{"orpha":228337,"name":"CLN10 disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NCL10","Neuronal ceroid lipofuscinosis type 10"],"definition":"A rare neuronal ceroid lipofuscinosis characterized by motor, cognitive and developmental regression with speech impairment, ataxia, limb weakness, visual impairment (notably retinitis pigmentosa), dysarthria and prosopagnosia. It may present with congenital (the most commonly observed form of the disease), late infantile (3 years) and juvenile-onset (4-8 years), and later stages into adulthood. Congenital form is associated with immediate postnatal onset of epileptic seizures, respiratory failure and limb hypertonia. Neonates have microcephaly with severe atrophy of the cerebrum and cerebellum with myelin deficiency, and retinal dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228337/","orphanet_url":"https://www.orpha.net/en/disease/detail/228337","names":{"fr":{"name":"Maladie CLN10","synonyms":["Céroïde lipofuscinose neuronale de type 10","NCL10"],"definition":"Céroïde-lipofuscinose neuronale rare caractérisée par une régression motrice, cognitive et développementale accompagnée de troubles de la parole, d'ataxie, de faiblesse des membres, de troubles visuels (notamment rétinite pigmentaire), de dysarthrie et de prosopagnosie. Elle peut se présenter sous une forme congénitale (la forme la plus couramment observée), infantile tardive (à l'âge de 3&nbsp;ans) et juvénile (entre l'âge de 4 et 8&nbsp;ans), et à des stades plus tardifs jusqu'à l'âge adulte. La forme congénitale est associée à l'apparition immédiatement après la naissance de crises d'épilepsie, d'une insuffisance respiratoire et d'une hypertonie des membres. Les nouveau-nés présentent une microcéphalie, une atrophie sévère du cerveau et du cervelet, ainsi qu'une atteinte de la myéline et de la rétine."},"de":{"name":"CLN10-Krankheit","synonyms":["Ceroid-Lipofuszinose, neuronale, Typ 10","NCL10"]},"es":{"name":"Enfermedad CLN10","synonyms":["Lipofuscinosis ceroidea neuronal tipo 10","NCL10"],"definition":"Es una lipofuscinosis ceroidea neuronal poco frecuente, caracterizada por regresión motora, cognitiva y del desarrollo, con afectación del habla, ataxia, debilidad de las extremidades, discapacidad visual (en particular, retinosis pigmentaria), disartria y prosopagnosia. Puede ser congénita (la forma más frecuente) o de inicio infantil tardío (3 años) y juvenil (4-8 años), así como en etapas posteriores, hasta la edad adulta. La forma congénita se asocia con la manifestación posnatal inmediata de crisis epilépticas, insuficiencia respiratoria e hipertonía de las extremidades. Los neonatos presentan microcefalia con atrofia cerebral y cerebelar grave, con deficiencia de mielina y disfunción retiniana."},"it":{"name":"Malattia CLN10","synonyms":["CNCL","Ceroidolipofuscinosi neuronale tipo 10"]},"nl":{"name":"CLN10-ziekte","synonyms":["NCL10","Neuronale ceroïdlipofuscinose type 10"],"definition":"Een zeldzame neuronale ceroïdlipofuscinose, gekenmerkt door motorische, cognitieve en ontwikkelingsregressie met spraakstoornis, ataxie, zwakte van ledematen, verlies van gezichtsvermogen (vooral retinitis pigmentosa), dysartrie, en prosopagnosie. Het kan zich presenteren met congenitale (de meest waargenomen vorm van de ziekte), laat infantiele (3 jaar) en juveniele (4-8 jaar) aanvang, en latere stadia tot in de volwassenheid. De congenitale vorm is geassocieerd met onmiddellijke postnatale aanvang van epileptische aanvallen, respiratoir falen en hypertonie van ledematen. Neonaten hebben microcefalie met ernstige atrofie van cerebrum en cerebellum met myelinedeficiëntie, en disfunctie van retina."},"pt":{"name":"Doença CLN10","synonyms":["Lipofuscinose ceroide neuronal tipo 10","NCL10"]},"pl":{"name":"Choroba CLN10","synonyms":["Niedobór katepsyny D"],"definition":"Rzadka postać ceroidolipofuscynozy neuronalnej, charakteryzująca się regresją funkcji ruchowych, poznawczych i rozwojowych, z zaburzeniami mowy, ataksją, osłabieniem siły kończyn, zaburzeniami widzenia (szczególnie w postaci barwnikowego zwyrodnienia siatkówki), dyzartrią oraz prozopagnozją (niezdolność do rozpoznawania twarzy). Choroba może przyjmować postać wrodzoną (najczęstsza), późnoniemowlęcą (około 3 roku życia), młodzieńczą (4–8 lat), objawy mogą wystąpić także w wieku dorosłym. W postaci wrodzonej krótko po urodzeniu występują napady padaczkowe, niewydolność oddechowa oraz wzmożone napięcie mięśni kończyn. U noworodków stwierdza się małogłowie z ciężkim zanikiem mózgu i móżdżku, z niedoborem mieliny, a także zaburzenia funkcji siatkówki."},"cs":{"name":"Neuronální ceroidlipofuscinosa, typ 10","synonyms":["Deficit katepsinu D","Onemocnění CLN10"]},"uk":{"name":"Хвороба CLN10","synonyms":["CNCL","Нейрональний цероїдний ліпофусциноз типу 10"]},"zh":{"name":"神经元蜡样脂褐质沉积症10型","synonyms":["组织蛋白酶缺乏症"]},"tr":{"name":"CLN10 hastalığı","synonyms":["Katepsin D eksikliği"]}},"xrefs":[{"source":"OMIM","code":"610127","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":"index","validated":true,"icd11_uri":"1956939722"},{"source":"MONDO","code":"12414","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5888338","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]}],"children":[{"orpha":700487,"name":"Congenital CLN10 disease","type":"Clinical subtype"},{"orpha":700497,"name":"Juvenile CLN10 disease","type":"Clinical subtype"},{"orpha":700492,"name":"Late infantile CLN10 disease","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CTSD","name":"cathepsin D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32412666[PMID]_34733232[PMID]_34684815[PMID]","hgnc":"2529","ensembl":"ENSG00000117984","omim":"116840","loci":["11p15.5"],"via":{"orpha":700487,"name":"Congenital CLN10 disease"}},{"symbol":"CTSD","name":"cathepsin D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32412666[PMID]_34733232[PMID]_34684815[PMID]","hgnc":"2529","ensembl":"ENSG00000117984","omim":"116840","loci":["11p15.5"],"via":{"orpha":700492,"name":"Late infantile CLN10 disease"}},{"symbol":"CTSD","name":"cathepsin D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32412666[PMID]_34733232[PMID]_34684815[PMID]","hgnc":"2529","ensembl":"ENSG00000117984","omim":"116840","loci":["11p15.5"],"via":{"orpha":700497,"name":"Juvenile CLN10 disease"}}],"inheritance":["Autosomal recessive"],"onset":["Adult","Antenatal","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"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}