{"orpha":91496,"name":"Snowflake vitreoretinal degeneration","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91496/","orphanet_url":"https://www.orpha.net/en/disease/detail/91496","names":{"fr":{"name":"Dégénérescence vitréo-rétinienne en flocons de neige","definition":"La dégénérescence vitréorétinienne en « flocons de neige » est caractérisée par la présence de petits dépôts de type granulaire ressemblant à des flocons de neige sur la rétine, par une dégénérescence vitreuse fibrillaire et par une cataracte. La prévalence est inconnue mais la maladie a été décrite dans plusieurs familles. Le mode de transmission est autosomique dominant et le gène responsable de la maladie a été localisé sur une petite région du chromosome 2q36."},"de":{"name":"Vitreoretinale Schneeflocken-Degeneration","synonyms":["Schneeflocken-Vitreoretinopathie"],"definition":"Die Schneeflocken-Vitreoretinopathie (snowflake vitreoretinal degeneration, SVD) ist gekennzeichnet durch kleine, granuläre, schneeflocken-ähnliche Ablagerungen in der Retina, fibrilläre Degeneration des Glaskörpers und Katarakt."},"es":{"name":"Degeneración vitreorretiniana tipo copo de nieve","definition":"Es un trastorno caracterizado por la presencia de pequeños depósitos granulares en la retina que se asemejan a copos de nieve, degeneración vítrea fibrilar y cataratas. Se desconoce la prevalencia, pero el trastorno se ha descrito en varias familias. La transmisión es autosómica dominante y el gen causante se ha localizado en una pequeña región del cromosoma 2q36."},"it":{"name":"Degenerazione vitreoretinica a fiocchi di neve"},"nl":{"name":"Vitreoretinale degeneratie, sneeuwvlokken-type","definition":"Vitreoretinale degeneratie, sneeuwvlokken-type (SVD) wordt gekenmerkt door de aanwezigheid van kleine granulair uitziende afzettingen die lijken op sneeuwvlokken in retina, fibrillaire degeneratie van corpus vitreum, en cataract. De prevalentie is niet gekend, maar de aandoening werd beschreven bij meerdere families. Transmissie gebeurt autosomaal dominant, en het causale gen werd gelokaliseerd in een kleine regio op chromosoom 2q36."},"pt":{"name":"Degeneração vitreo-retiniana em floco de neve"},"pl":{"name":"Zwyrodnienie ciała szklistego i siatkówki typu \"płatki śniegu"},"cs":{"name":"Vločkovitá vitreoretinální degenerace"},"uk":{"name":"Вітреоретинальна дегенерація за типом сніжинки","definition":"Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36."},"zh":{"name":"雪花状玻璃体视网膜变性","definition":"雪花玻璃体视网膜变性（SVD）的特征是在视网膜中存在类似于雪花的小颗粒状沉积物，纤维状玻璃体变性和白内障。患病率未知，但已经在多个家庭中报道了这种疾病。该病呈常染色体显性遗传，并且致病基因定位于染色体2q36上的一个小区域。"},"tr":{"name":"Kar tanesi vitreoretinal dejenerasyon"}},"xrefs":[{"source":"OMIM","code":"193230","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"282570444"},{"source":"MONDO","code":"0008663","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536677","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860405","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9706","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716441,"name":"Rare isolated progressive vitreoretinopathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"KCNJ13","name":"potassium inwardly rectifying channel subfamily J member 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18179896[PMID]","hgnc":"6259","ensembl":"ENSG00000115474","omim":"603208","loci":["2q37.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"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}