{"orpha":100996,"name":"Kjellin syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spastic paraplegia type 15","Hereditary spastic paraparesis type 15","SPG15","Spastic paraplegia-retinal degeneration syndrome"],"definition":"Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100996/","orphanet_url":"https://www.orpha.net/en/disease/detail/100996","names":{"fr":{"name":"Syndrome de Kjellin","synonyms":["Paraplégie spastique autosomique récessive type 15","SPG15","Syndrome de paraplégie spastique-dégénérescence rétinienne"],"definition":"Une forme complexe de paraplégie spastique héréditaire caractérisée par la survenue de l'enfance à l'âge adulte, d'une spasticité lentement progressive des membres inférieurs (conduisant à un trouble de la marche, à des réponses d'extension plantaire et à une diminution de la sensation des vibrations), associée à un léger déficit intellectuel, une ataxie cérébelleuse légère, une neuropathie périphérique (avec amyotrophie distale des membres supérieurs) et une dégénérescence rétinienne. L'observation d'un corps calleux fin à l'imagerie est fréquente."},"de":{"name":"Kjellin-Syndrom","synonyms":["SPG15","Spastische Paraparese, hereditäre, Typ 15","Spastische Paraplegie, autosomal-rezessive, Typ 15","Spastische Paraplegie-Netzhautdegeneration-Syndrom"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 15 ist eine komplexe Form der hereditären spastischen Paraplegie mit Beginn im Kindes- bis Erwachsenenalter. Sie ist gelennzeichnet durch eine langsam fortschreitende Spastik der unteren Gliedmaßen (die zu Gangstörungen, extensorischen Plantarreflexen und vermindertem Vibrationsempfinden führt) in Verbindung mit einer leichten Intelligenzminderung, einer leichten zerebellären Ataxie, einer peripheren Neuropathie (mit distaler Amyotrophie der oberen Gliedmaßen) und einer Netzhautdegeneration. Ein dünnes Corpus callosum ist ein häufiger Bildgebungsbefund."},"es":{"name":"Síndrome de Kjellin","synonyms":["Paraplejía espástica autosómica recesiva tipo 15","SPG15","Síndrome de paraplejía espástica-degeneración retiniana","Paraplejía espástica hereditaria tipo 15"],"definition":"La paraplejía espástica autosómica recesiva tipo 15 es una forma compleja de paraplejía espástica hereditaria caracterizada por un inicio en la infancia a la edad adulta de espasticidad lentamente progresiva de las extremidades inferiores (que resulta en alteraciones de la marcha, respuestas plantares extensoras y disminución de la sensibilidad vibratoria) asociada con discapacidad intelectual leve, ataxia cerebelosa leve, neuropatía periférica (con amiotrofia distal de miembros superiores) y degeneración retiniana. Es frecuente el hallazgo de cuerpo calloso delgado en estudios de imagen."},"it":{"name":"Sindrome di Kjellin","synonyms":["Paraparesi spastica ereditaria, tipo 15","Paraplegia spastica autosomica recessiva tipo 15","SPG15","Sindrome paraplegia spastica-degenerazione retinica"],"definition":"La paraplegia spastica autosomica recessiva tipo 15 è una forma complessa di paraplegia spastica ereditaria, caratterizzata da spasticità agli arti inferiori, a progressione lenta ed esordio variabile tra l'infanzia e l'età adulta. La spasticità esita in un'alterata deambulazione, risposte plantari in estensione e riduzione del senso della vibrazione. Si associa a lieve disabilità intellettiva e atassia cerebellare, neuropatia periferica (con amiotrofia della porzione distale degli arti superiori) e degenerazione della retina. Spesso le immagini diagnostiche evidenziano un assottigliamento del corpo calloso."},"nl":{"name":"Syndroom van Kjellin","synonyms":["Autosomaal recessieve spastische paraplegie type 15","Hereditaire spastische paraparese type 15","SPG15","Spastische paraplegie - retinadegeneratie-syndroom"],"definition":"Autosomaal recessieve spastische paraplegie type 15 is een complexe vorm van erfelijke spastische paraplegie die gekarakteriseerd wordt door aanvang in de kindertijd tot volwassenheid van traag progressieve spasticiteit van de onderste ledematen (met als gevolg gangstoornis, pathologische voetzoolreflexen en verminderde waarneming van vibratie) geassocieerd met milde intellectuele achterstand, milde cerebellaire ataxie, perifere neuropathie (met amyotrofie van distale bovenste ledematen) en retinadegeneratie. Een dun corpus callosum is een gangbare bevinding bij beeldvorming."},"pt":{"name":"Síndrome Kjellin","synonyms":["Síndrome de paraplegia espástica-degeneração retiniana","Paraparesia espástica hereditária tipo 15","SPG15","Paraparesia espástica autossómica recessiva tipo 15"]},"pl":{"name":"Zespół Kjellina","synonyms":["Dziedziczna parapareza spastyczna typu 15","Paraplegia spastyczna - zwyrodnienie rogówki","SPG15","Zespół Kjellina"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 15","synonyms":["Hereditární spastická paraparéza, typ 15","SPG15","Syndrom zahrnující spastickou paraplegii a degeneraci sítnice","Kjellinův syndrom"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 15","synonyms":["Спадковий спастичний парапарез типу 15","Синдром Кєлліна","Синдром спастичної параплегії - дегенерації сітківки","SPG15"],"definition":"Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫15型","synonyms":["痉挛性截瘫-视网膜退行性综合征"],"definition":"常染色体隐性遗传性痉挛性截瘫15型是一种复杂形式的遗传性痉挛性截瘫，其特征是从儿童期到成年期出现缓慢进行性的下肢痉挛(导致步态障碍、足底伸肌反应和振动觉降低)，并伴有轻度智力残疾、轻度小脑性共济失调、周围神经病变(伴有上肢远端肌萎缩)和视网膜变性。胼胝体变薄是常见的影像学表现。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 15","synonyms":["SPG15","Kjellin sendromu","Kalıtsal spastik paraparezi tip 15","Spastik parapleji-retinal dejenerasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"270700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1919003526"},{"source":"MONDO","code":"0010044","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536642","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849128","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9581","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100981,"name":"Autosomal recessive complex spastic paraplegia","classifications":[156,181]},{"orpha":716427,"name":"Rare disorder with progressive predominantly macular disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ZFYVE26","name":"zinc finger FYVE-type containing 26","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18394578[PMID]_19805727[PMID]","hgnc":"20761","ensembl":"ENSG00000072121","omim":"612012","loci":["14q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"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":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"16217069[PMID]_17661097[PMID]_18098276[PMID]_19805727[PMID]","terms":[{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030892","label":"Deep cerebral white matter hyperdensities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007024","label":"Pseudobulbar paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012045","label":"Retinal flecks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006986","label":"Upper limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030506","label":"Yellow/white lesions of the retina","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002145","label":"Frontotemporal dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null}]}}