ORPHA:99889
Cushing syndrome due to ectopic ACTH secretion
Synonyms: Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor · Ectopic Cushing syndrome · Occult ectopic ACTH secretion · Paraneoplastic Cushing syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by the secretion of ACTH by non-pituitary neuroendocrine tumors (NETs) of various locations and various degrees of histological differentiation and aggressiveness.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cushing syndrome due to ectopic ACTH secretion | Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor · Ectopic Cushing syndrome · Occult ectopic ACTH secretion · Paraneoplastic Cushing syndrome |
| fr | Syndrome de Cushing par sécrétion ectopique d'ACTH | Syndrome de Cushing ectopique · Syndrome de Cushing paranéoplasique · Syndrome de production ectopique d'ACTH |
| de | Cushing-Syndrom durch ektopische ACTH-Produktion | Adrenocorticotropes Hormon-Sekretions-Syndrom · Cushing-Syndrom, ektopisches · Cushing-Syndrom, paraneoplastisches · Okkulte ektopische ACTH-Ausschüttung · Tumor, ACTH-sezernierender ektopischer |
| es | Síndrome de Cushing por secreción ectópica de ACTH | Secreción ectópica de ACTH oculta · Sindrome de Cushing paraneoplásico · Síndrome de Cushing ectópico · Síndrome de secreción de la hormona adrenocorticotrópica · Tumor secretor de ACTH ectópico |
| it | Sindrome di Cushing da secrezione ectopica di ACTH | Secrezione ectopica occulta di ACTH · Sindrome da secrezione dell'ormone adrenocorticotropo · Sindrome ectopica di Cushing · Sindrome paraneoplastica di Cushing · Tumore ectopico secernente ACTH |
| nl | Syndroom van Cushing door ectopische ACTH-secretie | Adrenocorticotroop hormoon-secretiesyndroom · Ectopisch syndroom van Cushing · Ectopische ACTH-secreterende tumor · Occulte ectopische ACTH-secretie · Paraneoplastisch syndroom van Cushing |
| pt | Síndrome Cushing por secreção ectópica de ACTH | |
| pl | Zespół Cushinga spowodowany ektopowym wydzielaniem ACTH | Ektopowy guz wydzielający ACTH · Ektopowy zespół Cushinga · Paraneoplastyczny zespół Cushinga · Ukryte ektopowe wydzielanie ACTH · Zespół wydzielania hormonu adrenokortykotropowego |
| cs | Cushingův syndrom způsobený ektopickou sekrecí ACTH | Syndrom adrenokortikotropní hormonální sekrece · Ektopický ACTH sekretující nádor · Okultní ektopická sekrece ACTH · Ektopický Cushingův syndrom · Paraneoplastický Cushingův syndrom |
| uk | Синдром Кушинга внаслідок ектопічної секреції АКТГ | Синдром секреції адренокортикотропного гормону · Ектопічна пухлина, що секретує АКТГ · Синдром ектопічного Кушинга · Прихована ектопічна секреція АКТГ · Паранеопластичний синдром Кушинга |
| zh | 异位促肾上腺皮质激素分泌所致库欣综合征 | 促肾上腺皮质激素分泌综合征 |
| tr | Ektopik ACTH sekresyonuna bağlı Cushing sendromu | Ektopik Cushing sendromu · Ektopik ACTH-salgılayıcı tümör · Gizli ektopik ACTH sekresyonu · Paraneoplastik Cushing sendromu · Adrenokortikotropik hormon sekresyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E24.3 | NTBT | attributed | validated |
| ICD-11 | 5A70.1 | E | specific | validated |
| MONDO | 0020527 | E | validated | |
| UMLS | C0001231 | 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 (2):
- ORPHA:99892ACTH-dependent Cushing syndrome
rare endocrine diseases; rare infertility disorders - ORPHA:506060Functioning neuroendocrine tumor of pancreas
rare gastroenterological diseases; rare endocrine diseases; rare neoplastic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
83 annotations · validated 2021-10-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000819 | Diabetes mellitus | |
| HP:0030200 | Fatiguable weakness of proximal limb muscles | |
| HP:0003154 | Increased circulating ACTH level | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0012030 | Increased urinary cortisol level | |
| HP:0003466 | Paradoxical increased cortisol secretion on dexamethasone suppression test | |
| Frequent (79-30%) | ||
| HP:0012743 | Abdominal obesity | |
| HP:0031845 | Abnormal libido | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0001061 | Acne | |
| HP:0008221 | Adrenal hyperplasia | |
| HP:0000141 | Amenorrhea | |
| HP:0000739 | Anxiety | |
| HP:0025406 | Asthenia | |
| HP:0000708 | Atypical behavior | |
| HP:0000978 | Bruising susceptibility | |
| HP:0025017 | Capillary fragility | |
| HP:0031891 | Decreased eosinophil count | |
| HP:0025383 | Dorsocervical fat pad | |
| HP:0031364 | Ecchymosis | |
| HP:0000712 | Emotional lability | |
| HP:0001007 | Hirsutism | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0000822 | Hypertension | |
| HP:0002721 | Immunodeficiency | |
| HP:0004324 | Increased body weight | |
| HP:0030348 | Increased circulating androgen concentration | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0100785 | Insomnia | |
| HP:0010284 | Intra-oral hyperpigmentation | |
| HP:0001888 | Lymphopenia | |
| HP:0500011 | Moon facies | |
| HP:0001324 | Muscle weakness | |
| HP:0000939 | Osteoporosis | |
| HP:0001050 | Plethora | |
| HP:0001058 | Poor wound healing | |
| HP:0007126 | Proximal amyotrophy | |
| HP:0001065 | Striae distensae | |
| HP:0000963 | Thin skin | |
| HP:0001956 | Truncal obesity | |
| Occasional (29-5%) | ||
| HP:0002733 | Abnormality of the lymph nodes | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0002039 | Anorexia | |
| HP:0030446 | Atypical pulmonary carcinoid tumor | |
| HP:0000716 | Depression | |
| HP:0002014 | Diarrhea | |
| HP:0031284 | Flushing | |
| HP:0040270 | Impaired glucose tolerance | |
| HP:0006749 | Malignant gastrointestinal tract tumors | |
| HP:0002354 | Memory impairment | |
| HP:0001658 | Myocardial infarction | |
| HP:0100521 | Neoplasm of the thymus | |
| HP:0100634 | Neuroendocrine neoplasm | |
| HP:0000876 | Oligomenorrhea | |
| HP:0030405 | Pancreatic endocrine tumor | |
| HP:0012398 | Peripheral edema | |
| HP:0000725 | Psychotic episodes | |
| HP:0000979 | Purpura | |
| HP:0011370 | Recurrent cutaneous fungal infections | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0200042 | Skin ulcer | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001297 | Stroke | |
| HP:0031589 | Suicidal ideation | |
| HP:0002953 | Vertebral compression fracture | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0000726 | Dementia | |
| HP:0500167 | Hypergastrinemia | |
| HP:0002865 | Medullary thyroid carcinoma | |
| HP:0006753 | Neoplasm of the stomach | |
| HP:0006725 | Pancreatic adenocarcinoma | |
| HP:0100757 | Pancreatoblastoma | |
| HP:0025269 | Panic attack | |
| HP:0011999 | Paranoia | |
| HP:0010741 | Pedal edema | |
| HP:0002666 | Pheochromocytoma | |
| HP:0012125 | Prostate cancer | |
| HP:0000709 | Psychosis | |
| HP:0030445 | Pulmonary carcinoid tumor | |
| HP:0030357 | Small cell lung carcinoma | |
| HP:0006722 | Small intestine carcinoid | |
| Excluded (0%) | ||
| HP:0002690 | Large sella turcica | |
| HP:0008291 | Pituitary corticotropic cell adenoma | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 27974908[PMID]_27104844[PMID]_33329407[PMID]_28341725[PMID]_31038596[PMID]_26018709[PMID]_25353285[PMID]_32785672[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99889
- This record as JSON: /data/d/99889.json