. . . . . "Das Lowe-Syndrom, auch okulo-zerebro-renales Syndrom (OCRL) genannt, ist eine seltene, X-chromosomal vererbte Multisystemerkrankung."@de . . . . "D009800"@en . . "Zesp\u00F3\u0142 Lowe\u2019a (zesp\u00F3\u0142 oczno-m\u00F3zgowo-nerkowy, ang. oculocerebrorenal syndrome, Lowe syndrome) \u2013 uwarunkowany genetycznie zesp\u00F3\u0142 wad wrodzonych, na kt\u00F3rego fenotyp sk\u0142adaj\u0105 si\u0119 wrodzona za\u0107ma, jaskra, hipotonia mi\u0119\u015Bni szkieletowych, upo\u015Bledzenie umys\u0142owe i zesp\u00F3\u0142 Fanconiego (aminoacyduria, kwasica kanalikowa). Dziedziczenie zespo\u0142u jest recesywne sprz\u0119\u017Cone z chromosomem X. Spowodowany jest mutacj\u0105 w genie w locus Xq26.1. Mutacje w tym samym genie mog\u0105 powodowa\u0107 (OMIM#300009). Zesp\u00F3\u0142 jako pierwszy opisa\u0142 Charles Upton Lowe i wsp. w 1952 roku."@pl . "El s\u00EDndrome de Lowe o s\u00EDndrome cerebro oculo renal (LS) es una enfermedad rara, con una muy baja prevalencia que causa alteraciones f\u00EDsicas y ps\u00EDquicas en distinto grado. Esta enfermedad fue descrita por primera vez con el Dr. Charles Lowe y sus colegas. La penetrancia de la enfermedad es completa, con un fenotipo muy similar en todas las personas afectadas."@es . "Physical therapy, clomipramine"@en . . . "\u0421\u0438\u043D\u0434\u0440\u043E\u043C \u041B\u043E\u0443 (\u0430\u043D\u0433\u043B. Lowe syndrome) \u2014 \u0440\u0435\u0434\u043A\u043E\u0435 \u0440\u0435\u0446\u0435\u0441\u0441\u0438\u0432\u043D\u043E\u0435 X-\u0441\u0446\u0435\u043F\u043B\u0435\u043D\u043D\u043E\u0435 \u0437\u0430\u0431\u043E\u043B\u0435\u0432\u0430\u043D\u0438\u0435 \u0447\u0435\u043B\u043E\u0432\u0435\u043A\u0430, \u043E\u0442\u043D\u043E\u0441\u044F\u0449\u0430\u044F\u0441\u044F \u043A \u0433\u0440\u0443\u043F\u043F\u0435 \u0446\u0438\u043B\u0438\u043E\u043F\u0430\u0442\u0438\u0439."@ru . . "Oculocerebrorenal syndrome is X-linked recessive."@en . . . . . . . "\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0639\u064A\u0646\u064A\u0629 \u0645\u062E\u064A\u0629 \u0643\u0644\u0648\u064A\u0629 (\u0628\u0627\u0644\u0625\u0646\u062C\u0644\u064A\u0632\u064A\u0629: Oculocerebrorenal syndrome)\u200F (\u0648\u062A\u0633\u0645\u0649 \u0623\u064A\u0636\u064B\u0627 \u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0644\u0648\u064A) \u0647\u064A \u0627\u0636\u0637\u0631\u0627\u0628\u064C \u0646\u0627\u062F\u0631\u064C \u0645\u0631\u062A\u0628\u0637\u064C \u0628\u0627\u0644\u0623\u0643\u0633\u062C\u064A\u0646 \u0648\u064A\u062A\u0645\u064A\u0632 \u0628\u0627\u0639\u062A\u0627\u0645 \u0639\u062F\u0633\u0629 \u0627\u0644\u0639\u064A\u0646 \u0641\u064A \u0643\u0644\u062A\u0627 \u0627\u0644\u0639\u064A\u0646\u064A\u0646 \u0639\u0646\u062F \u0627\u0644\u0648\u0644\u0627\u062F\u0629\u060C \u0648\u0646\u0642\u0635 \u0627\u0644\u062A\u0648\u062A\u0631\u060C \u0648\u0627\u0644\u0625\u0639\u0627\u0642\u0629 \u0627\u0644\u0630\u0647\u0646\u064A\u0629\u060C \u0627\u0644\u062D\u0645\u0627\u0636 \u0627\u0644\u0623\u0646\u0628\u0648\u0628\u064A \u0627\u0644\u0642\u0631\u064A\u0628\u060C \u062A\u0642\u0631\u062D \u0627\u0644\u0642\u0631\u0646\u064A\u0629\u060C \u0627\u0644\u0643\u0633\u0627\u062D \u0648\u0645\u0642\u0627\u0648\u0645\u0629 \u0627\u0645\u062A\u0635\u0627\u0635 \u0641\u064A\u062A\u0627\u0645\u064A\u0646 \u062F\u060C \u0627\u0644\u0627\u0631\u062A\u062E\u0627\u0621\u060C \u0645\u0634\u0627\u0643\u0644 \u0641\u064A \u0627\u0644\u0643\u0644\u0649\u060C \u0648\u0646\u0642\u0635 \u0641\u064A \u0627\u0644\u0623\u0646\u0632\u064A\u0645\u0627\u062A. \u064A\u0645\u0643\u0646 \u0627\u0639\u062A\u0628\u0627\u0631 \u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0644\u0648\u064A \u0633\u0628\u0628\u0627\u064B \u0644\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0641\u0627\u0646\u0643\u0648\u0646\u064A (\u0627\u0644\u0628\u064A\u0643\u0627\u0631\u0628\u0648\u0646\u0627\u062A\u060C \u0627\u0644\u062D\u0645\u0627\u0636 \u0627\u0644\u0627\u0646\u0628\u0648\u0628\u064A \u0627\u0644\u0643\u0644\u0648\u064A\u060C \u0641\u0642\u062F\u0627\u0646 \u0627\u0644\u0628\u0648\u062A\u0627\u0633\u064A\u0648\u0645\u060C \u0648\u0641\u0642\u062F\u0627\u0646 \u0627\u0644\u0635\u0648\u062F\u064A\u0648\u0645 )."@ar . ""@en . "516"^^ . "Mutations in OCRL gene"@en . . "E72.0"@en . . "Lowe Syndrome"@en . "Zesp\u00F3\u0142 Lowe\u2019a (zesp\u00F3\u0142 oczno-m\u00F3zgowo-nerkowy, ang. oculocerebrorenal syndrome, Lowe syndrome) \u2013 uwarunkowany genetycznie zesp\u00F3\u0142 wad wrodzonych, na kt\u00F3rego fenotyp sk\u0142adaj\u0105 si\u0119 wrodzona za\u0107ma, jaskra, hipotonia mi\u0119\u015Bni szkieletowych, upo\u015Bledzenie umys\u0142owe i zesp\u00F3\u0142 Fanconiego (aminoacyduria, kwasica kanalikowa). Dziedziczenie zespo\u0142u jest recesywne sprz\u0119\u017Cone z chromosomem X. Spowodowany jest mutacj\u0105 w genie w locus Xq26.1. Mutacje w tym samym genie mog\u0105 powodowa\u0107 (OMIM#300009). Zesp\u00F3\u0142 jako pierwszy opisa\u0142 Charles Upton Lowe i wsp. w 1952 roku."@pl . . "516"@en . . . . . . "Das Lowe-Syndrom, auch okulo-zerebro-renales Syndrom (OCRL) genannt, ist eine seltene, X-chromosomal vererbte Multisystemerkrankung."@de . "Sindrom okuloserebrorenal"@in . "\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0639\u064A\u0646\u064A\u0629 \u0645\u062E\u064A\u0629 \u0643\u0644\u0648\u064A\u0629"@ar . . "Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss)."@en . . "Sindrom okuloserebrorenal (juga disebut sindrom Lowe) adalah kelainan resesif terkait-X yang langka yang ditandai dengan katarak kongenital, hipotonia, kecacatan intelektual, asidosis tubulus proksimal, aminoasiduria, dan proteinuria berat molekul rendah. Sindrom Lowe dapat dianggap sebagai penyebab sindrom Fanconi (bikarbonaturia, asidosis tubulus ginjal, hilangnya kalium dan natrium)."@in . . "Oculocerebrorenal syndrome"@en . "29146" . . "29146"^^ . "\uB85C\uC6B0 \uC99D\uD6C4\uAD70(Lowe syndrome, Oculocerebrorenal syndrome, \uB85C\uC6EC\uC99D\uD6C4\uAD70, \uB85C\uC6E8\uC99D\uD6C4\uAD70, \uB85C\uC774\uC99D\uD6C4\uAD70\uC774\uB77C\uACE0\uB3C4 \uD568)\uC740 \uB0A8\uC790\uC5D0\uAC8C \uC774\uD658\uB418\uB294 \uC544\uC8FC \uB4DC\uBB38 \uC720\uC804\uC9C8\uD658\uC73C\uB85C \uC778\uCCB4\uC5D0 \uC911\uC694\uD55C \uB300\uC0AC\uC7A5\uC560\uB85C \uC778\uD574 \uC2E0\uCCB4\uC801, \uC815\uC2E0\uC801, \uC758\uD559\uC801\uC778 \uBB38\uC81C\uB4E4\uC744 \uC720\uBC1C\uD55C\uB2E4. \uC99D\uC0C1\uC73C\uB85C\uB294 \uC120\uCC9C\uC131 \uBC31\uB0B4\uC7A5, \uB179\uB0B4\uC7A5, \uACE0\uB3C4\uC758 \uC815\uC2E0 \uBC1C\uC721\uC9C0\uC5F0, \uADFC\uAE34\uC7A5 \uC800\uD558, \uAC74\uBC18\uC0AC \uC18C\uC2E4, \uACBD\uB828 \uBC1C\uC791, \uC544\uBBF8\uB178\uC0B0\uB1E8(\u5C3F), \uC694\uC138\uAD00\uC131 \uC138\uD3EC\uC0AC(apoptosis), \uACE8\uC5F0\uD654 \uB4F1\uC744\uB098\uD0C0\uB0B4\uB294 X\uC5F0\uC1C4\uC131 \uC9C8\uD658. X\uC5FC\uC0C9\uCCB4 \uC7A5\uC644 25\uC601\uC5ED\uC5D0 \uC788\uB294OCRL-1\uB85C \uBA85\uBA85\uB41C \uC6D0\uC778\uC720\uC804\uC790 \uD6C4\uBCF4\uAC00 \uD074\uB860\uD654\uB418\uACE0 \uC788\uB2E4. \uB610 \uBBF8\uD1A0\uCF58\uB4DC\uB9AC\uC544 \uB300\uC0AC\uC774\uC0C1\uC774 \uC6D0\uC778\uC77C \uAC00\uB2A5\uC131\uB3C4 \uC788\uB2E4."@ko . "MRI, urinalysis"@en . . . . "Le syndrome de Lowe appel\u00E9 \u00E9galement OCRL (pour Oculo Cerebro Renal Lowe syndrome) a \u00E9t\u00E9 identifi\u00E9 en 1952 par le docteur et est caract\u00E9ris\u00E9 par diff\u00E9rents signes cliniques touchant principalement les yeux, le cerveau et le rein."@fr . . . . "Syndrome de Lowe"@fr . "El s\u00EDndrome de Lowe \u00E9s un trastorn recessiu rar vinculat a l'her\u00E8ncia lligada al sexe caracteritzat per cataractes cong\u00E8nites, hipotonia, discapacitat intel\u00B7lectual, acidosi tubular proximal, aminoacid\u00FAria i protein\u00FAria amb un baix pes molecular. Es pot considerar una causa de la s\u00EDndrome de Fanconi (bicarbonaturia, acidosi tubular renal, p\u00E8rdua de potassi i p\u00E8rdua de sodi )."@ca . "8576"^^ . . . . . . . "270.8"^^ . "S\u00EDndrome de Lowe"@pt . . . . . "NBK1480" . . "\u0421\u0438\u043D\u0434\u0440\u043E\u043C \u041B\u043E\u0443"@ru . . "Le syndrome de Lowe appel\u00E9 \u00E9galement OCRL (pour Oculo Cerebro Renal Lowe syndrome) a \u00E9t\u00E9 identifi\u00E9 en 1952 par le docteur et est caract\u00E9ris\u00E9 par diff\u00E9rents signes cliniques touchant principalement les yeux, le cerveau et le rein."@fr . "NBK1480"@en . "oph"@en . . . . "\uB85C\uC6B0 \uC99D\uD6C4\uAD70"@ko . . . . "Oculocerebrorenal syndrome"@en . . . . . "El s\u00EDndrome de Lowe \u00E9s un trastorn recessiu rar vinculat a l'her\u00E8ncia lligada al sexe caracteritzat per cataractes cong\u00E8nites, hipotonia, discapacitat intel\u00B7lectual, acidosi tubular proximal, aminoacid\u00FAria i protein\u00FAria amb un baix pes molecular. Es pot considerar una causa de la s\u00EDndrome de Fanconi (bicarbonaturia, acidosi tubular renal, p\u00E8rdua de potassi i p\u00E8rdua de sodi )."@ca . . "oph"@en . . . . . "Cataracts"@en . . . . "S\u00EDndrome de Lowe"@es . "D009800" . . . . . "S\u00EDndrome de Lowe, ou s\u00EDndrome oculocerebrorrenal, \u00E9 uma doen\u00E7a heredit\u00E1ria rara associada ao cromossomo X. Caracteriza-se por defeitos oculares (catarata e glaucoma); no sistema nervoso central (hipotonia generalizada com hiporreflexia e atraso mental severo) e altera\u00E7\u00F5es renais (disfun\u00E7\u00E3o tubular progressiva com acidose e hiperacidaminuria)."@pt . . "1078583726"^^ . "S\u00EDndrome de Lowe, ou s\u00EDndrome oculocerebrorrenal, \u00E9 uma doen\u00E7a heredit\u00E1ria rara associada ao cromossomo X. Caracteriza-se por defeitos oculares (catarata e glaucoma); no sistema nervoso central (hipotonia generalizada com hiporreflexia e atraso mental severo) e altera\u00E7\u00F5es renais (disfun\u00E7\u00E3o tubular progressiva com acidose e hiperacidaminuria)."@pt . . "534"^^ . . . . . . . . . "\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0639\u064A\u0646\u064A\u0629 \u0645\u062E\u064A\u0629 \u0643\u0644\u0648\u064A\u0629 (\u0628\u0627\u0644\u0625\u0646\u062C\u0644\u064A\u0632\u064A\u0629: Oculocerebrorenal syndrome)\u200F (\u0648\u062A\u0633\u0645\u0649 \u0623\u064A\u0636\u064B\u0627 \u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0644\u0648\u064A) \u0647\u064A \u0627\u0636\u0637\u0631\u0627\u0628\u064C \u0646\u0627\u062F\u0631\u064C \u0645\u0631\u062A\u0628\u0637\u064C \u0628\u0627\u0644\u0623\u0643\u0633\u062C\u064A\u0646 \u0648\u064A\u062A\u0645\u064A\u0632 \u0628\u0627\u0639\u062A\u0627\u0645 \u0639\u062F\u0633\u0629 \u0627\u0644\u0639\u064A\u0646 \u0641\u064A \u0643\u0644\u062A\u0627 \u0627\u0644\u0639\u064A\u0646\u064A\u0646 \u0639\u0646\u062F \u0627\u0644\u0648\u0644\u0627\u062F\u0629\u060C \u0648\u0646\u0642\u0635 \u0627\u0644\u062A\u0648\u062A\u0631\u060C \u0648\u0627\u0644\u0625\u0639\u0627\u0642\u0629 \u0627\u0644\u0630\u0647\u0646\u064A\u0629\u060C \u0627\u0644\u062D\u0645\u0627\u0636 \u0627\u0644\u0623\u0646\u0628\u0648\u0628\u064A \u0627\u0644\u0642\u0631\u064A\u0628\u060C \u062A\u0642\u0631\u062D \u0627\u0644\u0642\u0631\u0646\u064A\u0629\u060C \u0627\u0644\u0643\u0633\u0627\u062D \u0648\u0645\u0642\u0627\u0648\u0645\u0629 \u0627\u0645\u062A\u0635\u0627\u0635 \u0641\u064A\u062A\u0627\u0645\u064A\u0646 \u062F\u060C \u0627\u0644\u0627\u0631\u062A\u062E\u0627\u0621\u060C \u0645\u0634\u0627\u0643\u0644 \u0641\u064A \u0627\u0644\u0643\u0644\u0649\u060C \u0648\u0646\u0642\u0635 \u0641\u064A \u0627\u0644\u0623\u0646\u0632\u064A\u0645\u0627\u062A. \u064A\u0645\u0643\u0646 \u0627\u0639\u062A\u0628\u0627\u0631 \u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0644\u0648\u064A \u0633\u0628\u0628\u0627\u064B \u0644\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0641\u0627\u0646\u0643\u0648\u0646\u064A (\u0627\u0644\u0628\u064A\u0643\u0627\u0631\u0628\u0648\u0646\u0627\u062A\u060C \u0627\u0644\u062D\u0645\u0627\u0636 \u0627\u0644\u0627\u0646\u0628\u0648\u0628\u064A \u0627\u0644\u0643\u0644\u0648\u064A\u060C \u0641\u0642\u062F\u0627\u0646 \u0627\u0644\u0628\u0648\u062A\u0627\u0633\u064A\u0648\u0645\u060C \u0648\u0641\u0642\u062F\u0627\u0646 \u0627\u0644\u0635\u0648\u062F\u064A\u0648\u0645 )."@ar . . "Zesp\u00F3\u0142 Lowe\u2019a"@pl . "270.8" . "534" . . . . "\uB85C\uC6B0 \uC99D\uD6C4\uAD70(Lowe syndrome, Oculocerebrorenal syndrome, \uB85C\uC6EC\uC99D\uD6C4\uAD70, \uB85C\uC6E8\uC99D\uD6C4\uAD70, \uB85C\uC774\uC99D\uD6C4\uAD70\uC774\uB77C\uACE0\uB3C4 \uD568)\uC740 \uB0A8\uC790\uC5D0\uAC8C \uC774\uD658\uB418\uB294 \uC544\uC8FC \uB4DC\uBB38 \uC720\uC804\uC9C8\uD658\uC73C\uB85C \uC778\uCCB4\uC5D0 \uC911\uC694\uD55C \uB300\uC0AC\uC7A5\uC560\uB85C \uC778\uD574 \uC2E0\uCCB4\uC801, \uC815\uC2E0\uC801, \uC758\uD559\uC801\uC778 \uBB38\uC81C\uB4E4\uC744 \uC720\uBC1C\uD55C\uB2E4. \uC99D\uC0C1\uC73C\uB85C\uB294 \uC120\uCC9C\uC131 \uBC31\uB0B4\uC7A5, \uB179\uB0B4\uC7A5, \uACE0\uB3C4\uC758 \uC815\uC2E0 \uBC1C\uC721\uC9C0\uC5F0, \uADFC\uAE34\uC7A5 \uC800\uD558, \uAC74\uBC18\uC0AC \uC18C\uC2E4, \uACBD\uB828 \uBC1C\uC791, \uC544\uBBF8\uB178\uC0B0\uB1E8(\u5C3F), \uC694\uC138\uAD00\uC131 \uC138\uD3EC\uC0AC(apoptosis), \uACE8\uC5F0\uD654 \uB4F1\uC744\uB098\uD0C0\uB0B4\uB294 X\uC5F0\uC1C4\uC131 \uC9C8\uD658. X\uC5FC\uC0C9\uCCB4 \uC7A5\uC644 25\uC601\uC5ED\uC5D0 \uC788\uB294OCRL-1\uB85C \uBA85\uBA85\uB41C \uC6D0\uC778\uC720\uC804\uC790 \uD6C4\uBCF4\uAC00 \uD074\uB860\uD654\uB418\uACE0 \uC788\uB2E4. \uB610 \uBBF8\uD1A0\uCF58\uB4DC\uB9AC\uC544 \uB300\uC0AC\uC774\uC0C1\uC774 \uC6D0\uC778\uC77C \uAC00\uB2A5\uC131\uB3C4 \uC788\uB2E4."@ko . "309000"^^ . . . "S\u00EDndrome de Lowe"@ca . "Sindrom okuloserebrorenal (juga disebut sindrom Lowe) adalah kelainan resesif terkait-X yang langka yang ditandai dengan katarak kongenital, hipotonia, kecacatan intelektual, asidosis tubulus proksimal, aminoasiduria, dan proteinuria berat molekul rendah. Sindrom Lowe dapat dianggap sebagai penyebab sindrom Fanconi (bikarbonaturia, asidosis tubulus ginjal, hilangnya kalium dan natrium)."@in . . . . "309000"^^ . . "E72.0" . . . . . "El s\u00EDndrome de Lowe o s\u00EDndrome cerebro oculo renal (LS) es una enfermedad rara, con una muy baja prevalencia que causa alteraciones f\u00EDsicas y ps\u00EDquicas en distinto grado. Esta enfermedad fue descrita por primera vez con el Dr. Charles Lowe y sus colegas. El gen afectado es el OCRL que se encuentra en el cromosoma X reduci\u00E9ndose la actividad de la inositol polifosfato 5 fosfatasa OCRL-1. Esta anomal\u00EDa se diagnostic\u00F3, estudiando cultivos de fibroblastos de la piel de individuos afectados, los cuales, presentaban una reducci\u00F3n del 10% en los niveles de actividad de dicha enzima. Solamente los varones padecen esta enfermedad y, aunque la literatura recoge alg\u00FAn caso de S\u00EDndrome de Lowe en ni\u00F1as, son muy pocos. Las madres de los ni\u00F1os con s\u00EDndrome de Lowe suelen ser portadoras de la enfermedad, aunque tambi\u00E9n se dan mutaciones espont\u00E1neas durante el desarrollo embrionario. En la mayor\u00EDa de las mujeres portadoras (95%) se pueden observar rasgos caracter\u00EDsticos de la enfermedad, si se observa el ojo en profundidad. Estas caracter\u00EDsticas suelen ser numerosas irregularidades puntiformes, lisas y de color blanquecino en la corteza del cristalino. La penetrancia de la enfermedad es completa, con un fenotipo muy similar en todas las personas afectadas."@es . . . . "Lowe Syndrome"@en . . . . "5219308"^^ . "Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss)."@en . "\u0421\u0438\u043D\u0434\u0440\u043E\u043C \u041B\u043E\u0443 (\u0430\u043D\u0433\u043B. Lowe syndrome) \u2014 \u0440\u0435\u0434\u043A\u043E\u0435 \u0440\u0435\u0446\u0435\u0441\u0441\u0438\u0432\u043D\u043E\u0435 X-\u0441\u0446\u0435\u043F\u043B\u0435\u043D\u043D\u043E\u0435 \u0437\u0430\u0431\u043E\u043B\u0435\u0432\u0430\u043D\u0438\u0435 \u0447\u0435\u043B\u043E\u0432\u0435\u043A\u0430, \u043E\u0442\u043D\u043E\u0441\u044F\u0449\u0430\u044F\u0441\u044F \u043A \u0433\u0440\u0443\u043F\u043F\u0435 \u0446\u0438\u043B\u0438\u043E\u043F\u0430\u0442\u0438\u0439."@ru . . . . . . . . . . . . "Oculocerebrorenal syndrome"@en . . "Lowe-Syndrom"@de . . . . . . . . . "Lowe syndrome"@en . .