{"orpha":363400,"name":"Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Celia disease","Celia encephalopathy","Severe neurodegenerative syndrome due to BSCL2 deficiency"],"definition":"A rare neurodegenerative disease characterized by severe developmental delay (notably speech delay), progressive psychomotor and cognitive regression (associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy), and mild to severe intellectual disability. Patients present with gait ataxia, spasticity, tretraplegia or tetraparesis, loss of language, tremors as well as early-onset subtle myoclonic seizures that develops into refractory tonic-clonic seizures and other forms of epilepsy as the disease progress.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363400/","orphanet_url":"https://www.orpha.net/en/disease/detail/363400","names":{"fr":{"name":"Syndrome d'encéphalopathie progressive-neurodégénérescence sévère-lipodystrophie","synonyms":["Encéphalopathie de Celia","Maladie de Celia","Syndrome neurodégénératif sévère par déficit en BSCL2"],"definition":"Maladie neurodégénérative rare caractérisée par un retard de développement sévère (notamment un retard de parole), une régression psychomotrice et cognitive progressive (associée une lipodystrophie, une hépatomégalie, une hypertriglycéridémie et une hypertrophie musculaire de degrés variables), ainsi qu'une déficience intellectuelle légère à sévère. Les patients présentent une ataxie de la marche, une spasticité, une tétraplégie ou une tétraparésie, une perte du langage, des tremblements ainsi que des crises myocloniques subtiles à apparition précoce qui évoluent vers des crises tonico-cloniques réfractaires et vers d'autres formes d'épilepsie à mesure que la maladie progresse."},"de":{"name":"Progressive Enzephalopathie-schwere Neurodegeneration-Lipodystrophie-Syndrom","synonyms":["Celia-Enzephalopathie","Schweres neurodegeneratives Syndrom durch BSCL2-Mangel"]},"es":{"name":"Síndrome de encefalopatía progresiva-neurodegeneración grave-lipodistrofia","synonyms":["Encefalopatía de Celia","Enfermedad de Celia","Síndrome neurodegenerativo grave por deficiencia de BSCL2"],"definition":"Es una enfermedad neurodegenerativa poco frecuente caracterizada por un retraso grave del desarrollo (especialmente del habla), regresión cognitiva y psicomotora progresiva (asociada a diversos grados de lipodistrofia, hepatomegalia, hipertrigliceridemia e hipertrofia muscular) y discapacidad intelectual de leve a grave. Los pacientes presentan ataxia de la marcha, espasticidad, tetraplejía o tetraparesia, pérdida del lenguaje, temblores y crisis mioclónicas sutiles de inicio precoz que evolucionan a crisis tónico-clónicas refractarias y a otras formas de epilepsia a medida que avanza la enfermedad."},"it":{"name":"Sindrome neurodegenerativa grave con lipodistrofia","synonyms":["Sindrome neurodegenerativa grave da deficit di BSCL2"],"definition":"La sindrome neurodegenerativa grave con lipodistrofia è una malattia neurodegenerativa genetica rara, caratterizzata da regressione psicomotoria e cognitiva progressiva (che si manifesta con andatura atassica, spasticità, perdita del linguaggio, disabilità intellettiva lieve-grave, segni piramidali ed extrapiramidali e, spesso, tetraplegia o tetraparesi), associati a lipodistrofia di grado variabile, epatomegalia, ipertrigliceridemia ed ipertrofia muscolare. I pazienti possono presentare anche iperattività, tremori e crisi epilettiche."},"nl":{"name":"Progressieve encefalopathie - ernstige neurodegeneratie - lipodystrofie-syndroom","synonyms":["Celia-encefalopathie","Ernstig neurodegeneratief syndroom door BSCL2-deficiëntie","Ziekte van Celia"],"definition":"Een zeldzame neurodegeneratieve ziekte, gekenmerkt door ernstige ontwikkelingsachterstand (in het bijzonder spraakachterstand), progressieve psychomotorische en cognitieve regressie (geassocieerd met variabele gradaties van lipodystrofie, hepatomegalie, hypertriglyceridemie en spierhypertrofie), en milde tot ernstige intellectuele achterstand. Patiënten presenteren zich met gangataxie, spasticiteit, tetraplegie of tetraparese, taalstoornis, tremor alsook vroeg optredende subtiele myoclonische insulten die ontwikkelen tot refractaire tonisch-clonische insulten en andere vormen van epilepsie naarmate de ziekte vordert."},"pt":{"name":"Síndrome de encefalopatia progressiva-neurodegeneração grave-lipodistrofia","synonyms":["Doença Celia","Encefalopatia Celia","Síndrome neurodegenerativo grave devido a deficiência BSCL2"]},"pl":{"name":"Ciężki zespół neurodegeneracyjny z lipodystrofią","synonyms":["Ciężki zespół neurodegeneracyjny z niedoborem BSCL2"]},"cs":{"name":"Těžký neurodegenerativní syndrom s lipodystrofií","synonyms":["Těžký neurodegenerativní syndrom způsobený deficitem BSCL2"]},"uk":{"name":"Тяжкий нейродегенеративний синдром з ліподистрофією","synonyms":["Тяжкий нейродегенеративний синдром внаслідок дефіциту BSCL2"],"definition":"A rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated."},"zh":{"name":"严重神经退行综合征伴脂肪营养不良","synonyms":["BSCL2缺乏所致严重神经退行性综合征"],"definition":"伴有脂肪营养不良的严重神经退行性综合征是一种罕见的遗传性神经退行性疾病，其特征是进行性精神运动和认知退化(表现为步态共济失调、痉挛、语言丧失、轻度至重度智力障碍、锥体束和锥体外系征，以及经常出现三叉神经麻痹或四肢瘫)，与不同程度的脂肪营养不良、肝肿大、高甘油三酯血症和肌肉肥大有关。多动症、震颤和癫痫的发展也可能相关。"},"tr":{"name":"Lipodistrofi ile seyreden ağır nörodejeneratif sendrom","synonyms":["BSCL2 eksikliğine bağlı ağır nörodejeneratif sendrom"]}},"xrefs":[{"source":"OMIM","code":"615924","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014402","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750956","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"BSCL2","name":"BSCL2 lipid droplet biogenesis associated, seipin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23564749[PMID]","hgnc":"15832","ensembl":"ENSG00000168000","omim":"606158","loci":["11q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"27632409[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27632409[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-10","source":"23564749[PMID]_27710244[PMID]","terms":[{"hpo":"HP:0002448","label":"Progressive encephalopathy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009064","label":"Generalized lipodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007272","label":"Progressive psychomotor deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025128","label":"Reduced intraabdominal adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003758","label":"Reduced subcutaneous adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002275","label":"Poor motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002340","label":"Caudate atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002529","label":"Neuronal loss in central nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very rare (<4-1%)","criteria":null}]}}