{"orpha":98908,"name":"Neutral lipid storage disease with myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adipose triglyceride lipase deficiency","NLSDM","Neutral lipid storage disease type M","Neutral lipid storage disease with myopathy without ichthyosis"],"definition":"A form of neutral lipid storage disease characterized by adult onset of slowly progressive muscular weakness of the limbs and axial muscles, and accumulation of lipid droplets in the muscles and leukocytes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98908/","orphanet_url":"https://www.orpha.net/en/disease/detail/98908","names":{"fr":{"name":"Myopathie à surcharge lipidique multisystémique","synonyms":["Maladie à surcharge lipidique avec myopathie sans ichtyose","NLSDM"],"definition":"Forme de lipidose avec surcharge en triglycérides caractérisée par l'apparition à l'âge adulte d'une faiblesse lentement progressive des muscles des membres et des muscles axiaux, et par l'accumulation de gouttelettes lipidiques dans les muscles et les leucocytes."},"de":{"name":"Neutralfett-Speicherkrankheit mit Myopathie","synonyms":["Adipose Triglycerid-Lipase-Defizienz","NLSDM","Neutralfett-Speicherkrankheit Typ M","Neutralfett-Speicherkrankheit mit Myopathie ohne Ichthyose"],"definition":"Eine Form der Neutralfett-Speicherkrankheit, die sich im Erwachsenenalter durch eine langsam fortschreitende Muskelschwäche der Gliedmaßen und der Achsenmuskulatur sowie durch eine Ansammlung von Lipidtropfen in den Muskeln und Leukozyten auszeichnet."},"es":{"name":"Enfermedad por depósito de lípidos neutros con miopatía","synonyms":["NLSDM","Deficiencia de lipasa adipocítica de triglicéridos","Deficiencia de lipasa de triglicéridos adiposos","Enfermedad de depósito de lípidos neutros con miopatía sin ictiosis","Enfermedad de depósito de lípidos neutros tipo M"],"definition":"Es una forma de enfermedad por almacenamiento de lípidos neutros que se caracteriza por el inicio en la edad adulta en forma de debilidad muscular lentamente progresiva a nivel de la musculatura axial y de las extremidades, y por el acúmulo de gotas lipídicas en los músculos y en los leucocitos."},"it":{"name":"Malattia da deposito di lipidi neutri con miopatia","synonyms":["Deficit della lipasi adipocitaria dei trigliceridi","Malattia da deposito di lipidi neutri con miopatia senza ittiosi","Malattia da deposito di lipidi neutri tipo M","NLSDM"],"definition":"Si tratta di una malattia da accumulo di lipidi neutri, che esordisce nell'età adulta con debolezza muscolare degli arti superiori e inferiori a progressione lenta, in genere prossimale, associata a livelli elevati di creatin-chinasi nel siero. Molti pazienti sviluppano una cardiomiopatia durante l'evoluzione della malattia. Altri segni clinici comprendono l'epatomegalia, il diabete mellito e l'ipertrigliceridemia. I principali criteri diagnostici sono i vacuoli lipidici contenenti trigliceridi nei leucociti sugli strisci di sangue periferico (anomalia di Jordan) e gli accumuli massivi di gocce lipidiche nel tessuto muscolare."},"nl":{"name":"Neutrale vetstapelingsziekte met myopathie","synonyms":["Deficiëntie van adipose triglyceride lipase","NLSDM","Neutrale vetstapelingsziekte met myopathie zonder ichthyosis","Neutrale vetstapelingsziekte type M"],"definition":"Een vorm van neutrale vetstapelingsziekte, gekenmerkt door volwassen aanvang van traag progressieve spierzwakte van ledematen en axiale spieren, en accumulatie van lipidedruppels in spieren en leukocyten."},"pt":{"name":"Doença de armazenamento de lípidos neutros com miopatia","synonyms":["Deficiência adiposa da lipase de triglicerídeos","Doença de armazenamento de lipidos neutros com miopatia sem ictiose","Doença de armazenamento de lipidos neutros tipo M","NLSDM"],"definition":"Forma da doença de armazenamento de lipídios neutros caracterizada pelo início na idade adulta de fraqueza muscular lentamente progressiva dos membros e músculos axiais e acúmulo de gotículas de lipídios nos músculos e leucócitos."},"pl":{"name":"Miopatia spichrzania neutralnych tłuszczy","synonyms":["Choroba spichrzania neutralnych tłuszczy z miopatią bez rybiej łuski","Kardiomiowaskulopatia z odkładaniem się trójglicerydów","NLSDM","Choroba spichrzania neutralnych lipidów z miopatią"]},"cs":{"name":"Myopatie s ukládáním neutrálních lipidů","synonyms":["NLSDM","Střádavé onemocnění neutrálních lipidů s myopatií bez ichtyózy","Kardiomyovaskulopatie s depozity triglyceridů"]},"uk":{"name":"Хвороба накопичення нейтральних ліпідів з міопатією","synonyms":["Дефіцит жирової тригліцеридної ліпази","Хвороба накопичення нейтральних ліпідів, тип М","Хвороба накопичення нейтральних ліпідів з міопатією без іхтіозу","NLSDM"],"definition":"A form of neutral lipid storage disease characterized by adult onset of slowly progressive muscular weakness of the limbs and axial muscles, and accumulation of lipid droplets in the muscles and leukocytes."},"zh":{"name":"中性脂质贮积性肌病","synonyms":["中性脂质贮积病伴肌病不伴鱼鳞病"],"definition":"该病是一种中性脂质贮积病，特征是成人出现缓慢进展的上肢和下肢近端肌肉无力，并伴有血清肌酸激酶升高，许多患者在病程后期发展为心肌病。此外还有肝肿大、糖尿病和高甘油三酯血症等表现。诊断特征是外周血涂片中白细胞中含有三酰甘油的脂质空泡(所谓的 Jordans异常)，以及肌肉组织中有大量的脂滴。"},"tr":{"name":"Nötr lipid depo miyopatisi","synonyms":["NLSDM","İktiyozsuz miyopatili nötr lipid depo hastalığı"]}},"xrefs":[{"source":"OMIM","code":"610717","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1512138529"},{"source":"MONDO","code":"0012545","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565192","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853136","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10288","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":165,"name":"Neutral lipid storage disease","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"PNPLA2","name":"patatin like domain 2, triacylglycerol lipase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17187067[PMID]","hgnc":"30802","ensembl":"ENSG00000177666","omim":"609059","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":36.0,"area":"Worldwide","status":"Validated","source":"26600210[PMID]_28499397[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26600210[PMID]_28499397[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-21","source":"17187067[PMID]_21544567[PMID]_24836204[PMID]_19038890[PMID]_19729869[PMID]","terms":[{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012240","label":"Increased intramyocellular lipid droplets","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003749","label":"Pelvic girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008167","label":"Very long chain fatty acid accumulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006280","label":"Chronic pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009055","label":"Generalized limb muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009063","label":"Progressive distal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001082","label":"Cholecystitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012683","label":"Pineal cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Excluded (0%)","criteria":null}]}}