{"orpha":466794,"name":"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive spinocerebellar ataxia type 21","SCAR21"],"definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466794/","orphanet_url":"https://www.orpha.net/en/disease/detail/466794","names":{"fr":{"name":"Syndrome d'insuffisance hépatique aiguë infantile-ataxie cérébelleuse-neuropathie sensitivo-motrice périphérique","synonyms":["Ataxie spinocérébelleuse autosomique récessive type 21","SCAR21"],"definition":"Neuropathie sensitivo-motrice axonale héréditaire autosomique récessive rare caractérisée par des épisodes récurrents d'insuffisance hépatique aiguë d'apparition infantile (entraînant une fibrose hépatique chronique et une hépatosplénomégalie), d'un retard de développement moteur, d'une dysfonction cérébelleuse entraînant des troubles de la marche et des tremblements d'intention, d'un bégaiement neurogène, d'une neuropathie motrice et sensorielle avec une faiblesse musculaire, en particulier dans les membres inférieurs, ainsi qu'un engourdissement. Une déficience intellectuelle légère a été rapportée chez certains patients. L'IRM du cerveau révèle une atrophie non progressive du vermis cérébelleux et un amincissement du nerf optique."},"de":{"name":"Akutes infantiles Leberversagen-zerebelläre Ataxie-periphere sensomotorische Neuropathie-Syndrom","synonyms":["Ataxie, spinozerebelläre, autosomal-rezessive, Typ 21","SCAR21"],"definition":"Eine autosomal-rezessive motorisch-sensorische axonale Neuropathie, die sich im Kindesalter manifestiert und gekennzeichnet ist durch rezidivierende Episoden akuten Leberversagens (mit chronischer Leberfibrose und Hepatosplenomegalie), motorische Entwicklungsverzögerung, Kleinhirnfunktionsstörungen in Form von Gangstörungen und Intentionstremor, neurogenem Stottern sowie motorisch-sensorischer Neuropathie mit Muskelschwäche (insbesondere in den Unterschenkeln) und Taubheitsgefühl. Bei einigen Patienten wurde eine leichte Intelligenzminderung festgestellt. Die Kernspintomographie des Gehirns zeigt eine nicht fortschreitende Atrophie des Kleinhirns und eine Ausdünnung des Sehnervs."},"es":{"name":"Síndrome de insuficiencia hepática aguda-ataxia cerebelosa-neuropatía periférica sensitivo-motora infantil","synonyms":["Ataxia espinocerebelosa autosómica recesiva tipo 21","SCAR21","Síndrome de fallo hepático-ataxia cerebelosa-neuropatía periférica sensitivo-motora infantil"],"definition":"Es una neuropatía axonal sensitivo-motora hereditaria autosómica recesiva poco frecuente caracterizada por el inicio en la lactancia de episodios recurrentes de insuficiencia hepática aguda (que causan fibrosis hepática crónica y hepatoesplenomegalia), retraso del desarrollo motor, disfunción cerebelosa que se presenta como trastornos de la marcha y temblor intencional, tartamudez neurogénica y neuropatía sensitivo-motora con debilidad muscular especialmente en la región inferior de las piernas y adormecimiento. En algunos pacientes se ha descrito una leve discapacidad intelectual. La resonancia magnética cerebral muestra atrofia no progresiva del vermis cerebeloso y adelgazamiento del nervio óptico."},"it":{"name":"Sindrome insufficienza epatica acuta neonatale-atassia cerebellare-neuropatia sensitivo-motoria periferica","definition":"Si tratta di una neuropatia sensitivo-motoria assonale ereditaria rara, a trasmissione autosomica recessiva, che esordisce nel periodo neonatale con episodi ricorrenti di insufficienza epatica acuta (che esita nella fibrosi epatica cronica e nell'epatosplenomegalia), ritardo dello sviluppo motorio, disfunzione cerebellare che si manifesta con anomalie dell'andatura e tremore intenzionale, balbuzie neurogena, neuropatia sensitivo-motoria associata a debolezza muscolare che interessa prevalentemente la parte inferiore delle gambe, e insensibilità. Alcuni pazienti presentano una lieve disabilità intellettiva. Le neuroimmagini mostrano un'atrofia non progressiva del verme cerebellare e l'assottigliamento del nervo ottico."},"nl":{"name":"Acuut infantiel leverfalen - cerebellaire ataxie - perifere sensomotorische neuropathie-syndroom","synonyms":["Autosomaal recessieve spinocerebellaire ataxie type 21","SCAR21"],"definition":"Een zeldzame autosomaal recessieve axonale hereditaire motorische en sensorische neuropathie, gekarakteriseerd door infantiele aanvang van terugkerende episodes van acuut leverfalen (met chronische leverfibrose en hepatosplenomegalie tot gevolg), motorische ontwikkelingsachterstand, cerebellaire disfunctie die zich presenteert als gangstoornissen en intentietremor, neurogeen stotteren, en motorische en sensorische neuropathie met spierzwakte, vooral in de onderbenen, en gevoelloosheid. Bij sommige patiënten werd milde intellectuele beperking gerapporteerd. MRI van hersenen toont niet-progressieve atrofie van vermis cerebelli en verdunning van oogzenuw."},"pt":{"name":"Síndrome de insuficiência hepática aguda da infância-ataxia cerebelosa-neuropatia sensitivo-motora periférica","synonyms":["Ataxia espinocerebelosa autossómica recessiva tipo 21","SCAR21"]},"pl":{"name":"Zespół ostrej niewydolności wątroby niemowląt, ataksji móżdżkowej oraz obwodowej neuropatii czuciowej","synonyms":["Autosomalna recesywna ataksja mózdżkowo-rdzeniowa typu 21","SCAR21"]},"cs":{"name":"Syndrom akutního dětského jaterního selhání, cerebelární ataxie a periferní senzorimotorické neuropatie","synonyms":["SCAR21","Autosomal recessive spinocerebellar ataxia type 21","Autozomálně recesivní spinocerebelární ataxie typu 21"]},"uk":{"name":"Синдром гострої інфантильної печінкової недостатності-мозочкової атаксії- периферичної сенсорної моторної нейропатії","synonyms":["Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 21","SCAR21"],"definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve."},"zh":{"name":"急性婴儿肝功能衰竭-小脑共济失调-周围感觉运动神经病综合征","synonyms":["常染色体隐性脊髓小脑性共济失调21型"],"definition":"一种罕见的常染色体隐性轴索遗传性运动和感觉神经病，其特点是婴儿期开始反复发作急性肝衰竭（导致慢性肝纤维化和肝脾肿大），运动发育迟缓，小脑功能障碍，表现为步态障碍和意向性震颤，神经源性口吃，运动和感觉神经病变，尤其是小腿肌肉无力和麻木。部分患者有轻度智力障碍。脑部MRI显示小脑皮层非进行性萎缩和视神经变薄。"},"tr":{"name":"Akut infantil karaciğer yetmezliği-serebellar ataksi-periferik duyusal motor nöropati sendromu","synonyms":["SCAR21","Otozomal çekinik spinoserebellar ataksi tip 21"]}},"xrefs":[{"source":"OMIM","code":"616719","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014744","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569084","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]},{"orpha":98099,"name":"Autosomal recessive syndromic cerebellar ataxia","classifications":[156,181]},{"orpha":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SCYL1","name":"SCY1 like pseudokinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26581903[PMID]","hgnc":"14372","ensembl":"ENSG00000142186","omim":"607982","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26581903[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26581903[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-05","source":"26581903[PMID]_23175812[PMID]_17571074[PMID]","terms":[{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000641","label":"Dysmetric saccades","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009055","label":"Generalized limb muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001152","label":"Saccadic smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025268","label":"Stuttering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Excluded (0%)","criteria":null}]}}