{"orpha":647782,"name":"Isolated micronodular adrenocortical disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["i-MAD"],"definition":"A rare adrenocortical nodular disease characterized by bilateral, multiple micronodules (<1&nbsp;cm), typically associated with endogenous Cushing syndrome, that occurs predominantly in children and young adults (females in majority). Pigmentation and inter-nodular adrenal cortical atrophy (histological findings present in primary pigmented nodular adrenocortical disease) are generally absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-647782/","orphanet_url":"https://www.orpha.net/en/disease/detail/647782","names":{"fr":{"name":"Maladie micronodulaire corticosurrénalienne isolée","synonyms":["Maladie micronodulaire cortico-surrénalienne isolée","Maladie micronodulaire des glandes surrénales isolée","i-MAD"],"definition":"Maladie nodulaire corticosurrénalienne rare caractérisée par de multiples micronodules bilatéraux (<1&nbsp;cm), typiquement associée au syndrome de Cushing endogène, survenant principalement chez les enfants et les jeunes adultes (majoritairement de sexe féminin). L'aspect histologique (pigmentation et atrophie corticosurrénalienne inter-nodulaire), qui est celui de la maladie corticosurrénalienne nodulaire pigmentée primaire, est généralement absent."},"de":{"name":"Isolierte mikronoduläre adrenokortikale Krankheit","synonyms":["Isolierte mikronoduläre Nebennierenrindenerkrankung","i-MAD"],"definition":"Eine seltene noduläre Nebennierenrindenerkrankung, die durch bilaterale, multiple Mikronodule (<1&nbsp;cm) gekennzeichnet ist und typischerweise mit dem endogenen Cushing-Syndrom einhergeht. Sie tritt vorwiegend bei Kindern und jungen Erwachsenen auf (in der Mehrzahl Frauen). Pigmentierung und interknotige Atrophie der Nebennierenrinde (histologische Befunde, die bei der primären pigmentierten nodulären Nebennierenrindenerkrankung auftreten) sind im Allgemeinen nicht vorhanden."},"es":{"name":"Enfermedad corticosuprarrenal micronodular aislada","synonyms":["Enfermedad adrenocortical micronodular aislada","i-MAD"],"definition":"Es una enfermedad corticosuprarrenal nodular poco frecuente caracterizada por micronódulos múltiples bilaterales (<1 cm), típicamente asociada con el síndrome de Cushing endógeno, que se presenta predominantemente en niños y adultos jóvenes (mayoritariamente mujeres). La pigmentación y la atrofia corticosuprarrenal internodular (hallazgos histológicos presentes en la enfermedad corticosuprarrenal nodular pigmentada primaria) generalmente están ausentes."},"it":{"name":"Malattia adrenocorticale micronodulare isolata","synonyms":["i-MAD"]},"nl":{"name":"Geïsoleerde micronodulaire adrenocorticale ziekte","synonyms":["i-MAD"],"definition":"Een zeldzame adrenocorticale nodulaire aandoening, gekenmerkt door bilaterale, multipele micronoduli (< 1 cm), doorgaans geassocieerd met endogeen syndroom van Cushing, die hoofdzakelijk optreedt bij kinderen en jonge volwassenen (waarvan de meerderheid vrouw is). Pigmentatie en internodulaire adrenale corticale atrofie (histologische bevindingen die aanwezig zijn bij primaire gepigmenteerde nodulaire adrenocorticale ziekte) zijn doorgaans afwezig."},"pt":{"name":"Doença adrenocortical micronodular isolada","synonyms":["i-MAD"]},"pl":{"name":"Izolowana mikroguzkowa choroba kory nadnerczy","synonyms":["i-MAD"],"definition":"Rzadka choroba guzkowa kory nadnerczy, charakteryzująca się obecnością obustronnych, licznych mikroguzków (inf 1 cm), zwykle związana z endogennym zespołem Cushinga, występująca głównie u dzieci i młodych dorosłych (w większości kobiet). Pigmentacja i międzyguzkowy zanik kory nadnerczy (objawy histologiczne obecne w pierwotnej barwikowej chorobie guzkowej kory nadnerczy) na ogół nie występują."},"cs":{"name":"Izolované mikronodulární adrenokortikální onemocnění","synonyms":["i-MAD"]},"uk":{"name":"Ізольоване мікровузлове захворювання кори надниркових залоз","synonyms":["i-MAD"]}},"xrefs":[{"source":"OMIM","code":"610475","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610489","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614190","qualifier":"NTBT","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":"attributed","validated":true},{"source":"MONDO","code":"0958263","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958263","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816756","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":649017,"name":"Rare adrenocortical nodular disease","classifications":[193,202]},{"orpha":647768,"name":"Rare adrenocortical nodular disease with Cushing syndrome as a major feature","classifications":[193]}],"children":[],"genes":[{"symbol":"PDE11A","name":"phosphodiesterase 11A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35992106[PMID]","hgnc":"8773","ensembl":"ENSG00000128655","omim":"604961","loci":["2q31.2"]},{"symbol":"PDE8B","name":"phosphodiesterase 8B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35992106[PMID]","hgnc":"8794","ensembl":"ENSG00000113231","omim":"603390","loci":["5q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}