{"orpha":401780,"name":"Autosomal recessive spastic paraplegia type 61","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG61"],"definition":"Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the <i>ARL6IP1</i> gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401780/","orphanet_url":"https://www.orpha.net/en/disease/detail/401780","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 61","synonyms":["SPG61"],"definition":"Forme extrêmement rare et complexe de paraplégie spastique héréditaire caractérisée par l'apparition, pendant la petite enfance, d'une paraplégie spastique (se manifestant par une incapacité à marcher sans aide et une démarche dite «&nbsp;en ciseaux&nbsp;») associée à une polyneuropathie motrice et sensitive avec absence des phalanges distales et acropathie. La maladie est due à une mutation du gène <i>ARL6IP1</i> (16p12-p11.2) codant pour l'ADP-ribosylation factor-like protein 6-interacting protein&nbsp;1."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 61","synonyms":["SPG61"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 61 (SPG61) ist eine seltene, komplexe Form der hereditären spastischen Paraplegie, die durch einen Beginn der Spastik im Kleinkindalter (Scherengang und freies Gehen sind nicht möglich) gekennzeichnet ist. Zusätzlich treten eine motorische und sensible Polyneuropathie mit dem Verlust der Fingerkuppen und Extremitäten-Erkrankungen. SPG61 entsteht durch eine Mutation im <i>ARL6IP1</i>-Gen (16p12-p11.2), welches das ADP-Ribosylierungsfaktor-ähnliche Protein 6-interagierende Protein 1 kodiert."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 61","synonyms":["SPG61"],"definition":"Es una forma compleja y poco frecuente de paraplejía espástica hereditaria caracterizada por el inicio en la lactancia de paraplejía espástica (que se presenta con incapacidad para deambular sin apoyo y marcha en tijera) asociada a polineuropatía motora y sensitiva con pérdida de los dedos terminales y acropatía. La enfermedad es debida a una mutación en el gen <i>ARL6IP1</i> (16p12-p11.2) que codifica para la proteína 1 de interacción con la proteína 6 similar al factor de ADP-ribosilación."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 61","synonyms":["SPG61"],"definition":"La paraplegia spastica autosomica recessiva tipo 61 (SPG61) è una forma rara e complessa di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica ad esordio infantile (con incapacità alla deambulazione senza sostegno ed andatura ''a forbice''), associata a polineuropatia sensoriale e motoria con perdita della sensibilità delle estremità delle dita e acropatia. La SPG61 è causata da una mutazione nel gene ARL6IP1 (16p12-p11.2) che codifica la proteina 1 che interagisce con la proteina 6 simile al fattore della ribosilazione dell'ADP."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 61","synonyms":["SPG61"],"definition":"Autosomaal recessieve spastische paraplegie type 61 (SPG61) is een zeldzame, complexe vorm van erfelijke spastische paraplegie die gekarakteriseerd wordt door aanvang in de zuigelingentijd van spastische paraplegie (die zich voordoet met een onvermogen om zonder ondersteuning te stappen en een schaargang), geassocieerd met een motorische en sensorische polyneuropathie met verlies van terminale vingers/tenen en acropathie. SPG61 is het gevolg van een mutatie in het gen <i>ARL6IP1</i> (16p12-p11.2), dat codeert voor het ADP-ribosylatiefactor-achtig proteïne 6-interagerend proteïne 1."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 61"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 61","synonyms":["SPG61"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 61","synonyms":["SPG61"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 61","synonyms":["SPG61"],"definition":"Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the <i>ARL6IP1</i> gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫61型","synonyms":["SPG61"],"definition":"常染色体隐性遗传性痉挛性截瘫61型(SPG61)是一种罕见的复杂形式的遗传性痉挛性截瘫，其特征是在婴儿期出现痉挛性截瘫(表现为独立行走不能和剪刀步态)，并伴有指/趾末梢缺失和肢端病变的运动和感觉多发性神经病。SPG61是由于编码ADP核糖化因子样蛋白6相互作用蛋白1的ARL6IP1基因(16p12-p11.2)突变所致。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 61","synonyms":["SPG61"]}},"xrefs":[{"source":"OMIM","code":"615685","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":"0014304","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3810294","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17656","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]}],"children":[],"genes":[{"symbol":"ARL6IP1","name":"ARL6 interacting reticulophagy regulator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24482476[PMID]","hgnc":"697","ensembl":"ENSG00000170540","omim":"607669","loci":["16p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["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":"2018-02-07","source":"24482476[PMID]","terms":[{"hpo":"HP:0005109","label":"Abnormality of the Achilles tendon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007083","label":"Hyperactive patellar reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012407","label":"Scissor gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null}]}}