{"orpha":352709,"name":"CLN13 disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Kufs disease type B","NCL13","Neuronal ceroid lipofuscinosis type 13"],"definition":"A rare neuronal ceroid lipofuscinosis characterized by adulthood-onset (11-65&nbsp;years with the mean of 34&nbsp;years) epilepsy, cognitive impairment, dementia with behavioral, neuropsychiatric, and movement disturbances. Facial dyskinesia and myoclonus epilepsy are commonly observed. Unspecified motor speech problems and akinetic mutism are also reported in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352709/","orphanet_url":"https://www.orpha.net/en/disease/detail/352709","names":{"fr":{"name":"Maladie CLN13","synonyms":["Céroïde lipofuscinose neuronale de type 13","Maladie de Kufs type B","NCL13"],"definition":"Céroïde-lipofuscinose neuronale rare caractérisée par une épilepsie apparue à l'âge adulte (fourchette de 11 à 65&nbsp;ans avec un âge moyen de 34&nbsp;ans), des troubles cognitifs, une démence et des troubles comportementaux, neuropsychiatriques et des mouvements anormaux. Une dyskinésie faciale et une épilepsie myoclonique sont fréquemment observées. Des troubles moteurs de la parole non spécifiques et un mutisme akinétique sont également décrits chez certains patients."},"de":{"name":"CLN13-Krankheit","synonyms":["Ceroid-Lipofuszinose, neuronale, Typ 13","Kufs-Krankheit Typ B","NCL13"],"definition":"Eine seltene neuronale Ceroid-Lipofuszinose, die durch Epilepsie im Erwachsenenalter (11-65 Jahre mit einem Durchschnittsalter von 34 Jahren), kognitive Beeinträchtigung, Demenz mit Verhaltensstörungen, neuropsychiatrischen Störungen und Bewegungsstörungen gekennzeichnet ist. Gesichtsdyskinesien und Myoklonus-Epilepsie werden häufig beobachtet. Bei einigen Patienten werden auch nicht näher bezeichnete motorische Sprachstörungen und akinetischer Mutismus berichtet."},"es":{"name":"Enfermedad CLN13","synonyms":["Lipofuscinosis ceroidea neuronal tipo 13","NCL13","Enfermedad de Kufs tipo B"],"definition":"Es una lipofuscinosis ceroidea neuronal poco frecuente caracterizada por epilepsia de inicio en la edad adulta (11-65 años; media de edad de 34 años), afectación cognitiva y demencia con trastornos de la conducta, neuropsiquiátricos y del movimiento. La discinesia facial y la epilepsia mioclónica son frecuentes. En algunos pacientes también se han descrito trastornos motores del habla no especificados y mutismo acinético."},"it":{"name":"Malattia CLN13","synonyms":["Ceroidolipofuscinosi neuronale tipo 12","Ceroidolipofuscinosi neuronale tipo 13","Malattia di Kufs tipo B"]},"nl":{"name":"CLN13-ziekte","synonyms":["NCL13","Neuronale ceroïdlipofuscinose type 13","Ziekte van Kufs type B"],"definition":"Een zeldzame neuronale ceroïdlipofuscinose, gekenmerkt door aanvang in de volwassenheid (11-65 jaar met een gemiddelde van 34 jaar) van epilepsie, cognitieve functiestoornis, dementie met gedrags- en bewegingsstoornissen en neuropsychiatrische stoornissen. Faciale dyskinesie en myoclonusepilepsie worden vaak waargenomen. Niet-gespecificeerde motorische spraakproblemen en akinetisch mutisme werden ook gerapporteerd bij sommige patiënten."},"pt":{"name":"Doença CLN13","synonyms":["Doença Kufs tipo B","Lipofuscinose ceroide neuronal tipo 13","NCL13"]},"pl":{"name":"Choroba CLN13","synonyms":["Choroba CLN13"],"definition":"Rzadka postać ceroidolipofuscynozy neuronalnej, ujawniająca się w wieku dorosłym (11–65 lat, średnio w 34 rż), charakteryzująca się padaczką, zaburzeniami funkcji poznawczych, otępieniem oraz zaburzeniami zachowania, neuropsychiatrycznymi i ruchowymi. Często obserwuje się dyskinezję twarzy oraz padaczkę miokloniczną. U niektórych pacjentów opisano niespecyficzne zaburzenia mowy ruchowej oraz mutyzm akinetyczny."},"cs":{"name":"Onemocnění CLN13","synonyms":["Kufs disease type B","NCL13","Neuronal ceroid lipofuscinosis type 13"]},"uk":{"name":"Хвороба CLN13","synonyms":["Хвороба Куфса типу В","Нейрональний цероїдний ліпофусциноз типу 13"]},"zh":{"name":"CLN13病"},"tr":{"name":"CLN13 hastalığı"}},"xrefs":[{"source":"OMIM","code":"615362","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":"0014147","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14147","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3715049","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":"CTSF","name":"cathepsin F","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21990111[PMID]_22778232[PMID]","hgnc":"2531","ensembl":"ENSG00000174080","omim":"603539","loci":["11q13.2"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"23297359[PMID]_25274848[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"23297359[PMID]_25274848[PMID]_ORPHANET"}],"phenotypes":null}