{"orpha":228366,"name":"CLN7 disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NCL7","Neuronal ceroid lipofuscinosis type 7"],"definition":"A rare neuronal ceroid lipofuscinosis characterized by epilepsy with myoclonic, atonic, and bilateral tonic-clonic seizures, gait disturbance, and language difficulty/delay. Progressive motor and cognitive decline, personality disorders, myoclonus and visual loss are common clinical features become evident later in the disease progress. Age of onset is typically late-infantile, however few juvenile-onset patients are reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228366/","orphanet_url":"https://www.orpha.net/en/disease/detail/228366","names":{"fr":{"name":"Maladie CLN7","synonyms":["Céroïde lipofuscinose neuronale de type 7","NCL7"],"definition":"Céroïde-lipofuscinose neuronale rare caractérisée par une épilepsie accompagnée de crises myocloniques, atoniques et tonico-cloniques bilatérales, des mouvements de marche anormaux et des troubles/retards de langage. Un déclin moteur et cognitif progressif, des troubles de la personnalité, une myoclonie et une perte de vision sont des signes cliniques courants qui deviennent évidentes plus tard dans l'évolution de la maladie. L'âge d'apparition est typiquement celui de la forme infantile tardive, mais quelques cas d'apparition juvénile ont été rapportés."},"de":{"name":"CLN7-Krankheit","synonyms":["Ceroid-Lipofuszinose, neuronale, Typ 7","NCL7","Türkische Variante der spätinfantilen NCL","vLINCL"],"definition":"Eine seltene neuronale Ceroidlipofuszinose, die durch Epilepsie mit myoklonischen, atonischen und bilateralen tonisch-klonischen Anfällen, Gangstörungen und Sprachschwierigkeiten/-verzögerungen gekennzeichnet ist. Fortschreitender motorischer und kognitiver Verfall, Persönlichkeitsstörungen, Myoklonus und Sehstörungen sind häufige klinische Merkmale, die erst später im Krankheitsverlauf auftreten. Das Erkrankungsalter liegt typischerweise im späten Kleinkindalter, es wird jedoch auch über wenige Patienten mit juvenilem Auftreten berichtet."},"es":{"name":"Enfermedad CLN7","synonyms":["Lipofuscinosis ceroidea neuronal tipo 7","NCL7"],"definition":"Es una lipofuscinosis ceroidea neuronal poco frecuente caracterizada por epilepsia con crisis mioclónicas, atónicas y tónico-clónicas bilaterales, alteración de la marcha y dificultad o retraso en el lenguaje. El deterioro motor y cognitivo progresivo, los trastornos de la personalidad, las mioclonías y la pérdida visual son características clínicas comunes que se manifiestan posteriormente durante el curso de la enfermedad. La edad de inicio suele ser en la infancia tardía; sin embargo, se han descrito algunos casos de inicio juvenil."},"it":{"name":"Malattia CLN7","synonyms":["Variante turca tardiva infantile","Ceroidolipofuscinosi infantile tardiva, variante turca","Ceroidolipofuscinosi neuronale tipo 7","vLINCL"]},"nl":{"name":"CLN7-ziekte","synonyms":["NCL7","Neuronale ceroïdlipofuscinose type 7"],"definition":"Een zeldzame neuronale ceroïdlipofuscinose, gekenmerkt door epilepsie met myoclonische, atonische, en bilaterale tonisch-clonische insulten, gangstoornis, en taalproblemen/-achterstand. Progressieve motorische en cognitieve achteruitgang, persoonlijkheidsstoornissen, myoclonus en verlies van gezichtsvermogen zijn gangbare klinische kenmerken die later in het verloop van de ziekte merkbaar worden. De aanvangsleeftijd is doorgaans laat infantiel, maar er werden ook enkele patiënten met juveniele aanvang gerapporteerd."},"pt":{"name":"Doença CLN7","synonyms":["Lipofuscinose ceroide neuronal tipo 7","NCL7"]},"pl":{"name":"Choroba CLN7","synonyms":["Choroba CLN7"],"definition":"Rzadka postać ceroidolipofuscynozy neuronalnej, charakteryzująca się padaczką z napadami mioklonicznymi, atonicznymi oraz obustronnymi toniczno-klonicznymi, zaburzeniami chodu oraz opóźnieniem rozwoju mowy. Częste objawy, które pojawiają się w późniejszym przebiegu choroby, to regres ruchowy i poznawczy, zaburzenia osobowości, mioklonie oraz utrata wzroku. Choroba ujawnia się zwykle w późnym okresie niemowlęcym, choć opisano również nieliczne przypadki z początkiem objawów w okresie młodzieńczym."},"cs":{"name":"Neuronální ceroidlipofuscinosa, typ 7","synonyms":["Onemocnění CLN7"]},"uk":{"name":"Хвороба CLN7","synonyms":["Нейрональний цероїдний ліпофусциноз типу 7","Турецький варіант пізнього інфантилізму","vLINCL"]},"zh":{"name":"神经元蜡样脂褐质沉积症7型"},"tr":{"name":"CLN7 hastalığı"}},"xrefs":[{"source":"OMIM","code":"610951","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"12588","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838571","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":216,"name":"Neuronal ceroid lipofuscinosis","classifications":[150,156,181,189]},{"orpha":98261,"name":"Progressive myoclonic epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MFSD8","name":"major facilitator superfamily domain containing 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34733232[PMID]_27238410[PMID]","hgnc":"28486","ensembl":"ENSG00000164073","omim":"611124","loci":["4q28.2"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}