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Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells. When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses. A biochemical understanding of these conditions has changed how they are classified. Four conditions (types I, II, III, and IV) were historically labeled as mucolipidoses. However, type I (sialidosis) is now classified as a glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.

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rdf:type
rdfs:label
  • Mukolipidose
  • Mucolipidosis
  • Mukolipidosis
  • Mucolipidosi
  • Mucolipidosis
  • Mucolipidose
  • Муколипидоз
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  • Mukolipidosen (ML), auch Mucolipidosen geschrieben, sind eine Gruppe von vier äußerst seltenen autosomal-rezessiv vererbten lysosomalen Speicherkrankheiten. Die Mukolipidosen ähneln klinisch den Mukopolysaccharidosen, haben jedoch eine andere Ätiologie und sind zudem noch seltener als diese.
  • El término mucolipidosis hace referencia a un grupo de enfermedades metabólicas hereditarias que se caracterizan por acumulación de cantidades anormales de mucopolisacáridos y lípidos en el interior de la célula. Se presentan con escasa frecuencia, por lo que se incluyen dentro de las enfermedades raras. Están causadas por la existencia de un fallo enzimático hereditario. No debe confundirse este grupo de trastornos con la mucopolisacaridosis.
  • Mukolipidosis adalah suatu penyakit genetik yang bersifat diwariskan dimana penyakit ini diakibatkan oleh kelainan genetik pada tubuh manusia. Penyakit ini diakibatkan oleh penumpukan / GAG. Mukolipidosis ini merupakan penyakit yang berkaitan erat dengan bidang ilmu biokimia dimana penamaannya didasarkan oleh 2 penyakit lainnya yaitu dan . Penyakit ini dapat mengubah sifat luar / fenotipe seseorang dan menyebabkan gangguan fisiologis lainnya.
  • Per mucolipidosi in campo medico, si intende un gruppo di malattie del metabolismo dove avviene un accumulo di lipidi e di mucopolisaccaridi nei tessuti interstiziali. Tali malattie inoltre si distinguono per la mancata presenza di mucopolisaccaridi nelle urine.
  • Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells. When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses. A biochemical understanding of these conditions has changed how they are classified. Four conditions (types I, II, III, and IV) were historically labeled as mucolipidoses. However, type I (sialidosis) is now classified as a glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.
  • Mucolipidose se refere a um grupo de doenças metabólicas hereditárias caracterizadas pela acumulação anormal de mucopolissacarídeos e quantidades de lípidos no interior da célula. Ocorrem com pouca freqüência, com apenas algumas centenas de casos diagnosticados, por isso são consideradas doenças raras. São causadas por falha genética no ou 4 (4q21-23 que codificam enzimas dos lisossomos. Não confundir com mucopolissacaridoses nem com esfingolipidoses, doenças metabólicas similares, mas menos raras.
  • Муколипидозы (англ. ML) — собирательное название группы наследственных заболеваний, относящихся к лизосомным болезням накопления, связанных с дефицитом того или иного фермента (чаще снижением активности гидролазы). Гетерогенная группа болезней, объединяющая проявления недостаточности одного из ферментов лизосом, результатом которого является определённое сочетание накопления внутри клеток организма мукополисахаридов, гликопротеинов, олигосахаридов и гликолипидов. Изначально данная группа генных болезней, клиническая картина которых связана с нарушением нормального катаболизма различных субстратов внутри клеток, названа по аналогии с другими наследственными болезнями накопления (например, мукополисахаридозы и сфинголипидозы). Открытие биохимических процессов, дефект которых приводил к разви
sameAs
ICD
MeshID
  • D009081
Orphanet
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  • Mucolipidosis
name
  • Mucolipidosis
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  • External Image
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Wikipage page ID
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Link from a Wikipage to another Wikipage
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SNOMED CT
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  • Mucolipidosis has an autosomal recessive pattern of inheritance
synonyms
  • ML
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