{"orpha":99001,"name":"Butterfly-shaped pigment dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Butterfly-shaped pattern dystrophy","Butterfly-shaped pigmentary macular dystrophy"],"definition":"A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99001/","orphanet_url":"https://www.orpha.net/en/disease/detail/99001","names":{"fr":{"name":"Dystrophie maculaire en ailes de papillon","definition":"Dystrophie rare de l'épithélium pigmentaire rétinien caractérisée par une accumulation anormale de lipofuscine en forme de papillon au niveau de l'épithélium pigmentaire rétinien. Les patients présentent une perte de vision lentement progressive qui n'apparaît souvent qu'à un âge avancé."},"de":{"name":"Pigmentdystrophie, schmetterlingsförmige","synonyms":["Makuladystrophie, schmetterlingsförmige","Schmetterlingsförmige Musterdystrophie"],"definition":"Die schmetterlingsförmige Pigmentdystrophie ist eine figurierte Dystrophie des retinalen Pigmentepithels (s. dort), die durch eine abnorme Ansammlung von Lipofuscin in einer schmetterlingsförmigen Verteilung auf dem Niveau des retinalen Pigmentepithels gekennzeichnet ist. Patienten zeigen einen langsam fortschreitenden Sehverlust, der oft erst im Alter auftritt."},"es":{"name":"Distrofia pigmentaria en alas de mariposa","synonyms":["Distrofia en patrón en forma de mariposa","Distrofia macular pigmentaria en forma de mariposa"],"definition":"Es una distrofia en patrón del epitelio pigmentario retiniano caracterizada por un acúmulo anómalo de lipofuscina distribuido en forma de alas de mariposa en el epitelio pigmentario retiniano. Los pacientes manifiestan una pérdida lenta y progresiva de la visión que a menudo se hace aparente a una edad avanzada."},"it":{"name":"Distrofia pigmentaria a farfalla","synonyms":["Distrofia con pattern a farfalla","Distrofia maculare pigmentaria a farfalla"],"definition":"La distrofia pigmentaria ad ali di farfalla è un'alterazione caratteristica dell'epitelio pigmentato della retina (si veda questo termine), caratterizzata da un accumulo anomalo di lipofuscina, che ricorda la forma di una farfalla, a livello dell'epitelio pigmentato retinico. I pazienti presentano una perdita della vista a progressione lenta, che spesso si manifesta in tarda età."},"nl":{"name":"Vlindervormige pigmentdystrofie","synonyms":["Dystrofie met vlindervormig patroon","Vlindervormige pigmentdystrofie van macula"],"definition":"Een zeldzame patroondystrofie van retinaal pigmentepitheel, gekarakteriseerd door abnormale accumulatie van lipofuscine in een vlindervormige verdeling ter hoogte van het retinaal pigmentepitheel. Patiënten vertonen een traag progressief functieverlies van het zicht dat vaak pas merkbaar wordt op latere leeftijd."},"pt":{"name":"Distrofia pigmentosa em forma de borboleta","synonyms":["Distrofia em padrão em forma de borboleta","Distrofia macular pigmentosa em forma de borboleta"]},"pl":{"name":"Dystrofia barwnikowa w kształcie motyla","synonyms":["Butterfly-shaped pattern dystrophy","Butterfly-shaped pigmentary macular dystrophy"]},"cs":{"name":"Motýlovitá pigmentová dystrofie","synonyms":["Motýlovitá vzorovaná dystrofie","Motýlovitá pigmentová makulární dystrofie"]},"uk":{"name":"Метеликоподібна пігментна дистрофія","synonyms":["Дистрофія метеликоподібного малюнка","Пігментна макулодистрофія у формі метелика"],"definition":"A rare patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age."},"zh":{"name":"蝶形色素营养不良","synonyms":["蝶状色素性黄斑营养不良"],"definition":"该病是一种罕见的视网膜色素上皮营养不良，其特征是脂褐素在视网膜色素上皮水平以蝴蝶状分布异常堆积。患者表现为缓慢进行性的视力丧失，通常在老年期变得明显。"},"tr":{"name":"Kelebek şekilli pigment distrofisi","synonyms":["Kelebek şeklindeki desen distrofi","Kelebek şeklindeki pigmenter maküler distrofi"]}},"xrefs":[{"source":"OMIM","code":"169150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608970","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610125","qualifier":"NTBT","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":"1639469808"},{"source":"MONDO","code":"0100466","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511237","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":63454,"name":"Pattern dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CTNNA1","name":"catenin alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26691986[PMID]","hgnc":"2509","ensembl":"ENSG00000044115","omim":"116805","loci":["5q31.2"]},{"symbol":"OTX2","name":"orthodenticle homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25293953[PMID]","hgnc":"8522","ensembl":"ENSG00000165588","omim":"600037","loci":["14q22.3"]},{"symbol":"PRPH2","name":"peripherin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8485574[PMID]","hgnc":"9942","ensembl":"ENSG00000112619","omim":"179605","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"22466463[PMID]_22577225[PMID]_24167467[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"22466463[PMID]_22577225[PMID]_24167467[PMID]_ORPHANET"}],"phenotypes":null}