{"orpha":216,"name":"Neuronal ceroid lipofuscinosis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["CLN disease","NCL","NCL disease"],"definition":"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-216/","orphanet_url":"https://www.orpha.net/en/disease/detail/216","names":{"fr":{"name":"Céroïde-lipofuscinose neuronale","synonyms":["CLN","NCL"],"definition":"La céroïde-lipofuscinose neuronale (CLN) est un groupe de maladies génétiques neurodégénératives progressives caractérisées sur le plan clinique par un déficit intellectuel, une épilepsie, et une perte de la vision avec dégénérescence rétinienne, et sur le plan histologique par l'accumulation intracellulaire d'un lipopigment autofluorescent, la lipofuscine céroïde, dans les neurones du cerveau et de la rétine."},"de":{"name":"Ceroid-Lipofuszinose, neuronale","synonyms":["CLN-Krankheit","NCL"],"definition":"Die Neuronalen Ceroidlipofuscinosen (NCLs) sind eine Gruppe vererbter progredienter degenerativer Hirnkrankheiten. Charakteristische klinische Symptome sind der Abbau geistiger und anderer Fähigkeiten, Epilepsie und Sehverlust durch Netzhautdegeneration. Histopathologisch ist in den Hirnneuronen und in der Retina eine intrazelluläre Anhäufung von autofluoreszierendem Material, dem Ceroid-Lipofuscin, nachweisbar."},"es":{"name":"Lipofuscinosis ceroidea neuronal","synonyms":["Enfermedad CLN","Enfermedad NCL","NCL"],"definition":"La lipofuscinosis neuronal ceroidea (LNCs) es un conjunto de enfermedades neurodegenerativas hereditarias que se caracteriza clínicamente por disminución de la capacidad mental, epilepsia y pérdida de visión por degeneración retiniana, e histológicamente por la acumulación intracelular de un material autofluorescente, la lipofuscina ceroidea, en las células neuronales del cerebro y de la retina."},"it":{"name":"Ceroidolipofuscinosi neuronale","synonyms":["Malattia CLN","Malattia NCL","NCL"]},"nl":{"name":"Neuronale ceroïdlipofuscinose","synonyms":["CLN-ziekte","NCL","NCL-ziekte"],"definition":"Een groep van erfelijke progressieve degeneratieve hersenaandoeningen, klinisch gekarakteriseerd door achteruitgang van mentale en andere capaciteiten, epilepsie, en verlies van gezichtsvermogen door retinadegeneratie, en histopathologisch gekenmerkt door intracellulaire accumulatie van een autofluorescerend materiaal, ceroïdlipofuscine, in zenuwcellen in de hersenen en het netvlies."},"pt":{"name":"Lipofuscinose ceróide neuronal","synonyms":["Doença CLN","Doença NCL","NCL"]},"pl":{"name":"Neuronalna lipofuscynoza ceroidowa","synonyms":["NCL","Neuronalna ceroidolipofuscynoza"]},"cs":{"name":"Neuronální ceroid lipofuscinóza","synonyms":["NCL"]},"uk":{"name":"Нейрональний цероїдний ліпофусциноз","synonyms":["Хвороба CLN","NCL","Хвороба NCL"],"definition":"Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina."},"zh":{"name":"神经元蜡样质脂褐质沉积病","synonyms":["NCL"]},"tr":{"name":"Nöronal seroid lipofusinoz","synonyms":["NCL"]}},"xrefs":[{"source":"ICD-10","code":"E75.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C56.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1568332253"},{"source":"MONDO","code":"0016295","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16295","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009472","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027877","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10739","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10074607","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":79262,"name":"OBSOLETE: Adult neuronal ceroid lipofuscinosis","status":"inactive"},{"type":"Referred to","orpha":79263,"name":"OBSOLETE: Infantile neuronal ceroid lipofuscinosis","status":"inactive"},{"type":"Referred to","orpha":79264,"name":"OBSOLETE: Juvenile neuronal ceroid lipofuscinosis","status":"inactive"},{"type":"Referred to","orpha":168486,"name":"OBSOLETE: Congenital neuronal ceroid lipofuscinosis","status":"inactive"},{"type":"Referred to","orpha":168491,"name":"OBSOLETE: Late infantile neuronal ceroid lipofuscinosis","status":"inactive"},{"type":"Referred to","orpha":228357,"name":"OBSOLETE: CLN9 disease","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":68366,"name":"Lysosomal disease","classifications":[150,156]},{"orpha":225681,"name":"Lysosomal disease with epilepsy","classifications":[156,181]},{"orpha":98543,"name":"Metabolic disease with dementia","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[{"orpha":228329,"name":"CLN1 disease","type":"Disease"},{"orpha":228337,"name":"CLN10 disease","type":"Disease"},{"orpha":314629,"name":"CLN11 disease","type":"Disease"},{"orpha":314632,"name":"CLN12 disease","type":"Disease"},{"orpha":352709,"name":"CLN13 disease","type":"Disease"},{"orpha":699708,"name":"CLN14 disease","type":"Disease"},{"orpha":228349,"name":"CLN2 disease","type":"Disease"},{"orpha":228346,"name":"CLN3 disease","type":"Disease"},{"orpha":228343,"name":"CLN4 disease","type":"Disease"},{"orpha":228360,"name":"CLN5 disease","type":"Disease"},{"orpha":228363,"name":"CLN6 disease","type":"Disease"},{"orpha":228366,"name":"CLN7 disease","type":"Disease"},{"orpha":228354,"name":"CLN8 disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Italy","status":"Validated","source":"23374165[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.98,"area":"Italy","status":"Validated","source":"23374165[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.56,"area":"Italy","status":"Validated","source":"7668318[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Norway","status":"Validated","source":"17092455[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"}],"phenotypes":null}