. . "1096445"^^ . "El s\u00EDndrome LEOPARD, tambi\u00E9n llamado lentiginosis m\u00FAltiple, es una rara enfermedad de origen gen\u00E9tico y transmisi\u00F3n hereditaria seg\u00FAn un patr\u00F3n autos\u00F3mico dominante. La entidad fue individualizada en el a\u00F1o 1961."@es . . . . . . . . . "S\u00EDndrome LEOPARD"@ca . "6062461"^^ . . . . . "S\u00EDndrome LEOPARD"@es . . . "Zesp\u00F3\u0142 LEOPARD (ang. LEOPARD syndrome) \u2013 rzadki, uwarunkowany genetycznie, dziedziczony autosomalnie dominuj\u0105co zesp\u00F3\u0142 wad wrodzonych, spowodowany w wi\u0119kszo\u015Bci przypadk\u00F3w mutacj\u0105 w niereceptorowym genie koduj\u0105cym bia\u0142ko . Mutacje w tym samym genie odpowiadaj\u0105 za cz\u0119\u015B\u0107 przypadk\u00F3w zespo\u0142u Noonan; s\u0105 to zatem schorzenia alleliczne. Nazwa zespo\u0142u jest akronimem utworzonym z pierwszych nazw g\u0142\u00F3wnych objaw\u00F3w choroby w j\u0119zyku angielskim: plam soczewicowatych na sk\u00F3rze (Lentiginosis), nieprawid\u0142owego obrazu EKG (ECG), hiperteloryzmu ocznego (Ocular hypertelorism), zw\u0119\u017Cenia uj\u015Bcia p\u0142ucnego (Pulmonary stenosis), nieprawid\u0142owo\u015Bci narz\u0105d\u00F3w p\u0142ciowych zewn\u0119trznych (Abnormal genitalia), zahamowania wzrostu (Retardation of growth) i czuciowo-nerwowej utraty s\u0142uchu (Deafness). U jednego pacjenta mo\u017Ce wyst\u0119powa\u0107 kilka z tych objaw\u00F3w."@pl . . . . "El s\u00EDndrome LEOPARD, tambi\u00E9n llamado lentiginosis m\u00FAltiple, es una rara enfermedad de origen gen\u00E9tico y transmisi\u00F3n hereditaria seg\u00FAn un patr\u00F3n autos\u00F3mico dominante. La entidad fue individualizada en el a\u00F1o 1961."@es . . . . . "001473" . . "Le syndrome LEOPARD est une maladie g\u00E9n\u00E9tique associant des lentigines multiples, des anomalies de la conduction cardiaque, un hypert\u00E9lorisme, une st\u00E9nose de la valve pulmonaire, des anomalies g\u00E9nitales, un retard de croissance et une surdit\u00E9. Le syndrome a \u00E9t\u00E9 individualis\u00E9 en 1969. Le terme LEOPARD est un acronyme constitu\u00E9 \u00E0 partir des signes cliniques (en anglais) de ce syndrome."@fr . . . . . . "151100"^^ . . "La sindrome LEOPARD, o lentigginosi cardiomiopatica progressiva, \u00E8 una malattia genetica caratterizzata da un insieme di malformazioni scheletriche e cardiache associate alla presenza sulla pelle di lentiggini. La malattia venne descritta per la prima volta nel 1936 da Zeisler e Becker come associazione di lentiggini, ipertelorismo, petto carenato e prognatismo; osservazioni successive permisero l'associazione di tali caratteristiche somatiche con i difetti scheletrici e cardiovascolari, ma fu Gorlin che nel 1969 coni\u00F2 il termine LEOPARD come acronimo che indica sette caratteristiche cliniche e che riconduce anche all'aspetto \"macchiato\" della pelle dei pazienti per la presenza delle lentiggini."@it . . "La s\u00EDndrome LEOPARD (tamb\u00E9 coneguda com a s\u00EDndrome cardiocutani, s\u00EDndrome de Gorlin II, s\u00EDndrome de lentiginosi profusa, lentiginosi cardiomiop\u00E0tica progressiva, s\u00EDndrome de Caputo-Rimoin-Konigsmark-Esterly-Richardson, o s\u00EDndrome de Moynahan) - forma part d'un grup anomenat s\u00EDndromes Ras/MAPK - \u00E9s una rara malaltia heredit\u00E0ria autos\u00F2mica dominant, multisist\u00E8mica causada per una mutaci\u00F3 en la , codificada pel gen no-receptor de tipus 11. La malaltia \u00E9s un conjunt de caracter\u00EDstiques, sobretot afecten la pell, els sistemes esquel\u00E8tic i cardiovascular, que pot o no estar present en tots els pacients. La naturalesa de com la mutaci\u00F3 fa que apareguin cadascun dels s\u00EDmptomes de la malaltia no \u00E9s ben coneguda, per\u00F2 la investigaci\u00F3 est\u00E0 en curs. En relaci\u00F3 amb la s\u00EDndrome de Noonan, la s\u00EDndrome de LEOPARD \u00E9s causada per una diferent del mateix gen. La s\u00EDndrome de Noonan \u00E9s bastant comuna (1:1.000 a 1:2.500 nascuts vius), i la neurofibromatosi I (que es creia estar relacionada amb la s\u00EDndrome LEOPARD) tamb\u00E9 \u00E9s comuna (1:3.500), per\u00F2, no hi ha dades epidemiol\u00F2giques de la s\u00EDndrome LEOPARD."@ca . . 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"Das LEOPARD-Syndrom bezeichnet angeborene Fehlbildungen von Herz und Haut und wird deshalb auch \u201Ekardiokutanes Syndrom\u201C genannt. Es handelt sich hierbei um eine Variante des Noonan-Syndroms, bei der Pulmonalstenose und hypertrophe Kardiomyopathie den hervorstechenden kardialen Ph\u00E4notyp darstellen. Zur H\u00E4lfte kommen das LEOPARD- und das Noonan-Syndrom sporadisch, zur H\u00E4lfte autosomal-dominant vererbt vor. Das verantwortliche Gen ist auf dem Chromosom 12q22 gelegen und verschl\u00FCsselt die Synthese von Protein-Tyrosin-Phosphatase, nonreceptor Typ 11 (PTPN11). LEOPARD als Akronym steht f\u00FCr:"@de . . . . . . 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"article"@en . . . . . . "Zesp\u00F3\u0142 LEOPARD (ang. LEOPARD syndrome) \u2013 rzadki, uwarunkowany genetycznie, dziedziczony autosomalnie dominuj\u0105co zesp\u00F3\u0142 wad wrodzonych, spowodowany w wi\u0119kszo\u015Bci przypadk\u00F3w mutacj\u0105 w niereceptorowym genie koduj\u0105cym bia\u0142ko . Mutacje w tym samym genie odpowiadaj\u0105 za cz\u0119\u015B\u0107 przypadk\u00F3w zespo\u0142u Noonan; s\u0105 to zatem schorzenia alleliczne. Nazwa zespo\u0142u jest akronimem utworzonym z pierwszych nazw g\u0142\u00F3wnych objaw\u00F3w choroby w j\u0119zyku angielskim: plam soczewicowatych na sk\u00F3rze (Lentiginosis), nieprawid\u0142owego obrazu EKG (ECG), hiperteloryzmu ocznego (Ocular hypertelorism), zw\u0119\u017Cenia uj\u015Bcia p\u0142ucnego (Pulmonary stenosis), nieprawid\u0142owo\u015Bci narz\u0105d\u00F3w p\u0142ciowych zewn\u0119trznych (Abnormal genitalia), zahamowania wzrostu (Retardation of growth) i czuciowo-nerwowej utraty s\u0142uchu (Deafness). U jednego pacjenta mo\u017Ce wyst"@pl . . "NBK1383"@en . . . . "Zesp\u00F3\u0142 LEOPARD"@pl . . "La sindrome LEOPARD, o lentigginosi cardiomiopatica progressiva, \u00E8 una malattia genetica caratterizzata da un insieme di malformazioni scheletriche e cardiache associate alla presenza sulla pelle di lentiggini. La malattia venne descritta per la prima volta nel 1936 da Zeisler e Becker come associazione di lentiggini, ipertelorismo, petto carenato e prognatismo; osservazioni successive permisero l'associazione di tali caratteristiche somatiche con i difetti scheletrici e cardiovascolari, ma fu Gorlin che nel 1969 coni\u00F2 il termine LEOPARD come acronimo che indica sette caratteristiche cliniche e che riconduce anche all'aspetto \"macchiato\" della pelle dei pazienti per la presenza delle lentiggini."@it . "LEOPARD Syndrome"@en . . . . . . . . . . . . . "Le syndrome LEOPARD est une maladie g\u00E9n\u00E9tique associant des lentigines multiples, des anomalies de la conduction cardiaque, un hypert\u00E9lorisme, une st\u00E9nose de la valve pulmonaire, des anomalies g\u00E9nitales, un retard de croissance et une surdit\u00E9. Le syndrome a \u00E9t\u00E9 individualis\u00E9 en 1969. Le terme LEOPARD est un acronyme constitu\u00E9 \u00E0 partir des signes cliniques (en anglais) de ce syndrome."@fr . . . . . . "Noonan syndrome with multiple lentigines"@en . . . "7387" . . "La s\u00EDndrome LEOPARD (tamb\u00E9 coneguda com a s\u00EDndrome cardiocutani, s\u00EDndrome de Gorlin II, s\u00EDndrome de lentiginosi profusa, lentiginosi cardiomiop\u00E0tica progressiva, s\u00EDndrome de Caputo-Rimoin-Konigsmark-Esterly-Richardson, o s\u00EDndrome de Moynahan) - forma part d'un grup anomenat s\u00EDndromes Ras/MAPK - \u00E9s una rara malaltia heredit\u00E0ria autos\u00F2mica dominant, multisist\u00E8mica causada per una mutaci\u00F3 en la , codificada pel gen no-receptor de tipus 11. La malaltia \u00E9s un conjunt de caracter\u00EDstiques, sobretot afecten la pell, els sistemes esquel\u00E8tic i cardiovascular, que pot o no estar present en tots els pacients. La naturalesa de com la mutaci\u00F3 fa que apareguin cadascun dels s\u00EDmptomes de la malaltia no \u00E9s ben coneguda, per\u00F2 la investigaci\u00F3 est\u00E0 en curs."@ca . . "1473"^^ . "NBK1383" . "151100"^^ . "LEOPARD-Syndrom"@de . . . "Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal dominant, multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, which may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known; however, research is ongoing. It is a RASopathy."@en . . . . . "Noonan syndrome with multiple lentigines (NSML)"@en . . . . "article"@en . "LEOPARD syndrome, cardiocutaneous syndrome, Gorlin syndrome II, lentiginosis profusa syndrome, progressive cardiomyopathic lentiginosis, Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, Moynahan syndrome"@en . . . "Sindrom Noonan dengan banyak lentigin (Noonan syndrome with multiple lentigines, NSML) adalah penyakit multisistem dominan autosomal yang jarang, disebabkan oleh mutasi pada gen protein tyrosine phosphatase, non-receptor type 11 (PTPN11). Penyakit ini mempengaruhi multisistem kompleks, sebagian besar melibatkan kulit, kerangka, dan sistem kardiovaskular. Bagaimana mutasi menyebabkan masing-masing gejala tidak diketahui dengan baik; namun, saat ini sedang terus diteliti. Penyakit ini adalah RASopati, atau kelompok dari sindrom jalur Ras/MAPK. Sindrom Noonan dengan banyak lentigin disebabkan oleh mutasi missense yang berbeda dari gen yang sama. Sindrom Noonan cukup umum (1:1.000 hingga 1:2.500 kelahiran hidup), dan penyakit neurofibromatosis 1 (yang pernah dianggap terkait dengan NSML) juga umum (1:3500). Namun, tidak ada data epidemiologi untuk NSML."@in . . . "Sindrome LEOPARD"@it . . . . . . . . . . . . . . "1089305816"^^ . "19164"^^ . . . . . "1096445"@en . . "Sindrom Noonan dengan banyak lentigin (Noonan syndrome with multiple lentigines, NSML) adalah penyakit multisistem dominan autosomal yang jarang, disebabkan oleh mutasi pada gen protein tyrosine phosphatase, non-receptor type 11 (PTPN11). Penyakit ini mempengaruhi multisistem kompleks, sebagian besar melibatkan kulit, kerangka, dan sistem kardiovaskular. Bagaimana mutasi menyebabkan masing-masing gejala tidak diketahui dengan baik; namun, saat ini sedang terus diteliti. Penyakit ini adalah RASopati, atau kelompok dari sindrom jalur Ras/MAPK."@in . . . . . . "7387"^^ . . . . . . . . . . . . . . . "Das LEOPARD-Syndrom bezeichnet angeborene Fehlbildungen von Herz und Haut und wird deshalb auch \u201Ekardiokutanes Syndrom\u201C genannt. Es handelt sich hierbei um eine Variante des Noonan-Syndroms, bei der Pulmonalstenose und hypertrophe Kardiomyopathie den hervorstechenden kardialen Ph\u00E4notyp darstellen. Zur H\u00E4lfte kommen das LEOPARD- und das Noonan-Syndrom sporadisch, zur H\u00E4lfte autosomal-dominant vererbt vor. Das verantwortliche Gen ist auf dem Chromosom 12q22 gelegen und verschl\u00FCsselt die Synthese von Protein-Tyrosin-Phosphatase, nonreceptor Typ 11 (PTPN11). LEOPARD als Akronym steht f\u00FCr: \n* Lentiginose \n* EKG-Ver\u00E4nderungen: Schenkelblock \n* Okul\u00E4r: Hypertelorismus \n* Pulmonalstenose und subvalvul\u00E4re Aortenstenose \n* Anomalien der Geschlechtsorgane: Hypospadie, Kryptorchismus, Keimdr\u00FCsenunterdr\u00FCckung \n* Retardiertes Wachstum: Skelettanomalien wie Trichterbrust, Scapula alata, \u00DCberstreckbarkeit der Gelenke \n* Taubheit (englisch deafness) sensorineural Die Lentigines weisen (wie beim Peutz-Jeghers-Syndrom) auf eine systemische Erkrankung hin. Sie entstehen zu Hunderten im Kindesalter auf der gesamten K\u00F6rperoberfl\u00E4che, blassen mit zunehmendem Alter im Gesicht ab, nicht aber in der Mundh\u00F6hle. Die Behandlung des Syndroms erfolgt symptomatisch."@de . . . . . . . . "Syndrome LEOPARD"@fr . . . . "Sindrom Noonan dengan banyak lentigin"@in . . "Noonan syndrome with multiple lentigines"@en . . . . . . . . . "\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0646\u0648\u0646\u0627\u0646 \u0630\u0627\u062A \u0627\u0644\u062A\u0635\u0628\u063A\u0627\u062A \u0627\u0644\u0645\u062A\u0639\u062F\u062F\u0629"@ar . . . "Three-quarter facial view, first-generation patient showing slight prognathism and low set ears"@en . "Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal dominant, multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, which may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known; however, research is ongoing. It is a RASopathy. Noonan syndrome with multiple lentigines is caused by a different missense mutation of the same gene. Noonan syndrome is fairly common (1:1,000 to 1:2,500 live births), and neurofibromatosis 1 (which was once thought to be related to NSML) is also common (1:3500); however, no epidemiological data exists for NSML."@en . . . . . . . . . . . . . . . "LEOPARD Syndrome"@en .