{"orpha":728764,"name":"NIT1-related cerebral small vessel disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NIT1-brain small vessel disease","NIT1-SVD"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-728764/","orphanet_url":"https://www.orpha.net/en/disease/detail/728764","names":{"fr":{"name":"Maladie des petites artères cérébrales associée à NIT1"},"de":{"name":"Zerebrale Mikroangiopathie, NIT1-abhängige","synonyms":["Angiopathie, zerebrale, NIT1-assoziierte","NIT1-SVD"]},"es":{"name":"Enfermedad de los pequeños vasos cerebrales asociada al gen NIT1","synonyms":["NIT1-SVD"]},"it":{"name":"Malattia dei piccoli vasi cerebrali correlata a NIT1","synonyms":["NIT1-SVD","Malattia dei piccoli vasi cerebrali-NIT1"]},"nl":{"name":"NIT1-gerelateerde ziekte van kleine hersenvaten","synonyms":["NIT1-gerelateerde aandoening van klein bloedvat van hersenen","NIT1-gerelateerde cerebrale microangiopathie","NIT1-SVD"]},"pt":{"name":"NIT1-related cerebral small vessel disease"},"pl":{"name":"NIT1-related cerebral small vessel disease","synonyms":["NIT1-brain small vessel disease","NIT1-SVD"]},"cs":{"name":"NIT1-related cerebral small vessel disease","synonyms":["NIT1-brain small vessel disease","NIT1-SVD"]}},"xrefs":[{"source":"OMIM","code":"621313","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79196,"name":"Disorder of the gamma-glutamyl cycle","classifications":[150,156]},{"orpha":477754,"name":"Genetic cerebral small vessel disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NIT1","name":"nitrilase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38430071[PMID]","hgnc":"7828","ensembl":"ENSG00000158793","omim":"604618","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}