{"orpha":75327,"name":"North Carolina macular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAPE dystrophy","CAPED","Central areolar pigment epithelial dystrophy","Central retinal pigment epithelial dystrophy","MCDR1","NCMD","North Carolina macular dystrophy, retinal 1","Progressive foveal dystrophy"],"definition":"A non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75327/","orphanet_url":"https://www.orpha.net/en/disease/detail/75327","names":{"fr":{"name":"Dystrophie maculaire de la Caroline du Nord","synonyms":["Dystrophie CAPE","Dystrophie centrale aréolaire de l'épithélium pigmenté","Dystrophie fovéale progressive","Dystrophie maculaire rétinienne 1 type Caroline du Nord","Dystrophie rétinienne de l'épithélium pigmenté central","MCDR1"],"definition":"Maladie maculaire autosomique dominante rare, non progressive, d'apparition congénitale ou infantile caractérisée par une perte de la vision centrale, une accumulation de drusen dans la macula et une atrophie des cellules photoréceptrices avec un phénotype variable à l'examen maculaire."},"de":{"name":"North-Carolina-Makuladystrophie","synonyms":["CAPE","Foveadystrophie, progressive","MCDR1","Makuladystrophie, retinale 1, Typ North Carolina","NCMD","Pigmentepitheldystrophie, retinale zentrale","Zentrale areoläre Pigmentepithel Dystrophie"],"definition":"Eine nicht-progrediente angeborene oder im Säuglingsalter auftretende Störung der Makula mit Verlust des zentralen Visus, mit Ablagerung von Drusenablagerung in der Makula, Atrophie der Photorezeptoren und variablem Phänotyp bei der Untersuchung der Makula."},"es":{"name":"Distrofia macular de Carolina del Norte","synonyms":["CAPED","Distrofia CAPE","Distrofia areolar central del epitelio pigmentario","Distrofia foveal progresiva","Distrofia macular de la retina tipo Carolina del Norte","Distrofia retiniana central del epitelio pigmentario","MCDR1","NCMD"],"definition":"Es un trastorno macular autosómico dominante no progresivo, congénito o de aparición infantil, que se caracteriza por la pérdida de visión central, la acumulación de drusas en la mácula y atrofia de las células fotorreceptoras con un fenotipo variable en el examen macular."},"it":{"name":"Distrofia maculare della Carolina del Nord","synonyms":["CAPED","Distrofia CAPE","Distrofia centrale areolare dell'epitelio pigmentato","Distrofia centrale dell'epitelio retinico pigmentato","Distrofia maculare retinica della Carolina del Nord, tipo 1","Distrofia progressiva della fovea","MCDR1","NCMD"],"definition":"La distrofia maculare del Nord Carolina (NCMD) è una malattia maculare non progressiva autosomica dominante a esordio congenito o infantile, caratterizzata dalla perdita della vista centrale, accumulo di drusen nella macula e atrofia delle cellule dei fotorecettori con un fenotipo variabile all'esame della macula."},"nl":{"name":"North-Carolina-maculadystrofie","synonyms":["CAPE-dystrofie","CAPED","Centrale areolaire pigmentepitheeldystrofie","Centrale retinale pigmentepitheeldystrofie","MCDR1","NCMD","Progressieve foveale dystrofie","Retinale North-Carolina-maculadystrofie 1"],"definition":"Een niet-progressieve autosomaal dominante aandoening van macula, met congenitale of infantiele aanvang, en gekenmerkt door verlies van centraal zicht, accumulatie van drusen in macula, en atrofie van fotoreceptorcellen met een variabel fenotype bij onderzoek van macula."},"pt":{"name":"Distrofia macular de Carolina do Norte","synonyms":["Distrofia progressiva da fóvea","MCDR1","NCMD","CAPED","Distrofia CAPE","Distrofia epitelial do pigmento areolar central","Distrofia epitelial do pigmento retiniano central","Distrofia macular de Carolina do Norte, retiniana 1"]},"pl":{"name":"Dystofia plamki z Północnej Karoliny","synonyms":["CAPED","Centralna barwnikowa dystrofia nabłonka siatkówki","Centralna otoczkowa barwnikowa dystrofia nabłonkowa","Dystrofia CAPE","MCDR1","NCMD","North Carolina macular dystrophy, retinal 1","Postępująca dystrofia dołka siatkówki"]},"cs":{"name":"Makulární dystrofie Severní Karolína","synonyms":["CAPE dystrofie","CAPED","Centrální areolární pigmentová epiteliální dystrofie","Centrální retinální pigmentová epiteliální dystrofie","MCDR1","NCMD","Makulární dystrofie Severní Karolína, retinální 1","Progresivní foveální dystrofie"]},"uk":{"name":"Макулярна дистрофія Північної Кароліни","synonyms":["Дистрофія CAPE","CAPED","Центральна ареолярна пігментна дистрофія епітелію","Центральна пігментна дистрофія епітелію сітківки","MCDR1","NCMD","Макулодистрофія Північної Кароліни, сітківка 1","Прогресуюча фовеальна дистрофія"],"definition":"A non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination."},"zh":{"name":"北卡罗来纳黄斑营养不良","synonyms":["中央视网膜色素上皮营养不良"]},"tr":{"name":"Kuzey Carolina maküler distrofi","synonyms":["NCMD","CAPED","MCDR1","CAPE distrofisi","ilerleyici foveal distrofi","Kuzey Carolina maküler distrofi, retina 1","Santral areolar pigment epitel distrofisi","Santral retina pigment epitel distrofisi"]}},"xrefs":[{"source":"OMIM","code":"136550","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608850","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B75.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1931008217"},{"source":"MONDO","code":"0007630","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537835","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0730294","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9179","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":717311,"name":"Rare genetic isolated non-progressive predominantly chorioretinal disorder","classifications":[156]},{"orpha":717330,"name":"Rare genetic isolated non-progressive predominantly macular disorder","classifications":[156]},{"orpha":716296,"name":"Rare isolated non-progressive predominantly chorioretinal disorder","classifications":[189]},{"orpha":716419,"name":"Rare isolated non-progressive predominantly macular disorder","classifications":[189]}],"children":[],"genes":[{"symbol":"DHS6S1","name":"DNase1 hypersensitivity, chromosome 6, site 1","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26507665[PMID]","hgnc":null,"ensembl":null,"omim":"616842","loci":["6q16.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"21310494[PMID]_5100467[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21310494[PMID]_5100467[PMID]"}],"phenotypes":null}