{"orpha":165,"name":"Neutral lipid storage disease","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Lipidosis with triglyceride storage disease"],"definition":"Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-165/","orphanet_url":"https://www.orpha.net/en/disease/detail/165","names":{"fr":{"name":"Lipidose avec surcharge en triglycérides","definition":"Le terme de lipidose avec surcharge en triglycérides ou 'Neutral Lipid Storage Disease' (NLSD) recouvre un groupe de maladies caractérisées par un déficit de la dégradation des triglycérides cytoplasmiques et par leur accumulation dans des vacuoles lipidiques cytoplasmiques dans la plupart des tissus de l'organisme. Ce groupe est hétérogène ; on distingue actuellement la NLSD avec ichthyose (NLSDI/maladie de Dorfman-Chanarin) et la NLSD avec myopathie (NLSDM ou myopathie à surcharge lipidique multisystémique)."},"de":{"name":"Neutralfett-Speicherkrankheit","synonyms":["Lipidose mit Triglyzerid-Speicherkrankheit"],"definition":"Die Neutralfett-Speicherkrankheit (NLSD) umfasst eine Gruppe von Krankheiten mit defektem Abbau der Triglyzeride im Zytoplasma und deren Speicherung in zytoplasmatischen Lipid-Vakuolen in den meisten Geweben des Körpers. Es handelt sich um eine heterogene Gruppe: Bisher werden Fälle von NLSD mit Ichthyose (NLSDI/Dorfman-Chanarin-Krankheit; s. dort) und NLSD mit Myopathie (NLSDM/Neutrallipid-Speicherung mit Myopathie; s. dort) unterschieden."},"es":{"name":"Enfermedad por depósito de lípidos neutros","definition":"El término de enfermedad por depósito de lípidos neutros (NLSD; del inglés: Neutral Lipid Storage Disease), se refiere a un grupo de enfermedades caracterizado por un déficit en la degradación de los triglicéridos citoplasmáticos y su acumulación en las vacuolas lipídicas citplasmáticas en la mayoría de los tejidos del organismo. El grupo es heterogéneo, actualmente puede distinguirse la NLSD con ictiosis (NLSDI/enfermedad de Dorfman-Chanarin; ver este término) y la NLSD con miopatía (NLSDM/miopatía por almacenamiento de lípidos neutros)."},"it":{"name":"Lipidosi con sovraccarico di trigliceridi"},"nl":{"name":"Neutrale vetstapelingsziekte","synonyms":["Lipidose met triglyceridenstapelingsziekte"],"definition":"Neutrale vetstapelingsziekte (NLSD) verwijst naar een groep van aandoeningen, gekenmerkt door verstoorde degradatie van cytoplasmatische triglyceriden en hun accumulatie in cytoplasmatische vetvacuolen in de meeste weefsels van het lichaam. De groep is heterogeen: momenteel kunnen gevallen van NLSD met ichthyosis (NLSDI/ziekte van Dorfman-Chanarin) en NLSD met myopathie (NLSDM/neutrale vetstapelingsmyopathie) onderscheiden worden."},"pt":{"name":"Doença de armazenamento de lípidos neutros","synonyms":["Doença de Chanarin","Lipidose com doença de armazenamento de triglicerídeos","Miopatia por acumulação de lípidos neutros"]},"pl":{"name":"Choroba spichrzania lipidów neutralnych","synonyms":["Lipidoza z chorobą spichrzania triglicerydów"]},"cs":{"name":"Střádání neutrálních lipidů","synonyms":["Lipidóza se střádáním triglyceridů"]},"uk":{"name":"Хвороба накопичення нейтральних ліпідів","synonyms":["Ліпідоз з хворобою накопичення тригліцеридів"],"definition":"Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished."},"zh":{"name":"中性脂质贮积病","synonyms":["脂肪沉积伴甘油三酯贮积病"]},"tr":{"name":"Nötr lipid depo hastalığı","synonyms":["Trigliserid depo hastalığı ile seyreden lipidoz"]}},"xrefs":[{"source":"ICD-11","code":"5C52.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"621440298"},{"source":"MONDO","code":"0015611","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15611","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848057","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3262","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":352312,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement","classifications":[150,156]},{"orpha":206953,"name":"Muscular lipidosis","classifications":[156,181]}],"children":[{"orpha":98907,"name":"Neutral lipid storage disease with ichthyosis","type":"Disease"},{"orpha":98908,"name":"Neutral lipid storage disease with myopathy","type":"Disease"},{"orpha":692305,"name":"Triglyceride deposit cardiomyovasculopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}