{"orpha":16,"name":"Blue cone monochromatism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Atypical X-linked achromatopsia","Blue cone monochromacy","Color blindness, blue monocone monochromatic type","S cone monochromacy","S cone monochromatism","X-linked incomplete achromatopsia"],"definition":"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-16/","orphanet_url":"https://www.orpha.net/en/disease/detail/16","names":{"fr":{"name":"Monochromatisme à cônes bleus","synonyms":["Achromatopsie atypique liée à l'X","Achromatopsie incomplète liée à l'X","Monochromatie à cônes S","Monochromatie à cônes bleus","Monochromatisme à cônes S"],"definition":"Le monochromatisme à cônes bleus est une maladie récessive liée à l'X caractérisée par une discrimination des couleurs sévèrement perturbée, une faible acuité visuelle, un nystagmus et une photophobie, dus au dysfonctionnement des photorécepteurs coniques rouges (L) et verts (M). Elle représente une forme incomplète d'achromatopsie."},"de":{"name":"Blauzapfenmonochromasie","synonyms":["Achromatopsie, atypische X-chromosomale","Achromatopsie, inkomplette X-chromosomale","Farbenblindheit, blauer einzapfiger monochromatischer Typ","S-Zapfen-Monochromasie"],"definition":"Die Blauzapfen-Monochromasie (BCM) ist eine X-chromosomal-rezessiv vererbte Krankheit mit schwer gestörtem Farbsehen, geringer Sehschärfe, Nystagmus und Photophobie als Folge einer Funktionsstörung der Rot (L)- und Grün (M)- Zapfen. BCM ist eine unvollständige Form der Achromatopsie (siehe dort)."},"es":{"name":"Monocromatismo de conos azules","synonyms":["Acromatopsia atípica ligada al cromosoma X","Acromatopsia incompleta ligada al cromosoma X","Monocromacia de conos S","Monocromacia de conos azules","Monocromatismo de conos S"],"definition":"El monocromatismo de conos azules (MCA) es una enfermedad recesiva ligada al cromosoma X que se caracteriza por una incapacidad grave para discriminar los colores, baja agudeza visual, nistagmo y fotofobia a causa de la disfunción de los conos fotorreceptores del rojo (L) y el verde (M). El MCA es una forma incompleta de acromatopsia (ver este término)."},"it":{"name":"Monocromatismo dei coni blu","synonyms":["Acromatopsia atipica legata all'X","Acromatopsia incompleta legata all'X","Cecità ai colori, tipo monocromatico dei coni blu","Monocromasia dei coni S","Monocromasia dei coni blu","Monocromatismo dei coni S"],"definition":"Il monocromatismo dei coni blu (BCM) è una malattia recessiva legata all'X, caratterizzata da grave compromissione della discriminazione dei colori, bassa acuità visiva, nistagmo, e fotofobia, da disfunzione dei fotorecettori dei coni rossi (L) e verdi (M). Il BCM è una forma incompleta di acromatopsia (si veda questo termine)."},"nl":{"name":"Blauwekegeltjesmonochromatisme","synonyms":["Atypische X-gebonden achromatopsie","Blauwekegeltjesmonochromatie","Kleurenblindheid, blauw monoconisch monochromatisch type","S-kegeltjesmonochromatie","S-kegeltjesmonochromatisme","X-gebonden onvolledige achromatopsie"],"definition":"Blauwekegeltjesmonochromatisme (BCM) is een recessieve X-gebonden ziekte die wordt gekarakteriseerd door ernstig verstoord kleurenzicht, lage gezichtsscherpte, nystagmus en fotofobie, als gevolg van een slechte werking van de rood- (L) en groengevoelige (M) kegeltjes. BCM is als een onvolledige vorm van achromatopsie (zie deze term)."},"pt":{"name":"Monocromatismo de cones azuis","synonyms":["Acromatopsia incompleta ligada ao X","Distrofia dos cones, ligada ao X"]},"pl":{"name":"Monochromacja typu niebieskiego stożka","synonyms":["Atypowa achromatopsja sprzężona z chromosomem X","Monochromacja niebieskiego stożka","Monochromacja stożka S","Monochromatyzm stożka S","Niecałkowita achromatopsja sprzężona z chromosomem X","Ślepota barw typu monochromacji niebieskiego stożka"],"definition":"Monochromacja czopka niebieskiego jest chorobą sprzężoną z chromosomem X w sposób recesywny i charakteryzuje się zaburzeniami rozróżniania kolorów, obniżoną ostrością wzroku, oczopląsem i wrażliwością na światło, objawami, które powstały w wyniku dysfunkcji fotoreceptorów czopków czerwonych (L) i zielonych (M). Monochromacja czopka niebieskiego jest niekompletną formą achromatopsji."},"cs":{"name":"Modrý čípkový monochromatismus","synonyms":["Atypická X-vázaná achromatopsie","Barvoslepost, modrý monochromatický typ","Modrá čípková monochromacie"]},"uk":{"name":"Монохроматизм синього конусу","synonyms":["Атипова ахроматопсія, зчеплена з Х-хромосомою","Монохромність синього конуса","Кольорова сліпота, синій моноконус монохромного типу","Монохромність S-образного конуса","Монохроматизм S-конуса","Х-зчеплена неповна ахроматопсія"],"definition":"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)."},"zh":{"name":"蓝色锥体性全色盲","synonyms":["色盲，蓝色锥体性全色盲型"]},"tr":{"name":"Mavi koni monokromatizması","synonyms":["S koni monokromasi","S koni monokromatizması","Mavi koni monokromasi","Atipik X'e bağlı akromatopsi","X'e bağlı eksik akromatopsi","Renk körlüğü, mavi monokon monokromatik tip"]}},"xrefs":[{"source":"OMIM","code":"303700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H53.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"215497582"},{"source":"MONDO","code":"0010563","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536238","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339537","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"917","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98658,"name":"Color-vision disease","classifications":[156,189]},{"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":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15069569[PMID]","hgnc":"9936","ensembl":"ENSG00000102076","omim":"300822","loci":["Xq28"]},{"symbol":"OPN1MW","name":"opsin 1, medium wave sensitive","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15069569[PMID]","hgnc":"4206","ensembl":"ENSG00000268221","omim":"300821","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"ISBN:9780521004398[OTHER]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"ISBN:9780521004398[OTHER]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-03","source":"20301591[PMID]_30578487[PMID]","terms":[{"hpo":"HP:0007939","label":"Blue cone monochromacy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025549","label":"Eccentric visual fixation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030619","label":"Reduced OCT-measured foveal thickness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}