{"orpha":99889,"name":"Cushing syndrome due to ectopic ACTH secretion","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adrenocorticotropic hormone secretion syndrome","Ectopic ACTH secreting tumor","Ectopic Cushing syndrome","Occult ectopic ACTH secretion","Paraneoplastic Cushing syndrome"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99889/","orphanet_url":"https://www.orpha.net/en/disease/detail/99889","names":{"fr":{"name":"Syndrome de Cushing par sécrétion ectopique d'ACTH","synonyms":["Syndrome de Cushing ectopique","Syndrome de Cushing paranéoplasique","Syndrome de production ectopique d'ACTH"],"definition":"Forme de syndrome de Cushing dépendant de l'ACTH, un syndrome de Cushing endogène (SC), caractérisée par la sécrétion d'ACTH par des tumeurs neuroendocrines (TNE) non hypophysaires de diverses localisations et de divers degrés de différenciation histologique et d'agressivité."},"de":{"name":"Cushing-Syndrom durch ektopische ACTH-Produktion","synonyms":["Adrenocorticotropes Hormon-Sekretions-Syndrom","Cushing-Syndrom, ektopisches","Cushing-Syndrom, paraneoplastisches","Okkulte ektopische ACTH-Ausschüttung","Tumor, ACTH-sezernierender ektopischer"],"definition":"Eine Form des adrenokortikotropen Hormon (ACTH)-abhängigen Cushing-Syndroms (CS), das als endogenes CS bezeichnet wird und durch die Sekretion von ACTH durch nicht-hypophysäre neuroendokrine Tumoren (NETs) unterschiedlicher Lokalisation und unterschiedlichen Grades der histologischen Differenzierung und Aggressivität gekennzeichnet ist."},"es":{"name":"Síndrome de Cushing por secreción ectópica de ACTH","synonyms":["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"],"definition":"Es una forma del síndrome de Cushing dependiente de la hormona adrenocorticotrópica (ACTH), un síndrome de Cushing (SC) endógeno, caracterizado por la secreción de ACTH por tumores neuroendocrinos (TNE) no hipofisarios de localización variable y diversos grados de diferenciación histológica y de agresividad."},"it":{"name":"Sindrome di Cushing da secrezione ectopica di ACTH","synonyms":["Secrezione ectopica occulta di ACTH","Sindrome da secrezione dell'ormone adrenocorticotropo","Sindrome ectopica di Cushing","Sindrome paraneoplastica di Cushing","Tumore ectopico secernente ACTH"],"definition":"La sindrome di Cushing da secrezione ectopica di ACTH (ormone adrenocorticotropo) (EAS) è una forma di sindrome di Cushing ACTH-dipendente da secrezione eccessiva di ACTH, dovuta a un tumore non ipofisario benigno o, più spesso, maligno."},"nl":{"name":"Syndroom van Cushing door ectopische ACTH-secretie","synonyms":["Adrenocorticotroop hormoon-secretiesyndroom","Ectopisch syndroom van Cushing","Ectopische ACTH-secreterende tumor","Occulte ectopische ACTH-secretie","Paraneoplastisch syndroom van Cushing"],"definition":"Een vorm van adrenocorticotroop hormoon (ACTH)-afhankelijk syndroom van Cushing, een endogeen syndroom van Cushing (CS), gekenmerkt door secretie van ACTH door niet-hypofysaire neuro-endocriene tumoren (NET's) op verschillende locaties en met verschillende mate van histologische differentiatie en agressiviteit."},"pt":{"name":"Síndrome Cushing por secreção ectópica de ACTH","definition":"Forma da síndrome Cushing dependente de hormona adrenocorticotrófica (ACTH), uma síndrome Cushing (SC) endógena, caracterizada pela secreção de ACTH por tumores neuroendócrinos (TNEs) não hipofisários de várias localizações e vários graus de diferenciação histológica e agressividade."},"pl":{"name":"Zespół Cushinga spowodowany ektopowym wydzielaniem ACTH","synonyms":["Ektopowy guz wydzielający ACTH","Ektopowy zespół Cushinga","Paraneoplastyczny zespół Cushinga","Ukryte ektopowe wydzielanie ACTH","Zespół wydzielania hormonu adrenokortykotropowego"]},"cs":{"name":"Cushingův syndrom způsobený ektopickou sekrecí ACTH","synonyms":["Syndrom adrenokortikotropní hormonální sekrece","Ektopický ACTH sekretující nádor","Okultní ektopická sekrece ACTH","Ektopický Cushingův syndrom","Paraneoplastický Cushingův syndrom"]},"uk":{"name":"Синдром Кушинга внаслідок ектопічної секреції АКТГ","synonyms":["Синдром секреції адренокортикотропного гормону","Ектопічна пухлина, що секретує АКТГ","Синдром ектопічного Кушинга","Прихована ектопічна секреція АКТГ","Паранеопластичний синдром Кушинга"],"definition":"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."},"zh":{"name":"异位促肾上腺皮质激素分泌所致库欣综合征","synonyms":["促肾上腺皮质激素分泌综合征"],"definition":"促肾上腺皮质激素(ACTH)异位分泌所致的库欣综合征(EAS)是一种ACTH依赖性库欣综合征(见该词条)，由良性或更常见的恶性非垂体肿瘤分泌过量的ACTH引起。"},"tr":{"name":"Ektopik ACTH sekresyonuna bağlı Cushing sendromu","synonyms":["Ektopik Cushing sendromu","Ektopik ACTH-salgılayıcı tümör","Gizli ektopik ACTH sekresyonu","Paraneoplastik Cushing sendromu","Adrenokortikotropik hormon sekresyon sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E24.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A70.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1646144829"},{"source":"MONDO","code":"0020527","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0001231","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":99892,"name":"ACTH-dependent Cushing syndrome","classifications":[193,201]},{"orpha":506060,"name":"Functioning neuroendocrine tumor of pancreas","classifications":[152,193,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-22","source":"27974908[PMID]_27104844[PMID]_33329407[PMID]_28341725[PMID]_31038596[PMID]_26018709[PMID]_25353285[PMID]_32785672[PMID]","terms":[{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030200","label":"Fatiguable weakness of proximal limb muscles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012030","label":"Increased urinary cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003466","label":"Paradoxical increased cortisol secretion on dexamethasone suppression test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012743","label":"Abdominal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031845","label":"Abnormal libido","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008221","label":"Adrenal hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025017","label":"Capillary fragility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031891","label":"Decreased eosinophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025383","label":"Dorsocervical fat pad","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031364","label":"Ecchymosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030348","label":"Increased circulating androgen concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010284","label":"Intra-oral hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500011","label":"Moon facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001050","label":"Plethora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007126","label":"Proximal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001065","label":"Striae distensae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001956","label":"Truncal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002733","label":"Abnormality of the lymph nodes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030446","label":"Atypical pulmonary carcinoid tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040270","label":"Impaired glucose tolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006749","label":"Malignant gastrointestinal tract tumors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100521","label":"Neoplasm of the thymus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100634","label":"Neuroendocrine neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030405","label":"Pancreatic endocrine tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000725","label":"Psychotic episodes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011370","label":"Recurrent cutaneous fungal infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031589","label":"Suicidal ideation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002953","label":"Vertebral compression fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0500167","label":"Hypergastrinemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002865","label":"Medullary thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006753","label":"Neoplasm of the stomach","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006725","label":"Pancreatic adenocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100757","label":"Pancreatoblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025269","label":"Panic attack","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011999","label":"Paranoia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002666","label":"Pheochromocytoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012125","label":"Prostate cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030445","label":"Pulmonary carcinoid tumor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030357","label":"Small cell lung carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006722","label":"Small intestine carcinoid","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002690","label":"Large sella turcica","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0008291","label":"Pituitary corticotropic cell adenoma","frequency":"Excluded (0%)","criteria":null}]}}