{"orpha":96253,"name":"Cushing disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Corticotroph pituitary adenoma","Pituitary corticotroph micro-adenoma","Pituitary-dependent Cushing syndrome"],"definition":"A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of adrenocorticotropic hormone (ACTH) due to a pituitary corticotroph adenoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-96253/","orphanet_url":"https://www.orpha.net/en/disease/detail/96253","names":{"fr":{"name":"Maladie de Cushing","synonyms":["Adénome corticotrope hypophysaire","Syndrome de Cushing dépendant de l'ACTH hypophysaire"],"definition":"Forme de syndrome de Cushing dépendant de l'ACTH, un syndrome de Cushing endogène, caractérisée par une hypersécrétion chronique de l'hormone adrénocorticotrope (ACTH) due à un adénome corticotrope hypophysaire."},"de":{"name":"Cushing-Krankheit","synonyms":["Cushing-Syndrom, hypophysäres","Hypophysenadenom, kortikotropes","Mikroadenom, hypophysäres kortikotropes"],"definition":"Eine Form des adrenokortikotropen Hormon (ACTH)-abhängigen Cushing-Syndroms (CS), das als endogenes CS bezeichnet wird und durch eine chronische Übersekretion von ACTH aufgrund eines kortikotropen Hypophysenadenoms gekennzeichnet ist."},"es":{"name":"Enfermedad de Cushing","synonyms":["Adenoma hipofisario corticotropo","Micro-adenoma corticotropo hipofisario","Sindrome de Cushing hipofisario dependiente"],"definition":"Es una forma del síndrome de Cushing dependiente de la hormona adrenocorticotrópica (ACTH), un síndrome de Cushing (SC) endógeno caracterizado por la hipersecreción crónica de hormona adrenocorticotrópica (ACTH) por un adenoma hipofisario corticotropo."},"it":{"name":"Malattia di Cushing","synonyms":["Adenoma corticotropo ipofisario","Micro-adenoma corticotropo ipofisario","Sindrome di Cushing dipendente dall'ipofisi"],"definition":"La malattia di Cushing (CD) è la causa più comune della sindrome di Cushing (CS) endogena ed è dovuta all'ipersecrezione ipofisaria cronica di ACTH causata da un adenoma corticotropo ipofisario."},"nl":{"name":"Ziekte van Cushing","synonyms":["Corticotroop hypofyseadenoom","Hypofysair corticotroop microadenoom","Hypofyseafhankelijk syndroom van Cushing"],"definition":"Een vorm van adrenocorticotroop hormoon (ACTH)-afhankelijk syndroom van Cushing, een endogeen syndroom van Cushing (CS), gekenmerkt door chronische overmatige secretie van adrenocorticotroop hormoon (ACTH) door een corticotroop hypofyseadenoom."},"pt":{"name":"Doença Cushing","definition":"Forma de síndrome Cushing dependente da hormona adrenocorticotrófica (ACTH), uma síndrome Cushing (SC) endógena, caracterizada pela secreção excessiva crónica da hormona adrenocorticotrófica (ACTH) devido a um adenoma corticotrófico hipofisário."},"pl":{"name":"Choroba Cushinga","synonyms":["Kortykotropowy gruczolak przysadki","Kortykotropowy mikrogruczolak przysadki","Zespół Cushinga zależny od przysadki"]},"cs":{"name":"Cushingova choroba","synonyms":["Kortikotropní adenom hypofýzy","Kortikotropní mikroadenom hypofýzy","Cushingův syndrom závislý na hypofýze","Centrální Cushingův syndrom"]},"uk":{"name":"Хвороба Кушинга","synonyms":["Кортикотрофна аденома гіпофіза","Кортикотрофна мікроаденома гіпофіза","Гіпофізарно-залежний синдром Кушинга"],"definition":"A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of adrenocorticotropic hormone (ACTH) due to a pituitary corticotroph adenoma."},"zh":{"name":"库欣病","synonyms":["垂体依赖性库欣综合征"],"definition":"库欣病（CD）是内源性库欣综合征（CS）最常见的病因，是由垂体促肾上腺皮质激素腺瘤引起的慢性垂体促肾上腺皮质激素分泌过度所致。"},"tr":{"name":"Cushing hastalığı","synonyms":["Kortikotrof hipofiz adenomu","Hipofiz kortikotrof mikro-adenom","Hipofiz-bağımlı Cushing sendromu"]}},"xrefs":[{"source":"OMIM","code":"219090","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D35.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"E24.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5A70.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"380861892"},{"source":"MONDO","code":"0009050","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9050","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D047748","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221406","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12867","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10035109","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":314753,"name":"Functioning pituitary adenoma","classifications":[193,202]},{"orpha":715120,"name":"Hyperpituitarism","classifications":[193]}],"children":[],"genes":[{"symbol":"ATRX","name":"ATRX chromatin remodeler","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"33106857[PMID]","hgnc":"886","ensembl":"ENSG00000085224","omim":"300032","loci":["Xq21.1"]},{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"30093687[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"]},{"symbol":"NR3C1","name":"nuclear receptor subfamily 3 group C member 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"34427636[PMID]","hgnc":"7978","ensembl":"ENSG00000113580","omim":"138040","loci":["5q31.3"]},{"symbol":"TP53","name":"tumor protein p53","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"35596671[PMID]_33221858[PMID]","hgnc":"11998","ensembl":"ENSG00000141510","omim":"191170","loci":["17p13.1"]},{"symbol":"USP48","name":"ubiquitin specific peptidase 48","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"30093687[PMID]","hgnc":"18533","ensembl":"ENSG00000090686","omim":"617445","loci":["1p36.12"]},{"symbol":"USP8","name":"ubiquitin specific peptidase 8","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25485838[PMID]","hgnc":"12631","ensembl":"ENSG00000138592","omim":"603158","loci":["15q21.2"]},{"symbol":"CDH23","name":"cadherin related 23","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"28413019[PMID]","hgnc":"13733","ensembl":"ENSG00000107736","omim":"605516","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Not yet validated","source":"22710101[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-22","source":"27104844[PMID]_27974908[PMID]_33329407[PMID]","terms":[{"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:0008291","label":"Pituitary corticotropic cell adenoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012743","label":"Abdominal obesity","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: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:0000819","label":"Diabetes mellitus","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:0030200","label":"Fatiguable weakness of proximal limb muscles","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:0040270","label":"Impaired glucose tolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","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:0031845","label":"Abnormal libido","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031364","label":"Ecchymosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002690","label":"Large sella turcica","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033505","label":"Livedo reticularis","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:0000876","label":"Oligomenorrhea","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:0010885","label":"Avascular necrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007807","label":"Optic nerve compression","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:0000709","label":"Psychosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Very rare (<4-1%)","criteria":null}]}}