{"orpha":90001,"name":"X-linked cone dysfunction syndrome with myopia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bornholm eye disease"],"definition":"X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90001/","orphanet_url":"https://www.orpha.net/en/disease/detail/90001","names":{"fr":{"name":"Syndrome d'anomalie des cônes avec myopie lié à l'X","synonyms":["Maladie des yeux type Bornholm"],"definition":"Le syndrome d'anomalie des cônes avec myopie lié à l'X est caractérisé par une myopie modérée à sévère associée à un astigmatisme et une deutéranopie. Moins de 10 familles ont été décrites à ce jour. La transmission est récessive liée à l'X et le locus a été cartographié en Xq28."},"de":{"name":"Zapfendystrophie-Myopie-Syndrom, X-chromosomales","definition":"Das X-chromosomale Zapfendystrophie-Myopie-Syndrom ist charakterisiert durch durch moderate bis hochgradige Myopie, Astigmatismus und Deuteranopie."},"es":{"name":"Síndrome de disfunción de los conos con miopía","synonyms":["Enfermedad ocular de Bornholm"],"definition":"Es un síndrome caracterizado por una miopía de moderada a alta asociada a astigmatismo y deuteranopía. Hasta la fecha, se ha descrito en menos de 10 familias. La transmisión es recesiva ligada al cromosoma X y el locus se ha asignado a Xq28."},"it":{"name":"Sindrome da disfunzione dei coni con miopia, legata all'X","synonyms":["Malattia oculare, tipo Bornholm"]},"nl":{"name":"X-gebonden kegeldisfunctiesyndroom met myopie","synonyms":["Bornholm-oogziekte"],"definition":"Een syndroom, gekenmerkt door matige tot hoge myopie geassocieerd met astigmatisme en deuteranopie. Tot op heden werden minder dan 10 families beschreven. Transmissie is X-gebonden recessief, en de locus werd gelokaliseerd op Xq28."},"pt":{"name":"Síndrome de disfunção dos cones com miopia ligada ao X"},"pl":{"name":"Zespół dysfunkcji czopków sprzężony z chromosomem X z miopią","synonyms":["Choroba oczu Bornholma"]},"cs":{"name":"X-vázaný syndrom dysfunkce čípků s myopií","synonyms":["Bornholmská nemoc oka"]},"uk":{"name":"Х-зчеплений синдром дисфункції колбочок при короткозорості","synonyms":["Хвороба очей Борнхольма"],"definition":"X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28."},"zh":{"name":"X-连锁视锥细胞功能障碍综合征伴近视","synonyms":["博恩霍姆眼病"]},"tr":{"name":"Miyopi ile seyreden X'e bağlı koni disfonksiyon sendromu","synonyms":["Bornholm göz hastalığı"]}},"xrefs":[{"source":"OMIM","code":"300843","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H53.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"290885874"},{"source":"MONDO","code":"0010446","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564092","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3159311","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716367,"name":"Rare isolated non-progressive generalized retinal disorder","classifications":[156,189]}],"children":[],"genes":[{"symbol":"OPN1LW","name":"opsin 1, long wave sensitive","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23322568[PMID]","hgnc":"9936","ensembl":"ENSG00000102076","omim":"300822","loci":["Xq28"]},{"symbol":"OPN1MW","name":"opsin 1, medium wave sensitive","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23322568[PMID]","hgnc":"4206","ensembl":"ENSG00000268221","omim":"300821","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","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}