{"orpha":100093,"name":"Carcinoid syndrome","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Malignant carcinoid syndrome"],"definition":"A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100093/","orphanet_url":"https://www.orpha.net/en/disease/detail/100093","names":{"fr":{"name":"Syndrome carcinoïde","synonyms":["Syndrome carcinoïde malin"],"definition":"Maladie néoplasique rare caractérisée par la survenue d'un syndrome hormonal dû à la sécrétion de facteurs humoraux (dont polypeptides, amines vasomotrices et prostaglandines) par une tumeur neuroendocrine fonctionnelle (notamment de l'intestin moyen), se manifestant généralement par une augmentation de la fréquence des selles et des diarrhées, des bouffées vasomotrices épisodiques (notamment au niveau du visage), une hypotension, une tachycardie, une télangiectasie veineuse, une dyspnée et des bronchospasmes, évoluant à terme vers une fibrose du mésentère, du rétropéritoine et des valves cardiaques."},"de":{"name":"Karzinoides Syndrom","synonyms":["Karzinoidsyndrom, malignes"],"definition":"Eine seltene Neoplasie, die durch das Auftreten eines hormonellen Syndroms gekennzeichnet ist, das durch die Sekretion von humoralen Faktoren (einschließlich Polypeptiden, vasoaktiven Aminen und Prostaglandinen) aus einem funktionellen neuroendokrinen Tumor (insbesondere aus dem Mitteldarm) entsteht. Es äußert sich typischerweise durch vermehrten Stuhlgang und Durchfall, episodische vasoaktive Flushs (insbesondere im Gesicht), Hypotonie, Tachykardie, venöse Teleangiektasien, Dyspnoe und Bronchospasmen sowie langfristige fibrotische Veränderungen im Mesenterium, Retroperitoneum und an den Herzklappen."},"es":{"name":"Síndrome carcinoide","synonyms":["Síndrome carcinoide maligno"],"definition":"Es una enfermedad neoplásica poco frecuente caracterizada por la aparición de un síndrome hormonal resultante de la secreción de factores humorales (tales como polipéptidos, aminas vasoactivas y prostaglandinas) por un tumor neuroendocrino funcionante (en particular del intestino medio). Típicamente se manifiesta con un incremento de los movimientos intestinales y diarrea, sofocos vasoactivos episódicos (especialmente en la cara), hipotensión, taquicardia, telangiectasia venosa, disnea y broncoespasmo, así como cambios fibróticos a largo plazo en el mesenterio, el retroperitoneo y las válvulas cardíacas."},"it":{"name":"Sindrome del carcinoide","definition":"È una neoplasia rara, caratterizzata da una sindrome ormonale, secondaria alla secrezione di fattori umorali (compresi i polipeptidi, le amine vasoattive e le prostaglandine) da parte di un tumore neuroendocrino funzionante (localizzato per lo più nell'intestino medio). Di solito esordisce con un aumento dei movimenti intestinali, diarrea, episodi di arrossamento vasoattivo (in particolare del viso), ipotensione, tachicardia, telangectasia venosa, dispnea, broncospasmi, alterazioni fibrotiche croniche nel mesentere, nel retroperitoneo e nelle valvole cardiache."},"nl":{"name":"Carcinoïdsyndroom","synonyms":["Maligne carcinoïdsyndroom"],"definition":"Een zeldzame, neoplastische ziekte die gekarakteriseerd wordt door het optreden van een hormonaal syndroom als gevolg van secretie van humorale factoren (waaronder polypeptiden, vasoactieve aminen, en prostaglandinen) uit een functionele neuro-endocriene tumor (voornamelijk van de middendarm), en die zich doorgaans manifesteert met toename van darmbewegingen en diarree, episodisch vasoactief blozen (voornamelijk in het gelaat), hypotensie, tachycardie, veneuze teleangiëctasie, dyspneu, en bronchospasmen, alsook langdurige fibrotische veranderingen in mesenterium, retroperitoneum en hartkleppen."},"pt":{"name":"Tumor carcinóide e síndrome carcinóide"},"pl":{"name":"Zespół rakowiaka","synonyms":["Złośliwy zespół rakowiaka"]},"cs":{"name":"Karcinoid a karcinoidový syndrom","synonyms":["Malignant carcinoid syndrome"]},"uk":{"name":"Карциноїдний синдром","synonyms":["Синдром злоякісного карциноїду"],"definition":"A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves."},"zh":{"name":"类癌综合征","synonyms":["恶性类癌综合征"],"definition":"类癌综合征一种罕见的肿瘤性疾病，其特征是由功能性神经内分泌肿瘤(尤其是中肠)分泌的体液因子(包括多肽、血管活性胺和前列腺素)引起的荷尔蒙综合征，典型的表现为肠蠕动增加和腹泻、间歇性血管活性潮红(尤其是面部)、低血压、心动过速、静脉毛细血管扩张、呼吸困难和支气管痉挛，以及长期的纤维组织改变，这些都是一种罕见的肿瘤性疾病，其特征是由功能性神经内分泌肿瘤(尤其是中肠)分泌的体液因子(包括多肽、血管活性胺和前列腺素)引起的激素综合征，典型的表现为肠运动增加和腹泻、间歇性血管活性潮红、低血压、心动过速、静脉毛细血管扩张、呼吸困难和支气管痉挛"},"tr":{"name":"Karsinoid sendrom","synonyms":["Habis karsinoid sendrom"]}},"xrefs":[{"source":"ICD-10","code":"E34.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5B10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"111763187"},{"source":"MONDO","code":"0100347","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008303","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024586","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5994","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10007270","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":877,"name":"Neuroendocrine neoplasm","classifications":[193,202]}],"children":[],"genes":[{"symbol":"SDHD","name":"succinate dehydrogenase complex subunit D","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"12007193[PMID]","hgnc":"10683","ensembl":"ENSG00000204370","omim":"602690","loci":["11q23.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-06","source":"22052063[PMID]_12007193[PMID]_5936207[PMID]_2920654[PMID]_10925383[PMID]_25865046[PMID]_25376364[PMID]","terms":[{"hpo":"HP:0100570","label":"Carcinoid tumor","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006723","label":"Intestinal carcinoid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030166","label":"Night sweats","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004385","label":"Protracted diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006722","label":"Small intestine carcinoid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031138","label":"Abnormal B-type natriuretic peptide level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:4000007","label":"Bronchoconstriction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002730","label":"Chronic noninfectious lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007380","label":"Facial telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030445","label":"Pulmonary carcinoid tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031417","label":"Rhinorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030446","label":"Atypical pulmonary carcinoid tumor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002605","label":"Hepatic necrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030145","label":"Lack of bowel sounds","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002668","label":"Paraganglioma","frequency":"Very rare (<4-1%)","criteria":null}]}}