{"orpha":647772,"name":"Isolated primary pigmented nodular adrenocortical disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated PPNAD","i-PPNAD"],"definition":"A rare adrenocortical nodular disease characterized by increased to normal sized adrenal glands containing multiple small (less than 1 cm in diameter) cortical pigmented (lipofuscin) nodules, surrounded by internodular adrenocortical atrophy. It is typically associated with the development of a form of adrenal Cushing syndrome (CS). Rarely, it has been associated with adrenal macronodules.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-647772/","orphanet_url":"https://www.orpha.net/en/disease/detail/647772","names":{"fr":{"name":"Maladie corticosurrénalienne nodulaire pigmentée primaire isolée","synonyms":["Maladie cortico-surrénalienne nodulaire pigmentée primaire isolée","PPNAD isolée","i-PPNAD"],"definition":"Maladie nodulaire corticosurrénalienne rare caractérisée par des glandes surrénales de taille normale ou supérieure contenant de multiples petits (moins de 1 cm de diamètre) nodules corticaux pigmentés (lipofuscine), entourés d'une atrophie corticosurrénalienne internodulaire. Elle est habituellement associée au développement d'une forme de syndrome de Cushing surrénalien. Dans de rares cas, elle a été associée à des macronodules surrénaliens."},"de":{"name":"Isolierte primäre pigmentierte noduläre Nebennierenrindenerkrankung","synonyms":["Isolierte PPNAD","Isolierte primäre pigmentierte noduläre adrenokortikale Krankheit","i-PPNAD"],"definition":"Eine seltene noduläre Erkrankung der Nebennierenrinde, die durch vergrößerte bis normal große Nebennieren gekennzeichnet ist, welche mehrere kleine (weniger als 1 cm im Durchmesser) kortikale, pigmentierte (Lipofuszin) Knötchen enthalten. Diese sind von einer internodulären Nebennierenrindenatrophie umgeben. In der Regel geht sie mit der Entwicklung einer Form des adrenalen Cushing-Syndroms (CS) einher. In seltenen Fällen wurde sie mit Makronoduli der Nebenniere in Verbindung gebracht."},"es":{"name":"Enfermedad corticosuprarrenal nodular pigmentada primaria aislada","synonyms":["Enfermedad adrenocortical nodular pigmentada primaria aislada","PPNAD aislada","i-PPNAD"],"definition":"Es una enfermedad corticosuprarrenal nodular poco frecuente caracterizada por glándulas suprarrenales de tamaño normal o aumentado que contienen múltiples nódulos corticales pequeños (menos de 1 cm de diámetro) pigmentados (lipofuscina), rodeados de tejido adrenocortical internodular atrófico. Por lo general, se asocia con el desarrollo de una forma de síndrome de Cushing suprarrenal (SC). Excepcionalmente se ha asociado con macronódulos suprarrenales"},"it":{"name":"Malattia adrenocorticale nodulare pigmentata primitiva isolata","synonyms":["PPNAD isolata","i-PPNAD"]},"nl":{"name":"Geïsoleerde primaire gepigmenteerde nodulaire adrenocorticale ziekte","synonyms":["Geïsoleerde PPNAD","i-PPNAD"],"definition":"Een zeldzame adrenocorticale nodulaire ziekte, gekenmerkt door bijnieren met normale tot toegenomen omvang die meerdere kleine (minder dan 1cm in diameter) corticale gepigmenteerde (lipofuscine) noduli bevatten, omringd door internodulaire adrenocorticale atrofie. Het is doorgaans geassocieerd met de ontwikkeling van een vorm van adrenaal syndroom van Cushing (CS). In zeldzame gevallen werd het ook reeds geassocieerd met adrenale macronoduli."},"pt":{"name":"Doença adrenocortical nodular pigmentada primária isolada","synonyms":["PPNAD isolada","i-PPNAD"],"definition":"Doença nodular adrenocortical rara caracterizada por glândulas suprarrenais normais ou aumentadas de tamanho contendo múltiplos nódulos pigmentados corticais (lipofuscina) pequenos (menos de 1 cm de diâmetro), cercados por atrofia adrenocortical internodular. É tipicamente associada ao desenvolvimento de uma forma de síndrome Cushing adrenal (SC). Raramente, tem sido associada a macronódulos adrenais."},"pl":{"name":"Izolowana pierwotna barwnikowa guzkowa choroba kory nadnerczy","synonyms":["Isolated PPNAD","i-PPNAD"]},"cs":{"name":"Izolované primární pigmentované nodulární onemocnění kůry nadledvin","synonyms":["Isolated PPNAD","i-PPNAD"]},"uk":{"name":"Ізольоване первинне пігментно-вузлове захворювання кори надниркових залоз","synonyms":["i-PPNAD","Ізольований PPNAD"]}},"xrefs":[{"source":"OMIM","code":"610475","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610489","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":"index","validated":true,"icd11_uri":"2003695246"},{"source":"MONDO","code":"0958262","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958262","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816750","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":189439,"name":"OBSOLETE: Primary pigmented nodular adrenocortical disease","status":"inactive"}],"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":"PRKAR1A","name":"protein kinase cAMP-dependent type I regulatory subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16464939[PMID]","hgnc":"9388","ensembl":"ENSG00000108946","omim":"188830","loci":["17q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}