{"orpha":228363,"name":"CLN6 disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NCL6","Neuronal ceroid lipofuscinosis type 6"],"definition":"A rare neuronal ceroid lipofuscinosis characterized by developmental and motor regression, seizures, ataxia, intellectual disability, delayed global development, speech and language, spasticity, and hypotonia. Visual impairment is not always present. It may present with late infantile (5-7 years), juvenile (4-8 years) or adult-onset (30 years). Progressive myoclonus epilepsy, with myoclonic and tonic-clonic seizures, limb weakness, dysarthria are mainly associated with the adult-onset form of the disease and these patients commonly have photosensitivity (sometimes extreme) whereas vision loss is infrequent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228363/","orphanet_url":"https://www.orpha.net/en/disease/detail/228363","names":{"fr":{"name":"Maladie CLN6","synonyms":["Céroïde lipofuscinose neuronale de type 6","NCL6"],"definition":"Céroïde lipofuscinose neuronale rare caractérisée par une régression du développement et de la motricité, des crises d'épilepsie, une ataxie, une déficience intellectuelle, un retard de développement global, de la parole et du langage, une spasticité et une hypotonie. Une déficience visuelle n'est pas toujours associée. La maladie se manifeste sous une forme infantile tardive (entre l'âge de 5 à 7&nbsp;ans), juvénile (entre l'âge de 4 à 8&nbsp;ans) ou adulte (à l'âge de 30&nbsp;ans). Une épilepsie myoclonique progressive, accompagnée de crises myocloniques et tonico-cloniques, de faiblesse des membres et de dysarthrie, est principalement associée à la forme adulte de la maladie et les patients présentent fréquemment une photosensibilité (parfois extrême) alors que la perte de la vision est peu fréquente."},"de":{"name":"CLN6-Krankheit","synonyms":["Ceroid-Lipofuszinose, neuronale, Typ 6","NCL6"],"definition":"Eine seltene neuronale Ceroid-Lipofuszinose, die durch Entwicklungs- und motorische Regression, Krampfanfälle, Ataxie, Intelligenzminderung, verzögerte globale Entwicklung, Sprach- und Sprachstörungen, Spastizität und Hypotonie gekennzeichnet ist. Eine Sehbehinderung ist nicht immer vorhanden. Sie kann im späten Kindesalter (5-7 Jahre), im Jugendalter (4-8 Jahre) oder im Erwachsenenalter (30 Jahre) auftreten. Progressive Myoklonus-Epilepsie mit myoklonischen und tonisch-klonischen Anfällen, Gliederschwäche und Dysarthrie treten hauptsächlich bei der Erwachsenenform der Krankheit auf, und diese Patienten sind häufig lichtempfindlich (manchmal extrem), während Sehstörungen selten sind."},"es":{"name":"Enfermedad CLN6","synonyms":["Lipofuscinosis ceroidea neuronal tipo 6","NCL6"],"definition":"Es una lipofuscinosis ceroidea neuronal poco frecuente caracterizada por regresión motora y del desarrollo, crisis epilépticas, ataxia, discapacidad intelectual, retraso en el desarrollo global, del habla y del lenguaje, espasticidad e hipotonía. La discapacidad visual no siempre está presente. Puede debutar en la infancia tardía (5-7 años), la juventud (4-8 años) o la edad adulta (30 años). La epilepsia mioclónica progresiva, con crisis mioclónicas y tónico-clónicas, debilidad en las extremidades y disartria, se asocia principalmente con la forma adulta de la enfermedad. Estos pacientes suelen presentar fotosensibilidad (a veces extrema), mientras que la pérdida de visión es infrecuente."},"it":{"name":"Malattia CLN6","synonyms":["Ceroidolipofuscinosi neuronale tipo 6","vLINCL"]},"nl":{"name":"CLN6-ziekte","synonyms":["NCL6","Neuronale ceroïdlipofuscinose type 6"],"definition":"Een zeldzame neuronale ceroïdlipofuscinose, gekenmerkt door ontwikkelings- en motorische regressie, insulten, ataxie, intellectuele achterstand, algehele ontwikkelingsachterstand, spraak- en taalachterstand, spasticiteit, en hypotonie. Verlies van gezichtsvermogen is niet altijd aanwezig. De ziekte kan zich presenteren met laat-infantiele (5-7 jaar), juveniele (4-8 jaar) of volwassen (30 jaar) aanvang. Progressieve myoclonusepilepsie, met myoclonische en tonisch-clonische insulten, zwakte van ledematen, en dysartrie zijn vooral geassocieerd met de in de volwassenheid optredende vorm van de ziekte, en deze patiënten lijden doorgaans aan lichtgevoeligheid (soms extreem), terwijl verlies van gezichtsvermogen niet vaak voorkomt."},"pt":{"name":"Doença CLN6"},"pl":{"name":"Choroba CLN6","synonyms":["Choroba CLN6"],"definition":"Rzadka postać ceroidolipofuscynozy neuronalnej, charakteryzująca się regresem rozwoju oraz funkcji ruchowych, napadami padaczkowymi, ataksją, niepełnosprawnością intelektualną, globalnym opóźnieniem rozwoju oraz mowy, spastycznością oraz hipotonią. Zaburzenia widzenia nie zawsze są obecne. Choroba może przyjmować postać późnoniemowlęcą (5–7 lat), młodzieńczą (4–8 lat) lub dorosłą (około 30 lat). W postaci dorosłej często występuje padaczka z napadami mioklonicznymi i toniczno-klonicznymi, osłabienie kończyn oraz dyzartria. Częsta jest nadwrażliwość na światło (czasami nasilona), natomiast rzadko dochodzi do utraty wzroku."},"cs":{"name":"Neuronální ceroidlipofuscinosa, typ 6","synonyms":["Onemocnění CLN6"]},"uk":{"name":"Хвороба CLN6","synonyms":["Нейрональний цероїдний ліпофусциноз типу 6","vLINCL"]},"zh":{"name":"神经元蜡样脂褐质沉积症6型"},"tr":{"name":"CLN6 hastalığı"}},"xrefs":[{"source":"OMIM","code":"204300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601780","qualifier":"BTNT","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":"UMLS","code":"C5680906","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":228340,"name":"OBSOLETE: CLN4A disease","status":"inactive"}],"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":[{"orpha":700477,"name":"Adult CLN6 disease","type":"Clinical subtype"},{"orpha":700472,"name":"Juvenile CLN6 disease","type":"Clinical subtype"},{"orpha":700467,"name":"Late infantile CLN6 disease","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CLN6","name":"CLN6 transmembrane ER protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32412666[PMID]_34733232[PMID]_34684815[PMID]","hgnc":"2077","ensembl":"ENSG00000128973","omim":"606725","loci":["15q23"],"via":{"orpha":700467,"name":"Late infantile CLN6 disease"}},{"symbol":"CLN6","name":"CLN6 transmembrane ER protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32412666[PMID]_34733232[PMID]_34684815[PMID]","hgnc":"2077","ensembl":"ENSG00000128973","omim":"606725","loci":["15q23"],"via":{"orpha":700472,"name":"Juvenile CLN6 disease"}},{"symbol":"CLN6","name":"CLN6 transmembrane ER protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32412666[PMID]_34733232[PMID]_34684815[PMID]","hgnc":"2077","ensembl":"ENSG00000128973","omim":"606725","loci":["15q23"],"via":{"orpha":700477,"name":"Adult CLN6 disease"}}],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":125.0,"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}