{"orpha":438134,"name":"PCNA-related progressive neurodegenerative photosensitivity syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect during embryogenesis caused by homozygous mutations in the <i>PCNA</i> gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-438134/","orphanet_url":"https://www.orpha.net/en/disease/detail/438134","names":{"fr":{"name":"Syndrome neurodégénératif progressif avec photosensibilité associé à PCNA","definition":"Maladie neurodégénérative rare causée par des mutations homozygotes du gène <i>PCNA</i> caractérisée par une neurodégénérescence, un retard de croissance post-natal, une surdité neurosensorielle prélinguale, un vieillissement prématuré, des télangiectasies oculaires et cutanées, des difficultés d'apprentissage, une photophobie et une photosensibilité avec prédisposition aux tumeurs malignes induites par le soleil. La détérioration neurologique progressive entraîne des troubles de la marche, une faiblesse musculaire, des difficultés d'élocution et de déglutition, ainsi qu'un déclin cognitif progressif."},"de":{"name":"PCNA-assoziiertes progressives neurodegeneratives photosensitives-Syndrom"},"es":{"name":"Síndrome de neurodegeneración progresiva con fotosensibilidad asociado a PCNA","definition":"Es una enfermedad neurodegenerativa poco frecuente causada por mutaciones homocigotas en el gen PCNA y caracterizada por neurodegeneración, retraso del crecimiento postnatal, hipoacusia neurosensorial prelocutiva, envejecimiento prematuro, telangiectasia oculocutánea, dificultades de aprendizaje, fotofobia y fotosensibilidad con predisposición a neoplasias inducidas por la luz solar. El deterioro neurológico progresivo conduce a trastornos de la marcha, debilidad muscular, dificultades en el habla y la deglución, así como deterioro cognitivo progresivo."},"it":{"name":"Sindrome neurodegenerativa progressiva con fotosensibilità correlata a PCNA","definition":"La sindrome neurodegenerativa progressiva con fotosensibilità correlata a PCNA è una malattia neurodegenerativa rara, causata da mutazioni omozigoti nel gene PCNA, caratterizzata da degenerazione neurologica, ritardo della crescita postnatale, sordità neurosensoriale ad esordio prelinguale, invecchiamento precoce, telangectasia oculare e cutanea, difficoltà di apprendimento, fotofobia e fotosensibilità associate alla predisposizione ai tumori maligni indotti dall'esposizione ai raggi solari. Il deterioramento neurologico progressivo esita in alterazioni della deambulazione, debolezza muscolare, difficoltà del linguaggio e della deglutizione e progressivo declino cognitivo."},"nl":{"name":"PCNA-gerelateerde progressieve neurodegeneratieve fotosensitiviteit-syndroom","definition":"PCNA-gerelateerde progressieve neurodegeneratieve fotosensitiviteit-syndroom is een zeldzame neurodegeneratieve ziekte die veroorzaakt wordt door homozygote mutaties in het gen <i>PCNA</i>, en die gekarakteriseerd wordt door neurodegeneratie, postnatale groeiretardatie, prelinguaal sensorineuraal gehoorverlies, premature veroudering, oculaire en cutane teleangiëctasie, leermoeilijkheden, fotofobie, en lichtgevoeligheid met bewijs van predispositie voor maligniteiten geïnduceerd door de zon. Progressieve neurologische aftakeling leidt tot to gangstoornissen, spierzwakte, moeilijkheden met spreken en slikken, en progressieve cognitieve achteruitgang."},"pt":{"name":"Síndrome de fotossenssibilidade neurodegenerativa progressiva PCNA-relacionada"},"pl":{"name":"Zespół postępującej neurozwyrodnieniowej wrażliwości na światło zależnej od PCNA","definition":"*Zespół postępującej neurozwyrodnieniowej nadwrażliwości na światło zależnej od PCNA jest rzadką chorobą neurodegeneracyjną, związaną z obecnością homozygotycznych mutacji w genie PCNA.Charakteryzuje się neurodegeneracją, opóźnieniem wzrastania po urodzeniu, niedosłuchem zmysłowo-nerwowym, rozwijającym się przed nabyciem umiejętności językowych, przedwczesnym starzeniem się, teleangiektazjami ocznymi i skórnymi, trudnościami w nauce, światłowstrętem i nadwrażliwością na światło z predyspozycją do nowotworów złośliwych indukowanych ekspozycją na słońce. Postępujące pogorszenie stanu neurologicznego prowadzi do zaburzeń chodu, osłabienia mięśni, trudności w mówieniu i połykaniu oraz postępującego pogorszenia funkcji poznawczych."},"cs":{"name":"Syndrom PCNA-vázané progresivní neurodegenerativní fotosensitivity"},"uk":{"name":"Прогресуючий нейродегенеративний синдром фоточутливості, повязаний з PCNA","definition":"A rare developmental defect during embyogenesis caused by homozygous mutations in the <i>PCNA</i> gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline."},"zh":{"name":"PCNA相关性进行性神经退行性光敏综合征","definition":"PCNA相关的进行性神经退行性光敏综合症是由 PCNA 基因的纯合突变引起的罕见神经退行性疾病，其特征是神经退行性变，出生后发育迟缓，语前感觉神经性听力减退，过早衰老，眼和皮肤毛细血管扩张，学习困难，畏光和光敏性，易患由太阳诱发的恶性肿瘤。进行性神经系统恶化导致步态障碍，肌肉无力，言语和吞咽困难以及进行性认知下降。"},"tr":{"name":"PCNA-ilişkili ilerleyici nörodejeneratif fotosensitivite sendromu"}},"xrefs":[{"source":"OMIM","code":"615919","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014399","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4014676","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PCNA","name":"proliferating cell nuclear antigen","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24911150[PMID]","hgnc":"8729","ensembl":"ENSG00000132646","omim":"176740","loci":["20p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24911150[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24911150[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-05","source":"24911150[PMID]_26255937[PMID]","terms":[{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002180","label":"Neurodegeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031087","label":"Absent pubertal growth spurt","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007763","label":"Retinal telangiectasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null}]}}