About: Niemann–Pick disease, type C

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Niemann–Pick type C (NPC) (colloquially, "Childhood Alzheimer's") is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick type C affects an estimated 1:150,000 people. Approximately 50% of cases present before 10 years of age, but manifestations may first be recognized as late as the sixth decade.

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rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:WikicatLipidStorageDisorders yago:WikicatMetabolicDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:MetabolicDisorder114084502 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisorders disease yago:State100024720
rdfs:label	داء نيمان-بيك، النمط ج (ar) Maladie de Niemann-Pick type C (fr) Niemann–Pick disease, type C (en) Ziekte van Niemann-Pick type C (nl) Болезнь Ниманна — Пика, тип C (ru) C型尼曼匹克氏症 (zh)
rdfs:comment	داء نيمان – بيك النمط ج واختصارًا (NPC)، هو أحد أمراض الاختزان في الجسيمات الحالة مرتبط بطفرة في الجينات NPC1 وNPC2. يصيب داء نيمان – بيك واحدًا من كل 150 ألف شخص تقريبًا. ويتجلى المرض عند 50% من الصابين تقريبًا قبل سن 10 سنوات، لكن لا يمكن التعرف على مظاهر المرض إلا في وقت متأخر في العقد السادس. (ar) Cet article traite du type C de la maladie de Niemann-Pick qui n'a aucun rapport avec la maladie de Niemann-Pick de type A et B. La maladie de Niemann-Pick type C est une maladie lysosomale par accumulation de cholestérol non estérifié. Cette pathologie se manifeste soit dans l'enfance, dans l'adolescence ou à l'âge adulte. (fr) Niemann–Pick type C (NPC) (colloquially, "Childhood Alzheimer's") is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick type C affects an estimated 1:150,000 people. Approximately 50% of cases present before 10 years of age, but manifestations may first be recognized as late as the sixth decade. (en) De ziekte van Niemann-Pick type C is een lysosomale stapelingsziekte die gerelateerd is aan mutaties in de genen NPC1 en NPC2. Niemann-Pick type C komt voor bij naar schatting 1 op de 120.000 mensen. In ongeveer 50% van de gevallen manifesteert de ziekte zich voor de leeftijd van 10 jaar, maar verschijnselen kunnen ook pas voor het eerst op de leeftijd van 50–60 jaar worden opgemerkt. (nl) Болезнь Ниманна — Пика, тип C — одна из трёх форм болезни Ниманна — Пика, вызываемая мутациями генов и . Около 95 % случаев приходятся на мутации NPC1 (подтип C1), около 5 % — на мутации NPC2 (подтип C2). Клинические проявления заболевания схожи, потому что продукты обоих генов участвуют в выводе липидов, в частности, холестерина, из эндосом и лизосом. (ru) C型尼曼匹克氏症（Niemann–Pick disease, type C、NPC）是一種具有遺傳性和不可逆性的慢性惡化性腦脊髓交感神經疾病，然而可以被治療。C型尼曼匹克氏症的最低發生率大約為1:100,000至1:120,000，發病年齡差異甚大，約有50％的病例在10歲之前出現，但是亦可能在60歲後才出現。大部分患者的疾病特徵為具有漸進性及致殘性的神經症狀，以及提早死亡。目前已知C型尼曼匹克氏症與和NPC2基因的突變有關。 (zh)
foaf:name	Niemann–Pick disease, type C (en)
name	Niemann–Pick disease, type C (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Rare diseases Lipid storage disorders
Wikipage page ID	20058343 (xsd:integer)
Wikipage revision ID	1106014479 (xsd:integer)
Link from a Wikipage to another Wikipage	Calcium Cataplexy dbr:Pregnane_X_receptor Psychosis Ptosis (eyelid) Epilepsy NPC1 NPC2 National Center for Advancing Translational Sciences Nervous system Plasma membrane Membrane protein Priority review Bilirubin Bipolar disorder Dementia Anti-inflammatory Hormones Restless legs syndrome Cyclodextrin United States Dysarthria Dysphagia Infantile Corpus callosum Mayo Clinic Medford, Oregon Gastroenterology Gene therapy Nutrition England Enzyme French Canadian Glycolipids Molecules Multiple sclerosis Thomas Jefferson University Autosomal recessive disorders Lewy body dementia Lipids Lysosomes Major depressive disorder Stem cell Steroid Clinical trial Pulmonology Adeno-associated virus Cell (biology) Tremor Heat shock Acetylleucine Allopregnanolone Alzheimer's Amyotrophic lateral sclerosis Curcumin Dystonia Eunice Kennedy Shriver National Institute of Child Health and Human Development European Medicines Agency Filipin Food and Drug Administration Niemann–Pick disease, SMPD1-associated

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