{"orpha":827,"name":"Stargardt disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Fundus flavimaculatus","Stargardt 1"],"definition":"A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-827/","orphanet_url":"https://www.orpha.net/en/disease/detail/827","names":{"fr":{"name":"Maladie de Stargardt","synonyms":["Dystrophie maculaire flavimaculée","Fundus flavimaculatus","Stargardt 1"],"definition":"Maladie ophtalmique rare caractérisée généralement par une perte progressive de la vision centrale associée à des taches maculaires et périmaculaires jaunâtres et blanchâtres réparties sur le fond d'oeil, et une atrophie touchant le centre de la macula, présentant un aspect de « bronze martelé »."},"de":{"name":"Stargardt-Krankheit","synonyms":["Fundus flavimaculatus","Stargardt Makuladystrophie"],"definition":"Eine seltene Augenerkrankung, die gekennzeichnet ist durch einen fortschreitenden Verlust des zentralen Sehvermögens in Verbindung mit unregelmäßigen makulären und perimakulären gelb-weißen Fundusflecken und einer atrophischen zentralen Makulaläsion, deren Erscheinungsbild an 'gehämmerte Bronze' erinnert."},"es":{"name":"Enfermedad de Stargardt","synonyms":["Fundus flavimaculatus","Stargardt 1"],"definition":"Es un trastorno oftálmico poco frecuente que, por lo general, está caracterizado por una pérdida progresiva de la visión central asociada a un moteado macular y perimacular irregular blanco-amarillento que se aprecia en el fondo de ojo, y una lesión macular central atrófica con apariencia de \"bronce golpeado\"."},"it":{"name":"Malattia di Stargardt","synonyms":["Fundus flavimaculatus","Stargardt 1"],"definition":"Si tratta di una malattia oculare rara, di solito caratterizzata da perdita progressiva della visione centrale associata a chiazze maculari e perimaculari irregolari di colore giallo-bianco sul fondo dell'occhio, e a una lesione atrofica maculare centrale con aspetto ''a bronzo battuto''."},"nl":{"name":"Ziekte van Stargardt","synonyms":["Fundus flavimaculatus","Stargardt 1"],"definition":"Een zeldzame oftalmologische aandoening, doorgaans gekarakteriseerd door een progressief verlies van centraal zicht, geassocieerd met onregelmatige maculaire en perimaculaire geel-witte vlekken in de fundus oculi, alsook een zogeheten \"geslagen brons\" atrofische laesie centraal op de macula."},"pt":{"name":"Doença de Stargardt","synonyms":["Fundo flavimaculatus"]},"pl":{"name":"Choroba Stargardta","synonyms":["Dno żółto-plamiste","Stargardt 1"],"definition":"Rzadka choroba narządu wzroku, która zwykle charakteryzuje się postępującą utratą widzenia centralnego wskutek obecności nieregularnych biało-żółtych punktowych zmian w obrębie i wokół plamki żółtej oraz zanikowych zmian w centralnym obszarze plamki o charakterze tzw. „bitego brązu”."},"cs":{"name":"Stargardtova nemoc","synonyms":["Fundus flavimaculatus","Stargardt 1"]},"uk":{"name":"Хвороба Старгардта","synonyms":["Очне яблуко (Fundus flavimaculatus)","Старгардт 1"],"definition":"A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion."},"zh":{"name":"Stargardt病","synonyms":["眼底黄色斑点症"]},"tr":{"name":"Stargardt hastalığı","synonyms":["Stargardt 1","Fundus flavimakulatus"]}},"xrefs":[{"source":"OMIM","code":"248200","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"600110","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603786","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1690038580"},{"source":"MONDO","code":"0019353","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000080362","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271093","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"181","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062766","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717324,"name":"Rare genetic isolated progressive generalized retinal disorder","classifications":[156,189]},{"orpha":717336,"name":"Rare genetic isolated progressive predominantly macular disorder","classifications":[156]},{"orpha":716432,"name":"Rare isolated progressive predominantly macular disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"CNGB3","name":"cyclic nucleotide gated channel subunit beta 3","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"15712225[PMID]","hgnc":"2153","ensembl":"ENSG00000170289","omim":"605080","loci":["8q21.3"]},{"symbol":"PRPH2","name":"peripherin 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"9942","ensembl":"ENSG00000112619","omim":"179605","loci":["6p21.1"]},{"symbol":"ABCA4","name":"ATP binding cassette subfamily A member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20633576[PMID]","hgnc":"34","ensembl":"ENSG00000198691","omim":"601691","loci":["1p22.1"]},{"symbol":"ELOVL4","name":"ELOVL fatty acid elongase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20633576[PMID]","hgnc":"14415","ensembl":"ENSG00000118402","omim":"605512","loci":["6q14.1"]},{"symbol":"PROM1","name":"prominin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18654668[PMID]","hgnc":"9454","ensembl":"ENSG00000007062","omim":"604365","loci":["4p15.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-08","source":"36508525[PMID]_27739528[PMID]_27491360[PMID]","terms":[{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000610","label":"Abnormal choroid morphology","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000493","label":"Abnormal foveal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008002","label":"Abnormality of macular pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000603","label":"Central scotoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007704","label":"Paroxysmal involuntary eye movements","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007722","label":"Retinal pigment epithelial atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007814","label":"Retinal pigment epithelial mottling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030329","label":"Retinal thinning","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008059","label":"Aplasia/Hypoplasia of the macula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030786","label":"Photopsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030500","label":"Yellow/white lesions of the macula","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"}]}}