{"orpha":247815,"name":"Autosomal recessive ataxia due to PEX10 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mild peroxisomal disorder due to PEX10 deficiency"],"definition":"A rare genetic, peroxisomal disease characterized by childhood onset slowly progressive ataxia and axonal motor neuropathy due to PEX 10 deficieny. Marked cerebellar atrophy and pyramidal signs are evident. Patients may present mild cognitive disability, intentional tremor, decreased vibration sense and diabetes mellitus. Additional features may include nystagmus, mydriasis, hyperreflexia and involuntary head movement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247815/","orphanet_url":"https://www.orpha.net/en/disease/detail/247815","names":{"fr":{"name":"Ataxie autosomique récessive par déficit en PEX10","synonyms":["Maladie peroxysomale modérée par déficit en PEX10"],"definition":"Maladie génétique peroxysomale rare, caractérisée par une ataxie et une neuropathie motrice axonale lentement progressives apparaissant dans l'enfance et dues à un déficit en PEX&nbsp;10. Une atrophie cérébelleuse marquée et des signes pyramidaux sont observés. Les patients peuvent présenter une déficience intellectuelle légère, un tremblement intentionnel, une altération du sens des vibrations et un diabète sucré. D'autres caractéristiques peuvent inclure un nystagmus, une mydriase, une hyperréflexie et des mouvements involontaires de la tête."},"de":{"name":"Ataxie, autosomal-rezessive, durch PEX10-Mangel","synonyms":["Milde peroxisomale Störung durch PEX10-Mangel"],"definition":"Eine genetisch bedingte peroxisomale Erkrankung, die durch eine langsam fortschreitende Ataxie und axonale motorische Neuropathie im Kindesalter aufgrund eines PEX-10-Mangels gekennzeichnet ist. Ausgeprägte Kleinhirnatrophie und pyramidale Anzeichen sind offensichtlich. Die Patienten können eine leichte Intelligenzminderung, absichtlichen Tremor, vermindertes Vibrationsempfinden und Diabetes mellitus aufweisen. Weitere Merkmale können Nystagmus, Mydriasis, Hyperreflexie und unwillkürliche Kopfbewegungen sein."},"es":{"name":"Ataxia autosómica recesiva por deficiencia de PEX10","synonyms":["Trastorno peroxisomal moderado por deficiencia de PEX10"],"definition":"Es una enfermedad peroxisomal, de origen genético y poco frecuente, caracterizada por ataxia lentamente progresiva y neuropatía motora axonal de inicio en la infancia por deficiencia de <i>PEX10</i>. Está caracterizada una marcada atrofia cerebelosa y signos piramidales. Los pacientes pueden presentar leve discapacidad intelectual, temblor intencional, disminución de la sensibilidad vibratoria y diabetes mellitus. Las características adicionales pueden incluir nistagmo, midriasis, hiperreflexia y movimientos involuntarios de la cabeza."},"it":{"name":"Atassia autosomica recessiva da deficit di PEX10","synonyms":["Disturbo perossisomiale lieve da deficit di PEX10"]},"nl":{"name":"Autosomaal recessieve ataxie door PEX10-deficiëntie","synonyms":["Milde peroxismale afwijking door PEX10-deficiëntie"],"definition":"Een zeldzame genetische peroxisomale aandoening, gekenmerkt door aanvang in de kindertijd van traag progressieve ataxie en axonale motorische neuropathie door PEX10-deficiëntie. Aanzienlijke cerebellaire atrofie en piramidale verschijnselen zijn duidelijk aanwezig. Patiënten vertonen mogelijk milde cognitieve beperking, intentietremor, verminderde vibratiezin, en diabetes mellitus. Mogelijke bijkomende kenmerken zijn onder meer nystagmus, mydriasis, hyperreflexie en onvrijwillige hoofdbeweging."},"pt":{"name":"Ataxia autossómica recessiva por deficiência PEX10","definition":"Doença genética peroxissomal rara, caracterizada por ataxia lentamente progressiva de início na infância e neuropatia motora axonal devido à deficiência de PEX 10. Os sinais piramidais e atrofia cerebelosa acentuada são evidentes. Os doentes podem apresentar perturbação do desenvolvimento intelectual ligeira, tremor intencional, diminuição da sensibilidade vibratória e diabetes mellitus. As características adicionais podem incluir nistagmo, midríase, hiperreflexia e movimento involuntário da cabeça."},"pl":{"name":"Autosomalna recesywna ataksja z powodu niedoboru PEX10","synonyms":["Łagodne zaburzenia peroksysomalne z powodu niedoboru PEX10"],"definition":"Rzadka genetyczna choroba peroksysomalna charakteryzująca się powoli postępującą ataksją i aksonalną neuropatią ruchową o początku w wieku dziecięcym, związana z niedoborem PEX10. Obserwuje się wyraźny zanik móżdżku i objawy piramidowe. U pacjentów może wystąpić łagodna niepełnosprawność intelektualna, drżenie zamiarowe, osłabione czucie wibracji oraz cukrzyca. Dodatkowe objawy to oczopląs, rozszerzenie źrenic, wygórowane odruchy oraz mimowolne ruchy głowy."},"cs":{"name":"Autozomálně recesivní ataxie způsobená deficitem PEX10","synonyms":["Mírná peroxisomální porucha způsobená deficitem PEX10"]},"uk":{"name":"Аутосомно-рецесивна атаксія внаслідок дефіциту PEX10","synonyms":["Легкий пероксисомний розлад внаслідок дефіциту PEX10"],"definition":"A rare genetic, peroxisomal disease characterized by childhood onset slowly progressive ataxia and axonal motor neuropathy due to PEX 10 deficieny. Marked cerebellar atrophy and pyramidal signs are evident. Patients may present mild mental retardation, intentional tremor, decreased vibration sense and diabetes mellitus. Additional features may include nystagmus, mydriasis, hyperreflexia and involuntary head movement."},"zh":{"name":"PEX10基因缺乏所致常染色体隐性遗传性共济失调","synonyms":["PEX10基因缺乏所致轻型过氧化物酶病"]},"tr":{"name":"PEX10 eksikliğine bağlı otozomal resesif ataksi","synonyms":["PEX10 eksikliğine bağlı hafif peroksismal bozukluk"]}},"xrefs":[{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A03.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016614","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679614","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98096,"name":"Autosomal recessive metabolic cerebellar ataxia","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":68373,"name":"Peroxisomal disease","classifications":[150,156]}],"children":[],"genes":[{"symbol":"PEX10","name":"peroxisomal biogenesis factor 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20695019[PMID]","hgnc":"8851","ensembl":"ENSG00000157911","omim":"602859","loci":["1p36.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"27230853[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27230853[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-30","source":"28320181[PMID]_27230853[PMID]_20695019[PMID]_8982949[PMID]","terms":[{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010965","label":"Abnormal circulating phytanic acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100275","label":"Diffuse cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008167","label":"Very long chain fatty acid accumulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002457","label":"Abnormal head movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011499","label":"Mydriasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Excluded (0%)","criteria":null}]}}