| HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | |
| HP:0008163 | Decreased circulating cortisol level | |
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002039 | Anorexia | |
| HP:0002960 | Autoimmunity | |
| HP:0002019 | Constipation | |
| HP:0002920 | Decreased circulating ACTH level | |
| HP:0002014 | Diarrhea | |
| HP:0001508 | Failure to thrive | |
| HP:0012378 | Fatigue | |
| HP:0002615 | Hypotension | |
| HP:0001254 | Lethargy | |
| HP:0001324 | Muscle weakness | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0100647 | Graves disease | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0002149 | Hyperuricemia | |
| HP:0002902 | Hyponatremia | |
| HP:0011134 | Low-grade fever | |
| HP:0001972 | Macrocytic anemia | |
| HP:0001897 | Normocytic anemia | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0100651 | Type I diabetes mellitus | |
| Occasional (29-5%) | ||
| HP:0002829 | Arthralgia | |
| HP:0002608 | Celiac disease | |
| HP:0000958 | Dry skin | |
| HP:0006462 | Generalized bone demineralization | |
| HP:0012115 | Hepatitis | |
| HP:0003072 | Hypercalcemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0001250 | Seizure | |
| HP:0002321 | Vertigo | |
| HP:0001045 | Vitiligo | |
| Very rare (<4-1%) | ||
| HP:0002893 | Pituitary adenoma | |
| HP:0100806 | Sepsis | |
| Excluded (0%) | ||
| HP:0002153 | Hyperkalemia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19110973[PMID]_2545769[PMID]_17371483[PMID]_10209566[PMID]_20400889[PMID]_12911282[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199299
- This record as JSON: /data/d/199299.json