{"orpha":2666,"name":"Adult familial nephronophthisis-spastic quadriparesia syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2666/","orphanet_url":"https://www.orpha.net/en/disease/detail/2666","names":{"fr":{"name":"Syndrome de néphronophtise familiale de l'adulte-quadriparésie spastique","definition":"Maladie rénale rare, d'origine génétique, caractérisée par l'association d'une maladie kystique familiale de la médullaire rénale avec une quadriparésie spastique. Aucun cas n'a été décrit dans la littérature depuis 1990."},"de":{"name":"Adulte familiäre Nephronophthise-spastische Tetraparese-Syndrom","definition":"Eine seltene, genetisch bedingte Nierenerkrankung, die durch die Assoziation einer familiären medullären zystischen Erkrankung bei Erwachsenen mit spastischer Quadriparese gekennzeichnet ist. Seit 1990 gab es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de nefronoptisis familiar del adulto-quadriparesia espástica","definition":"A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990."},"it":{"name":"Sindrome da nefronoftisi familiare dell'adulto-tetraparesi spastica","definition":"Si tratta di una nefropatia genetica rara, caratterizzata da malattia cistica della midollare ad esordio nell'età adulta, associata a tetraparesi spastica. Non sono stati descritti nuovi casi dopo il 1990."},"nl":{"name":"Volwassen familiale nefronoftise - spastische quadriparese-syndroom","definition":"Een zeldzame, genetische nierziekte gekarakteriseerd door de associatie van familiale volwassen medullaire cystische ziekte met spastische quadriparese. Sinds 1990 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de nefronoptise familiar do adulto-tetraparésia espástica"},"pl":{"name":"Rodzinna nefronoftyza dorosłych - spastyczny niedowład czterokończynowy"},"cs":{"name":"Syndrom zahrnující adultní familiární nefronoftídu a spastickou kvadruparézu"},"uk":{"name":"Синдром сімейного нефронофтізу-спастичної квадрипарезу у дорослих","definition":"A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990."},"zh":{"name":"成人家族性肾消耗症-痉挛性麻痹四肢瘫痪综合征"},"tr":{"name":"Yetişkin ailesel nefronoftiz-spastik kuadriparezi sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q61.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB83","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"948025184"},{"source":"MONDO","code":"0017044","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518090","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2354560[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2354560[PMID]"}],"phenotypes":null}