| Information | |
|---|---|
| has gloss | (noun) a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood Tay-Sachs disease, Sachs disease, infantile amaurotic idiocy, Tay-Sachs |
| has gloss | eng: Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease, it presents a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four. |
| has gloss | eng: Tay-Sachs disease (also called Tray-Sachs syndrome) is a genetically heritable disease which causes problems with the metabolism of fat. Infants usually die of pneumonia before reaching four years of age. The disease is very rare in the common population, but common in Jewish families.There is no known treatment for this disease, however there is a cheap blood test that helps prevent this disease. The most common area for this disease is the scrotum. |
| lexicalization | eng: infantile amaurotic idiocy |
| lexicalization | eng: Sachs disease |
| lexicalization | eng: Tay sachs disease |
| lexicalization | eng: Tay Sachs-Disease |
| lexicalization | eng: Tay sachs |
| lexicalization | eng: Tay-sachs disease |
| lexicalization | eng: Tay-Sachs' disease |
| lexicalization | eng: Tay-sachs |
| lexicalization | eng: Taysachs |
| lexicalization | eng: Tay–Sachs disease |
| lexicalization | eng: Tay–Sachs |
| subclass of | (noun) an inherited disease controlled by a single pair of genes monogenic disease, monogenic disorder |
| subclass of | (noun) a disease caused by the presence of two recessive mutant genes on an autosome autosomal recessive disease, autosomal recessive defect |
| subclass of | (noun) a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body lipidosis |
| Meaning | |
|---|---|
| Arabic | |
| has gloss | ara: البله المميت مرض وراثي نادر تسببه موروثة متنحية في الكروموسوم 15 تؤدي إلى نقص نشاط إنزيم هيكسورامينيديز (Hexooraminidase) ذو العلاقة بتكسير الجانجليوسايد gangliosides (المهم في التواصل الخلوي) وعدم تكسيره يقود إلى تراكمه بالخلايا العصبية والاضرار بها. تطور المرض يؤدي إلى فقدان السمع، والبصر، وضعف عضلي، وضعف عقلي. |
| lexicalization | ara: البله المميت |
| Catalan | |
| has gloss | cat: La malaltia de Tay-Sachs és una de les principals malalties lisosomals, és a dir, que afecten als lisosomes. |
| lexicalization | cat: Malaltia de Tay-Sachs |
| Czech | |
| has gloss | ces: Tay-Sachsova choroba či GM2 gangliozidóza (: Tay-Sachs disease, odtud zkratka TSD) je velmi vzácná dědičná metabolická choroba s autosomálně recesivním typem dědičnosti, způsobená nedostatkem lyzozomálních hydroláz. |
| lexicalization | ces: Tay-Sachsova choroba |
| German | |
| has gloss | deu: Das Tay-Sachs-Syndrom, auch unter den Bezeichnungen Morbus Tay-Sachs und infantile amaurotische Idiotie (angeborene schwerste Intelligenzminderung mit Erblindung) bekannt, ist eine autosomal-rezessiv vererbte, mit Morbus Sandhoff zu den GM2-Gangliosidosen mit Hexosaminidasedefekt gehörende Fettstoffwechselstörung. Sie ist nach dem britischen Augenarzt Warren Tay (* 1843, † 15. Mai 1927) und dem US-amerikanischen Neurologen Bernard Sachs (* 2. Januar 1858, † 8. Februar 1944) benannt, welche die Krankheit erstmals in den Jahren 1881 bzw. 1898 dokumentierten. Die Krankheit führt zu progressiver Reduktion kognitiver Fähigkeiten, psychomotorischem Abbau, muskulärer Hypotonie, Lähmung, Spastik, Blind- und Taubheit, Krämpfen, zum kirschroten Fleck in der Makula und innerhalb weniger Jahre zum Tode. |
| lexicalization | deu: Tay-Sachs-Syndrom |
| Finnish | |
| has gloss | fin: Tay-Sachsin tauti on 15. kromosomissa olevan geenivirheen aiheuttama peittyvästi periytyvä oireisto. Kyseessä on keskushermostoa vioittava häiriö, jolle luonteenomaista on sokeus, kehitysvamma ja varhainen dementia. |
| lexicalization | fin: Tay-Sachsin tauti |
| French | |
| has gloss | fra: La maladie de Tay-Sachs, ou appelée aussi idiotie amaurotique familiale, est une maladie génétique lysosomale du groupe des lipidoses. Cest une maladie neurodégénérative secondaire due à labsence de l'enzyme hexosaminidase A, ce qui entraîne une accumulation dans le lysosome de ganglioside GM2. |
| lexicalization | fra: Maladie de Tay-Sachs |
| Hebrew | |
| has gloss | heb: מחלת טאי זקס (או: טיי זקס) היא מחלה תורשתית קטלנית, שרוב הילדים הלוקים בה מתים בשנות חייהם הראשונות בשל נזק מוחי קשה הנובע מחוסר באנזים חיוני האחראי על חילוף חומרים של שומנים. המחלה איננה ניתנת לריפוי. |
| lexicalization | heb: טאי זקס |
| lexicalization | heb: טאי-זקס |
| Hungarian | |
| has gloss | hun: A Tay–Sachs-szindróma (vagy Tay–Sachs-kór illetve -betegség) – Idiotia amaurotica familiaris infantilis, GM2-gangliosidosis a zsíranyagcsere zavarával járó autoszomális recesszív öröklődésű enzimopátia. Hexózaminidáz-A enzim hiány miatt az N-acetil-galaktózamin bontása zavart szenved, emiatt GM2 típusú gangliozid raktározódik elsősorban az idegsejtekben, de májban, vesében, bőrben is, aminek következtében az idegeket körbevevő mielinhüvely nem alakul ki megfelelően. Súlyos elmegyengeség, siketség, vakság, motoros funkciózavarok jellemzik. A halál rendszerint 2-3 éven belül bekövetkezik. Különösen gyakori – a főként Kelet-Európában élő – askenázi zsidók körében. Praenatalis diagnózis lehetséges. |
| lexicalization | hun: Tay-Sachs-szindróma |
| lexicalization | hun: Tay–Sachs-szindróma |
| Icelandic | |
| has gloss | isl: Tay Sachs veiki er víkjandi erfðagalli sem veldur skorti á ensíminu hexósaminídasa A sem aftur leiðir til uppsöfnunar á ganglíósíð fitusýruafleiðum í taugavef, einkum heila. Sjúkdómseinkennin byrja gjarnan að koma fram við um sex mánaða aldur og dregur veikin sjúklinginn oftast til dauða á innan við fjórum árum. Taugafrumur tútna út og fyllast af GM2 ganglíósíðum. Þá kemur fram vægðarlaus hrörnun andlegs og líkamlegs atgervis. Barnið verður blint, heyrnarlaust og hættir að geta kyngt, vöðvar byrja að rýrna og lömun byrjar að gera vart við sig. Sjúklingar með Tay-Sachs sjúkdóminn eru með kirsuberjarauðan blett aftast í auga þeirra. |
| lexicalization | isl: Tay Sachs-veiki |
| Italian | |
| has gloss | ita: La malattia di Tay-Sachs è una cerebrosidosi genetica ereditaria rara, dovuta ad un deficit dellenzima esosaminidasi A, che provoca laccumulo del ganglioside GM2 nel cervello. Il gene che causa la malattia si trova sul quindicesimo cromosoma (15q23). Esistono tre forme della malattia: *Forma infantile che si manifesta nei primi mesi di vita che causa nel bambino ritardo psicomotorio, ipotonia, amaurosi, e in alcuni casi megalencefalia e sussulti associati a forti rumori. Nella forma infantile della malattia è visibile una macchia rosso ciliegia nel fondo degli occhi. La morte subentra in concomitanza di decerebrazione. *Forma giovanile che insorge tra i 2 e gli 8 anni. I sintomi sono disturbi del comportamento, atassia e regressione mentale, che anche in questo caso portano a decerebrazione. *Forma dell'adulto o cronica può comparire dai 10 anni, ma la diagnosi è possibile solo in età adulta. Questa si manifesta in due forme: la prima simile alla malattia di Friedreich, attraverso atassia spinocerebellare, la seconda invece è simile alla sindrome di Wohlfart-Kugelberg-Welander con una amiotrofia spinale giovanile. |
| lexicalization | ita: Malattia di Tay-Sachs |
| Japanese | |
| has gloss | jpn: テイ=サックス病（TSDと省略され、"GM2 ガングリオシドーシス"として知られる）は、有害量のガングリオシドGM2と呼ばれる脂質が脳内の神経細胞に蓄積されて起こる致命的な遺伝性疾患。常染色体劣性パターンで遺伝する。 |
| lexicalization | jpn: テイ＝サックス病 |
| Malay (macrolanguage) | |
| has gloss | msa: Penyakit Tay-Sachs adalah sejenis penyakit genetik. Ia berlaku apabila kuantiti banyak gangliosida, sejenis terbitan asid lemak, terkumpul dalam sel saraf otak. |
| lexicalization | msa: Tay-Sachs |
| Dutch | |
| has gloss | nld: De Ziekte van Tay-Sachs (TSD) is een zeldzame erfelijk aangeboren stofwisselingsziekte. Ze valt onder de lysosomale stapelingsziekten. Tay-Sachs is autosomaal recessief overerfbaar en wordt veroorzaakt door een fout in chromosoom 15. De ziekte behoort tot een van de drie varianten van de ziekte GM2 gangliosidose . De andere twee varianten zijn: de ziekte van Sandhoff en GM2 activator deficiëntie. |
| lexicalization | nld: Ziekte van Tay Sachs |
| lexicalization | nld: ziekte van Tay-Sachs |
| Polish | |
| has gloss | pol: Choroba Taya-Sachsa (gangliozydoza GM2) – genetycznie uwarunkowana choroba z grupy chorób spichrzeniowych, polegająca na gromadzeniu się substancji tłuszczowej – gangliozydu GM2 w komórkach nerwowych mózgu. Nazwa choroby pochodzi od brytyjskiego okulisty Warrena Taya oraz amerykańskiego neurologa Bernarda Sachsa, który opisał zmiany komórkowe w tej chorobie oraz zauważył w 1887 roku częstsze występowanie choroby we wschodnioeuropejskiej populacji Żydów aszkenazyjskich. |
| lexicalization | pol: Choroba Taya-Sachsa |
| Portuguese | |
| has gloss | por: A doença Tay-Sachs possui 5 mutações, pode ser descoberta na gestação e é consequência de uma mutação recessiva, presente apenas quando se herda genes mutados tanto da mãe quanto do pai. |
| lexicalization | por: Doença de tay-sachs |
| Russian | |
| has gloss | rus: Болезнь Тея — Сакса (ранняя детская идиотия амавротическая) — редкое наследственное заболевание нервной системы. Названо в честь британского офтальмолога Уоррена Тея (, 1843—1927), и американского невролога Бернарда Сакса (, 1858—1944). |
| lexicalization | rus: Болезнь Тея-Сакса |
| Slovak | |
| has gloss | slk: Tayov-Sachsov syndróm alebo Adsonov syndróm alebo Sachsova choroba alebo gangliozidióza, skratka TSD (z angl. Tay-Sachs disease), je dedičná metabolická choroba spôsobená nedostatkom lyzozomálnych hydroláz. |
| lexicalization | slk: Tayov-Sachsov syndróm |
| Castilian | |
| has gloss | spa: La enfermedad de Tay-Sachs es una enfermedad rara que afecta al sistema nervioso central y es de carácter hereditario, autosómica y recesiva (más común en descendientes de hebreos); generalmente los recién nacidos parecen no tener síntomas, sin embargo al pasar el tiempo estos síntomas se desarrollan. |
| lexicalization | spa: Enfermedad de Tay Sachs |
| lexicalization | spa: Enfermedad de Tay-Sachs |
| Links | |
|---|---|
| similar | e/Tay-Sachs disease |
| Show unreliable ▼ | |
| similar | e/Tay-Sachs |
| similar | e/simple/Tay-Sachs disease |
| Media | |
|---|---|
| media:img | Affymetrix 5.0 microarray.jpg |
| media:img | Autorecessive.svg |
| media:img | Bernardsachs.jpg |
| media:img | Eugenics congress logo.png |
| media:img | Founder effect.png |
| media:img | Hexachr15.jpg |
| media:img | Neil Risch.jpg |
| media:img | Tay-sachs.jpg |
| media:img | Tay-sajhchs.jpg |
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