{"orpha":641613,"name":"Endogenous Cushing syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Endogenous CS"],"definition":"A rare group of endocrine disorders caused by prolonged and high exposure levels to glucocorticoids of endogenous (adrenal cortex production) origin. Typical clinical features are truncal and facial obesity, hypercatabolic syndrome (thinned skin, purple striae, ecchymosis, bruising with no obvious trauma, proximal muscle weakness with amyotrophy, osteoporosis) and, in children, weight gain with decreasing growth velocity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-641613/","orphanet_url":"https://www.orpha.net/en/disease/detail/641613","names":{"fr":{"name":"Syndrome de Cushing endogène","definition":"Groupe rare de maladies endocriniennes dues à une exposition prolongée et forte à des glucocorticoïdes d'origine endogène (production du cortex surrénal). Les manifestations cliniques caractéristiques sont une obésité tronculaire et faciale, un syndrome hypercatabolique (peau fine, stries violettes, ecchymoses, bleus sans traumatisme évident, faiblesse musculaire proximale avec amyotrophie, ostéoporose) et, chez les enfants, une prise de poids avec une vitesse de croissance décroissante."},"de":{"name":"Cushing-Syndrom, endogenes","synonyms":["Endogenes CS"],"definition":"Eine seltene Gruppe von endokrinen Störungen, die durch eine lang anhaltende und hohe Exposition gegenüber Glukokortikoiden endogenen Ursprungs (Produktion in der Nebennierenrinde) verursacht werden. Typische klinische Merkmale sind Adipositas am Rumpf und im Gesicht, hyperkatabolisches Syndrom (verdünnte Haut, violette Striemen, Ekchymose, Blutergüsse ohne offensichtliches Trauma, proximale Muskelschwäche mit Amyotrophie, Osteoporose) und bei Kindern Gewichtszunahme mit abnehmender Wachstumsgeschwindigkeit."},"es":{"name":"Síndrome de Cushing endógeno","synonyms":["SC endógeno"],"definition":"Es un grupo poco frecuente de trastornos endocrinos causados por una exposición prolongada y a niveles altos de glucocorticoides de origen endógeno (producidos en la corteza suprarrenal). Las características clínicas típicas son obesidad faciotroncular, síndrome hipercatabólico (piel adelgazada, estrías moradas, equimosis, hematomas sin evidencia de traumatismo, debilidad de los músculos proximales con amiotrofia, osteoporosis) y, en pacientes pediátricos, aumento de peso con disminución en la velocidad de crecimiento."},"it":{"name":"Sindrome di Cushing endogena","synonyms":["SC endogena"]},"nl":{"name":"Endogeen syndroom van Cushing","synonyms":["Endogeen CS"],"definition":"Een zeldzame groep van endocriene aandoeningen veroorzaakt door langdurige blootstelling aan hoge gehaltes van glucocorticoïden van endogene (productie in bijnierschors) oorsprong. Typische klinische kenmerken zijn truncale en faciale obesitas, hyperkatabool syndroom (dunne huid, paarse striae, ecchymose, kneuzing zonder duidelijk trauma, zwakte van proximale spieren met amyotrofie, osteoporose) en, bij kinderen, gewichtstoename met verlaagde groeisnelheid."},"pt":{"name":"Síndrome Cushing endógena","synonyms":["CS endógena"],"definition":"Grupo raro de distúrbios endócrinos causados ​​por níveis de exposição prolongados e altos a glicocorticoides de origem endógena (produção do córtex adrenal). As características clínicas típicas são obesidade facial e troncular, síndrome hipercatabólica (pele mais fina, estrias roxas, equimoses, hematomas sem trauma óbvio, fraqueza muscular proximal com amiotrofia, osteoporose) e, em crianças, ganho de peso com diminuição da velocidade de crescimento."},"pl":{"name":"Rzadki endogenny zespół Cushinga","synonyms":["Endogenny zespół Cushinga"]},"cs":{"name":"Endogenní Cushingův syndrom","synonyms":["Endogenous CS"]},"uk":{"name":"Ендогенний синдром Кушинга","synonyms":["Ендогенний CS"],"definition":"A rare group of endocrine disorders caused by prolonged and high exposure levels to glucocorticoids of endogenous (adrenal cortex production) origin. Typical clinical features are truncal and facial obesity, hypercatabolic syndrome (thinned skin, purple striae, ecchymosis, bruising with no obvious trauma, proximal muscle weakness with amyotrophy, osteoporosis) and, in children, weight gain with decreasing growth velocity."}},"xrefs":[{"source":"MONDO","code":"0957431","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5419158","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":553,"name":"OBSOLETE: Cushing syndrome","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":101954,"name":"Rare adrenal disease","classifications":[193]}],"children":[{"orpha":99892,"name":"ACTH-dependent Cushing syndrome","type":"Clinical group"},{"orpha":647758,"name":"Adrenal Cushing syndrome","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}