{"orpha":306617,"name":"X-linked complicated spastic paraplegia type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["SPG1"],"definition":"A congenital, X-linked, clinical subtype of L1 syndrome, characterized by spastic paraplegia, mild to moderate intellectual disability and normal brain morphology. This subtype represents the milder end of the L1 syndrome spectrum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306617/","orphanet_url":"https://www.orpha.net/en/disease/detail/306617","names":{"fr":{"name":"Paraplégie spastique liée à l'X type 1","synonyms":["SPG1"],"definition":"Sous-type clinique congénital du syndrome L1, lié à l'X, caractérisé par une paraplégie spastique, une déficience intellectuelle légère à modérée, un cerveau normal sur le plan morphologique. Ce sous-type représente l'extrémité la plus légère du spectre du syndrome L1."},"de":{"name":"Spastische Paraplegie, komplizierte, X-chromosomale, Typ 1","synonyms":["SPG1"],"definition":"Ein klinischer Subtyp des X-chromosomalen L1-Syndroms, der durch spastische Paraplegie, leichte bis mittlere Intelligenzminderung und normale Hirnmorphologie gekennzeichnet ist. Dieser Subtyp stellt das mildere Ende des L1-Syndrom-Spektrums dar."},"es":{"name":"Paraplejía espástica complicada tipo 1 ligada al cromosoma X","synonyms":["SPG1"],"definition":"Es un subtipo clínico del síndrome L1, congénito y ligado al cromosoma X, caracterizado por paraplejía espástica, discapacidad intelectual de leve a moderada y morfología cerebral normal. Este subtipo representa el extremo más leve del espectro del síndrome L1."},"it":{"name":"Paraplegia spastica complicata legata all'X tipo 1","synonyms":["SPG1"],"definition":"Si tratta di un sottotipo clinico congenito legato all'X della sindrome L1, caratterizzato da paraplegia spastica, disabilità intellettiva lieve-moderata e normale morfologia del cervello. Questo sottotipo rappresenta la forma più lieve dello spettro della sindrome L1."},"nl":{"name":"X-gebonden gecompliceerde spastische paraplegie type 1","synonyms":["SPG1"],"definition":"Een congenitaal, X-gebonden, klinisch subtype van L1-syndroom, gekarakteriseerd door spastische paraplegie, milde tot matige intellectuele achterstand, en normale morfologie van hersenen. Dit subtype vertegenwoordigt het mildere uiteinden van het spectrum van L1-syndroom."},"pt":{"name":"Paraplegia espástica agravada ligada ao X tipo 1","synonyms":["Paraplegia espástica agravada ligada ao X tipo 1"]},"pl":{"name":"Powikłana paraplegia spastyczna typu 1 sprzężona z chromosomem X","synonyms":["SPG1"]},"cs":{"name":"X-vázaná komplikovaná spastická paraplegie, typ 1","synonyms":["SPG1"]},"uk":{"name":"Х-зчеплена ускладнена спастична параплегія, тип 1","synonyms":["SPG1"],"definition":"A congenital, X-linked, clinical subtype of L1 syndrome, characterized by spastic paraplegia, mild to moderate intellectual disability and normal brain morphology. This subtype represents the milder end of the L1 syndrome spectrum."},"zh":{"name":"X连锁复杂性痉挛性截瘫1型","synonyms":["痉挛性截瘫1型"]},"tr":{"name":"X'e bağlı karmaşık spastik parapleji tip 1","synonyms":["SPG1"]}},"xrefs":[{"source":"MONDO","code":"0017630","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5779711","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":275543,"name":"L1 syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"L1CAM","name":"L1 cell adhesion molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301657[PMID]","hgnc":"6470","ensembl":"ENSG00000198910","omim":"308840","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-15","source":"26008818[PMID]_22266886[PMID]_20301657[PMID]_23897027[PMID]","terms":[{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null}]}}