{"orpha":189427,"name":"Cushing syndrome due to bilateral macronodular adrenocortical disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CS due to BMACD","CS due to BMAD","Cushing syndrome due to BMACD","Cushing syndrome due to BMAD","Cushing syndrome due to macronodular adrenal hyperplasia","Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia"],"definition":"A rare adrenal Cushing syndrome characterized by bilateral benign adrenal macronodules (>1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-189427/","orphanet_url":"https://www.orpha.net/en/disease/detail/189427","names":{"fr":{"name":"Syndrome de Cushing dû à une maladie macronodulaire bilatérale des surrénales","synonyms":["Syndrome de Cushing dû à une hyperplasie macronodulaire bilatérale des surrénales","Syndrome de Cushing dû à une hyperplasie macronodulaire des surrénales"],"definition":"Syndrome de Cushing surrénalien rare caractérisé par des macronodules surrénaliens bénins bilatéraux (>1 cm) pouvant être à l'origine d'une sécrétion excessive autonome de cortisol (taux variables). Bien que la plupart des cas soient des cas de syndrome de Cushing non dépendants de l'ACTH, des taux d'ACTH non supprimés ont été rapportés."},"de":{"name":"Cushing-Syndrom durch bilaterale makronoduläre Nebennierenhyperplasie","synonyms":["CS durch BMACD","CS durch BMAD","Cushing-Syndrom bei primärer bilateraler makronodulärer Nebennierenhyperplasie","Cushing-Syndrom durch makronoduläre Nebennierenhyperplasie","Nebennierenhyperplasie, bilaterale makronoduläre primäre"],"definition":"Ein seltene Form des adrenalen Cushing-Syndrom (CS), das durch bilaterale gutartige Makronoduli der Nebenniere (>1 cm) gekennzeichnet ist, die potenziell autonom variable Mengen an Cortisolüberschuss produzieren. Obwohl es in den meisten Fällen ACTH-unabhängig ist, wurden auch nicht-supprimierte ACTH-Spiegel beschrieben."},"es":{"name":"Síndrome de Cushing por enfermedad corticosuprarrenal macronodular bilateral","synonyms":["SC por BMACD","SC por BMAD","Síndrome de Cushing por BMACD","Síndrome de Cushing por BMAD","Síndrome de Cushing por hiperplasia corticosuprarrenal macronodular","Síndrome de Cushing por hiperplasia primaria corticosuprarrenal macronodular bilateral"],"definition":"Es un síndrome de Cushing suprarrenal poco frecuente caracterizado por macronódulos suprarrenales benignos bilaterales (>1 cm) con capacidad para producir niveles variables de cortisol en exceso de forma autónoma. Aunque en la mayoría de los casos son independientes de ACTH, se han descrito niveles no suprimidos de ACTH."},"it":{"name":"Sindrome di Cushing da malattia adrenocorticale macronodulare bilaterale","synonyms":["SC da BMACD","SC da BMAD","Sindrome di Cushing da BMACD","Sindrome di Cushing da BMAD","Sindrome di Cushing da iperplasia macronodulare dei surreni","Sindrome di Cushing da iperplasia primitiva macronodulare bilaterale del surrene","Sindrome di Cushing da iperplasia surrenalica macronodulare","Sindrome di Cushing da iperplasia surrenalica macronodulare bilaterale primitiva"],"definition":"L'iperplasia surrenalica macronodulare indipendente dall'ACTH (AIMAH) è una causa rara della sindrome di Cushing (CS), con accrescimento nodulare di entrambe le ghiandole surrenali (noduli multipli di oltre 1 cm di diametro), che producono cortisolo in eccesso, e segni della CS ormone adrenocorticotropo(ACTH)-indipendente."},"nl":{"name":"Syndroom van Cushing door bilaterale macronodulaire adrenocorticale ziekte","synonyms":["CS door BMACD","CS door BMAD","Syndroom van Cushing door BMACD","Syndroom van Cushing door BMAD","Syndroom van Cushing door macronodulaire adrenale hyperplasie","Syndroom van Cushing door primaire bilaterale macronodulaire bijnierhyperplasie"],"definition":"Een zeldzaam adrenaal syndroom van Cushing, gekenmerkt door bilaterale goedaardige adrenale macronoduli (groter dan 1 cm) die mogelijk autonoom een variabele mate van overmaat aan cortisol produceren. Hoewel de meeste gevallen ACTH-onafhankelijk zijn, werden ook gevallen met niet-onderdrukte ACTH-gehaltes beschreven."},"pt":{"name":"Síndrome Cushing por doença adrenocortical macronodular bilateral","synonyms":["CS por BMAD","Síndrome Cushing por BMACD","Síndrome Cushing por BMAD","Síndrome Cushing por hiperplasia supra-renal macronodular","Síndrome Cushing por hiperplasia supra-renal macronodular bilateral primária"],"definition":"Síndrome Cushing adrenal rara caracterizada por macronódulos adrenais benignos bilaterais (>1 cm) que potencialmente produzem níveis autonomamente variáveis &#8203;&#8203;de excesso de cortisol. Embora na maioria dos casos sejam ACTH-independentes, níveis de ACTH não suprimidos foram descritos."},"pl":{"name":"Zespół Cushinga spowodowany wielkoguzkowym przerostem nadnerczy","synonyms":["Pierwotny obustronny wielkoguzkowy przerost nadnerczy","Zespół Cushinga z powodu obustronnej wielkoguzkowej choroby kory nadnerczy"]},"cs":{"name":"Cushingův syndrom způsobený makronodulární adrenální hyperplázií","synonyms":["Primární oboustranná makronodulární adrenální hyperplázie"]},"uk":{"name":"Синдром Кушинга внаслідок двосторонньої макронодулярної адренокортикальної хвороби","synonyms":["СК через BMACD","СК завдяки BMAD","Синдром Кушинга, спричинений BMACD","Синдром Кушинга внаслідок BMAD","Синдром Кушинга внаслідок макронодулярної гіперплазії надниркових залоз","Синдром Кушинга внаслідок первинної двобічної макронодулярної гіперплазії надниркових залоз"],"definition":"A rare adrenal Cushing syndrome characterized by bilateral benign adrenal macronodules (>1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described."},"zh":{"name":"大结节性肾上腺增生所致库欣综合征","synonyms":["原发性双侧大结节性肾上腺增生"],"definition":"肾上腺大结节增生所致库欣综合征是库欣综合征（CS）的一种罕见病因，其主要临床表现为双侧肾上腺结节状肿大（多个结节直径超过1厘米），导致皮质醇增多，并出现促肾上腺皮质激素（ACTH）非依赖性库欣综合征的特征。"},"tr":{"name":"Makronodüler adrenal hiperplaziye bağlı Cushing sendromu","synonyms":["Primer bilateral makronodüler adrenal hiperplazi"]}},"xrefs":[{"source":"OMIM","code":"219080","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615830","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615954","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"708993141"},{"source":"MONDO","code":"0009049","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9049","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2062388","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10824","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":647758,"name":"Adrenal Cushing syndrome","classifications":[193]},{"orpha":183637,"name":"Rare genetic adrenal disease","classifications":[156]},{"orpha":399584,"name":"Rare male infertility due to adrenal disorder","classifications":[201]},{"orpha":399994,"name":"Rare male infertility due to adrenal disorder of genetic origin","classifications":[156]}],"children":[],"genes":[{"symbol":"ARMC5","name":"armadillo repeat containing 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24283224[PMID]","hgnc":"25781","ensembl":"ENSG00000140691","omim":"615549","loci":["16p11.2"]},{"symbol":"GNAS","name":"GNAS complex locus","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"12727968[PMID]","hgnc":"4392","ensembl":"ENSG00000087460","omim":"139320","loci":["20q13.32"]},{"symbol":"KDM1A","name":"lysine demethylase 1A","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"34906447[PMID]","hgnc":"29079","ensembl":"ENSG00000004487","omim":"609132","loci":["1p36.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-25","source":"32053747[PMID]_25945066[PMID]_32115357[PMID]","terms":[{"hpo":"HP:0008231","label":"Macronodular adrenal hyperplasia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002920","label":"Decreased circulating ACTH level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0500011","label":"Moon facies","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:0031077","label":"Abnormal response to corticotropin releasing hormone stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025383","label":"Dorsocervical fat pad","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001952","label":"Glucose intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012030","label":"Increased urinary cortisol level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003466","label":"Paradoxical increased cortisol secretion on dexamethasone suppression test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001050","label":"Plethora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007126","label":"Proximal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001065","label":"Striae distensae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100754","label":"Mania","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000725","label":"Psychotic episodes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000859","label":"Increased circulating aldosterone concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100634","label":"Neuroendocrine neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008200","label":"Primary hyperparathyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005584","label":"Renal cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}