{"orpha":401810,"name":"Autosomal recessive spastic paraplegia type 64","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG64"],"definition":"Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia, reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the <i>ENTPD1</i> gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401810/","orphanet_url":"https://www.orpha.net/en/disease/detail/401810","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 64","synonyms":["SPG64"],"definition":"La paraplégie spastique autosomique récessive type 64 est une forme extrêmement rare et complexe de paraplégie spastique héréditaire, rapportée chez seulement 4&nbsp;patients issus de 2&nbsp;familles à ce jour. Elle se caractérise par une paraplégie spastique (se manifestant entre l'âge de 1 et 4&nbsp;ans par une démarche anormale) associée à une microcéphalie, une amyotrophie, des signes cérébelleux (dysarthrie), une agressivité, un retard de puberté et une déficience intellectuelle légère à modérée. La maladie est due à des mutations du gène <i>ENTPD1</i> (10q24.1), codant pour l'ectonucléoside triphosphate diphosphohydrolase&nbsp;1."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 64","synonyms":["SPG64"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 64 (SPG64) ist eine sehr seltene, komplexe Form der hereditären spastischen Paraplegie, die durch spastische Paraplegie (Beginn in der frühen Kindheit mit abnormalen Gangbild) charakterisiert ist. Zusätzlich findet am eine Mikrozephalie, Amyotrophie, zerebelläre Zeichen (z. B. Dysarthrie), aggressives Verhalten, verspätet einsetzende Pubertät und eine leichte bis moderate Intelligenzminderung. SPG64 entsteht durch Mutationen im <i>ENTPD1</i>-Gen (10q24.1), welches die Ektonukleosid-Triphostphat-Disphosphohydrolase 1 kodiert."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 64","synonyms":["SPG64"],"definition":"Es una forma extremadamente infrecuente y compleja de paraplejía espástica hereditaria. Hasta la fecha solo se ha descrito en 4 pacientes de 2 familias. Se caracteriza por paraplejía espástica (que se manifiesta en forma de marcha anómala entre los 1 y 4 años de edad) asociada a microcefalia, amiotrofia, signos cerebelosos (por ejemplo, disartria), comportamiento agresivo, pubertad retrasada y discapacidad intelectual de leve a moderada. Esta enfermedad está causada por mutaciones en el gen <i>ENTPD1</i> (10q24.1), que codifica la proteína ecto-nucleosido-trifosfato difosfohidrolasa 1."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 64","synonyms":["SPG64"],"definition":"La paraplegia spastica autosomica recessiva tipo 64 (SPG64) è una forma molto rara e complessa di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica (che esordisce all'età di 1-4 anni, con alterazioni dell'andatura) associata a microcefalia, amiotrofia, segni cerebellari (disartria), comportamento aggressivo, pubertà ritardata e disabilità cognitiva lieve-moderata. La SPG64 è causata dalle mutazioni nel gene ENTPD1 (10q24.1), che codifica l'ectonucleoside trifosfato difosfoidrolasi 1."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 64","synonyms":["SPG64"],"definition":"Autosomaal recessieve spastische paraplegie type 64 (SPG64) is een uiterst zeldzame en complexe vorm van erfelijke spastische paraplegie (zie deze trem) die tot op heden werd gerapporteerd bij slechts 4 patiënten uit 2 families, en die gekarakteriseerd wordt door spastische paraplegie (die zich voordoet tussen de leeftijd van 1 tot 4 jaar met een abnormale gang) geassocieerd met microcefalie, amyotrofie, cerebellaire tekenen (e.g. dysartrie), agressief gedrag, uitgestelde puberteit, en milde tot matige intellectuele achterstand. SPG64 is het gevolg van mutaties in het gen <i>ENTPD1</i> (10q24.1), dat codeert voor ectonucleosidetrifosfaat-difosfohydrolase 1."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 64"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 64","synonyms":["SPG64"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 64","synonyms":["SPG64"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 64","synonyms":["SPG64"],"definition":"Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the <i>ENTPD1</i> gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫64型","synonyms":["SPG64"],"definition":"常染色体隐性遗传性痉挛性截瘫64型是一种极为罕见的、复杂性遗传性痉挛性截瘫(见本术语)，迄今仅报道了2个家系的4例患者，其特征是痉挛性截瘫(1~4岁出现步态异常)，伴有小头畸形、肌萎缩、小脑体征(如构音障碍)侵袭性、青春期延迟和轻至中度智能障碍。SPG64是由于编码胞外核苷三磷酸二磷酸水解酶1的ENTPD1基因(10q24.1)突变所致。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 64","synonyms":["SPG64"]}},"xrefs":[{"source":"OMIM","code":"615683","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":"attributed","validated":true},{"source":"MONDO","code":"0014303","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3810289","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17659","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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ENTPD1","name":"ectonucleoside triphosphate diphosphohydrolase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"3363","ensembl":"ENSG00000138185","omim":"601752","loci":["10q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24482476[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24482476[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-06","source":"24482476[PMID]","terms":[{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null}]}}