{"orpha":319303,"name":"Chromophobe renal cell carcinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Chromophobe renal cell adenocarcinoma"],"definition":"Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319303/","orphanet_url":"https://www.orpha.net/en/disease/detail/319303","names":{"fr":{"name":"Carcinome rénal chromophobe","synonyms":["Adénocarcinome rénal chromophobe"],"definition":"Le carcinome rénal chromophobe est un sous-type rare de carcinome rénal qui se développe à partir des cellules intercalaires des canaux collecteurs. Il se manifeste sur le plan macroscopique par une tumeur solide très lobulée et bien circonscrite, et est généralement diagnostiqué précocement. Le carcinome est habituellement asymptomatique, ou peut se présenter par des signes non spécifiques, tels qu'une perte de poids, de la fièvre ou de la fatigue. Occasionnellement, il se présente par les signes classiques observés dans les tumeurs rénales (hématurie, douleur au flanc, masse palpable), et correspond généralement à un stade avancé de la maladie. Il est le plus souvent sporadique, cependant, plusieurs cas familiaux ont été décrits, associés au syndrome de Birt-Hogg-Dubé."},"de":{"name":"Nierenzellkarzinom, chromophobes","synonyms":["Chromophobes Adenokarzinom der Niere"],"definition":"Das chromophobe Nierenzellkarzinom ist ein seltener Subtyp des Nierenzellkarzinoms, der von den Interkalationszellen der Sammelkanäle ausgeht und sich makroskopisch als gut umschriebener, stark lobulierter, solider Tumor manifestiert, der meist in einem frühen Stadium diagnostiziert wird. Er ist häufig asymptomatisch oder kann mit unspezifischen Symptomen wie Gewichtsverlust, Fieber oder Müdigkeit auftreten. Die klassische Präsentation, die bei Nierentumoren beobachtet wird (Hämaturie, Flankenschmerzen und tastbare Masse), wird gelegentlich beobachtet und deutet meist auf ein fortgeschrittenes Stadium der Erkrankung hin. Am häufigsten tritt sie sporadisch auf, es wurden jedoch auch einige familiäre Fälle beschrieben, die mit dem Birt-Hogg-Dubé-Syndrom assoziiert sind."},"es":{"name":"Carcinoma de células renales cromófobo","synonyms":["Adenocarcinoma de células renales cromófobo"],"definition":"El carcinoma de células renales cromófobo es un subtipo poco frecuente de carcinoma de células renales procedente de las células intercaladas del túbulo colector que se manifiesta macroscópicamente como un tumor sólido, bien definido y multilobulado que, por lo general, se diagnostica en un estadío temprano. Por lo habitual, es asintomático o puede presentarse con síntomas inespecíficos tales como pérdida de peso, fiebre o fatiga. La presentación clásica descrita en los tumores renales (hematuria, dolor en el costado y masa palpable) se observa ocasionalmente e indica, por lo general, un estadio avanzado de la enfermedad. Más frecuentemente es esporádica, aunque se han descrito varios casos familiares asociados con el síndrome de Birt-Hogg Dubé."},"it":{"name":"Carcinoma cromofobo delle cellule renali","synonyms":["Adenocarcinoma cromofobo delle cellule renali"],"definition":"Il carcinoma a cromofobo delle cellule renali è un sottotipo raro di carcinoma delle cellule renali, che origina dalle cellule intercalate dei dotti collettori; dal punto di vista macroscopico, si manifesta come un tumore solido circoscritto, molto lobulato, che di solito viene diagnosticato precocemente. Spesso è asintomatico oppure esordisce con sintomi aspecifici, come la perdita di peso, la febbre o l'affaticamento. Il quadro clinico classico dei tumori renali (ematuria, dolore al fianco e massa palpabile) è presente solo in rari casi e di solito indica che la malattia è in uno stadio avanzato. In genere è sporadico, anche se sono stati descritti diversi casi familiari associati alla sindrome di Birt-Hogg Dubé."},"nl":{"name":"Chromofoob niercelcarcinoom","synonyms":["Chromofoob nierceladenocarcinoom"],"definition":"Chromofoob niercelcarcinoom is een zeldzaam subtype van niercelcarcinoom dat ontstaat uit de intercalerende cellen van de verzamelkanalen en dat zich macroscopisch manifesteert als een goed begrensde, sterk gelobde, solide tumor, die meestal in een vroeg stadium wordt gediagnosticeerd. Patiënten zijn geregeld asymptomatisch, of kunnen niet-specifieke symptomen vertonen, zoals gewichtsverlies, koorts of vermoeidheid. Het klassieke beeld dat wordt geobserveerd bij renale tumoren (hematurie, pijn in de zij en tastbare massa) wordt soms waargenomen en duidt meestal op een gevorderd stadium van de ziekte. De aandoening is meestal sporadisch, hoewel er ook enkele familiale gevallen, geassocieerd met syndroom van Birt-Hogg-Dubé, werden beschreven."},"pt":{"name":"Carcinoma de células renais cromófobas"},"pl":{"name":"Rak chromofobowy nerkowokomórkowy","synonyms":["Chromophobe renal cell adenocarcinoma"]},"cs":{"name":"Chromofobní karcinom ledviny","synonyms":["Chromofobní adenokarcinom ledviny"]},"uk":{"name":"Хромофобна нирковоклітинна карцинома","synonyms":["Хромофобна нирковоклітинна аденокарцинома"],"definition":"Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described."},"zh":{"name":"嫌色性肾细胞癌","synonyms":["嫌色性肾细胞腺癌"],"definition":"嗜铬肾细胞癌是一种罕见的肾细胞癌亚型，起源于集合管的夹层细胞，并且在肉眼上表现为界限分明，高度分叶的实体瘤，通常在早期得到诊断。 它通常是无症状的，或表现为非特异性症状，例如体重减轻，发烧或疲劳。 偶可观察到肾脏肿瘤的经典表现（血尿，胁腹痛和可触及的肿块），而这通常表明已进入晚期。 该病通常散发，但是已经报道了一些与Birt-HoggDubÚ综合征相关的家族性病例。"},"tr":{"name":"Kromofob renal hücreli karsinom","synonyms":["Kromofob böbrek hücreli adenokarsinom"]}},"xrefs":[{"source":"ICD-10","code":"C64","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C90.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"XH6153","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"455649353"},{"source":"MONDO","code":"0017885","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1266042","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6064","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080544","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":217071,"name":"Renal cell carcinoma","classifications":[188,202,233]}],"children":[],"genes":[{"symbol":"HNF1A","name":"HNF1 homeobox A","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Not yet assessed","source":"8620471[PMID]_15649945[PMID]","hgnc":"11621","ensembl":"ENSG00000135100","omim":"142410","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}