{"orpha":689231,"name":"IFIH1-related hereditary spastic paraplegia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Interferon induced with helicase C domain 1-related hereditary spastic paraplegia"],"definition":"A rare pure hereditary spastic paraplegia characterized by spastic paraparesis and normal neuroimaging (no leukodystrophy or calcification in the brain). It is a slowly progressing disease in which patients present with varying degrees of toe-walking, frequent falls and a spastic gait, as well as increased tone or obvious spastic paralysis, weakness, and hyperreflexia of the lower limbs. Additional clinical features may include gross hematuria, fibrillation and atrophy of the tongue muscles, and upper limb involvement such as bilateral upper extremity weakness, hypotonia, and atrophy of the interosseous and thenar muscles in the hands. Chilblain lesions and intellectual disability are absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-689231/","orphanet_url":"https://www.orpha.net/en/disease/detail/689231","names":{"fr":{"name":"Paraplégie spastique héréditaire associée à IFIH1","synonyms":["Paraparésie spastique héréditaire associée à IFIH1","Paraplégie spastique héréditaire associée au gène Interferon induced with helicase C domain 1"],"definition":"Paraplégie spastique héréditaire pure rare, caractérisée par une paraparésie spastique et une neuroimagerie normale (absence de leucodystrophie ou de calcification cérébrale). La maladie est lentement progressive et les patients présentent, à des degrés divers, une marche sur la pointe des pieds, des chutes fréquentes et une démarche spastique, ainsi qu'une augmentation du tonus ou une paralysie spastique manifeste, une faiblesse et une hyperréflexie des membres inférieurs. D'autres signes cliniques peuvent inclure une hématurie macroscopique, une fibrillation et une atrophie des muscles de la langue, ainsi qu'une atteinte des membres supérieurs telle qu'une faiblesse bilatérale des membres supérieurs, une hypotonie et une atrophie des muscles interosseux et thénariens des mains. Aucune lésion de type engelure ni déficience intellectuelle n'est observée."},"de":{"name":"Hereditäre spastische Paraplegie, IFIH1-assoziierte"},"es":{"name":"Paraplejía espástica hereditaria asociada a IFH1","synonyms":["Paraplejía espástica hereditaria asociada al dominio 1 de la helicasa C inducida por interferón"]},"it":{"name":"paraplegia spastica ereditaria correlata a IFIH1","synonyms":["Paraplegia spastica ereditaria indotta dall'interferone correlata al dominio 1 dell'elicasi C"]},"nl":{"name":"IFIH1-gerelateerde hereditaire spastische paraplegie","synonyms":["Hereditaire spastische paraplegie gerelateerd aan interferon geïnduceerd met helicase C domein 1"]},"pt":{"name":"Paraplegia espástica hereditária IFH1-relacionada"},"pl":{"name":"Dziedziczna paraplegia spastyczna związana z IFH1","synonyms":["Interferon induced with helicase C domain 1-related hereditary spastic paraplegia"]},"cs":{"name":"Dědičná spastická paraplegie související s IFH1","synonyms":["Interferon induced with helicase C domain 1-related hereditary spastic paraplegia"]}},"xrefs":[{"source":"OMIM","code":"615846","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100980,"name":"Autosomal dominant pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"IFIH1","name":"interferon induced with helicase C domain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31427910[PMID]","hgnc":"18873","ensembl":"ENSG00000115267","omim":"606951","loci":["2q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}