{"orpha":411641,"name":"Ocular cystinosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Adult-onset cystinosis","Non-nephropathic cystinosis"],"definition":"Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411641/","orphanet_url":"https://www.orpha.net/en/disease/detail/411641","names":{"fr":{"name":"Cystinose oculaire","synonyms":["Cystinose de l'adulte","Cystinose non néphropathique"],"definition":"Forme adulte bénigne de cystinose, une maladie métabolique caractérisée par une accumulation de cristaux de cystine dans la cornée et la conjonctive, responsable d'un larmoiement et d'une photophobie, et associée à aucune autre manifestation."},"de":{"name":"Cystinose, okuläre"},"es":{"name":"Cistinosis ocular","synonyms":["Cistinosis de inicio en el adulto","Cistinosis no nefropática"],"definition":"La cistinosis ocular es la forma benigna o del adulto de la cistinosis (véase este término), una enfermedad metabólica que se caracteriza por la acumulación de cristales de cistina en la córnea y la conjuntiva y que causa lagrimeo y fotofobia y no lleva asociadas manifestaciones adicionales."},"it":{"name":"Cistinosi oculare","synonyms":["Cistinosi a esordio nell'età adulta","Cistinosi non nefropatica"],"definition":"La cistinosi oculare è la forma adulta e benigna della cistinosi (si veda questo termine), una malattia metabolica benigna caratterizzata dall'accumulo di cristalli di cistina nella cornea e nella congiuntiva, che provoca lacrimazione e fotofobia, in assenza di altri segni clinici."},"nl":{"name":"Oculaire cystinose","synonyms":["Cystinose met volwassen aanvang","Niet-nefropathische cystinose"],"definition":"Oculaire cystinose is de goedaardige volwassen vorm van cystinose (zie deze term), een stofwisselingsziekte die wordt gekarakteriseerd door een ophoping van cystinekristallen in het hoornvlies (cornea) en het bindvlies (conjunctiva), met tranen en fotofobie tot gevolg. Er is geen associatie met andere bijkomende manifestaties."},"pt":{"name":"Cistinose ocular"},"pl":{"name":"Cystynoza oczna","synonyms":["Cystynoza nienefropatyczna","Cystynoza o początku w wieku dorosłym"]},"cs":{"name":"Okulární cystinóza","synonyms":["Non-nefropatická cystinóza","Cystinóza dospělých"]},"uk":{"name":"Очний цистиноз","synonyms":["Цистиноз у дорослих","Ненефропатичний цистиноз"],"definition":"Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations."},"zh":{"name":"眼胱氨酸贮积症","synonyms":["非肾病性胱氨酸病"],"definition":"眼型胱氨酸贮积症病是一种良性的成人胱氨酸贮积症（见本术语），一种代谢性疾病，其特征在于角膜和结膜中的胱氨酸晶体积聚，可导致流泪和畏光，无其他临床表现。"},"tr":{"name":"Oküler sistinoz","synonyms":["Erişkin başlangıçlı sistinoz","Nefropatik olmayan sistinoz"]}},"xrefs":[{"source":"OMIM","code":"219750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009064","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535765","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931013","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":213,"name":"Cystinosis","classifications":[147,150,156,188,193,199]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CTNS","name":"cystinosin, lysosomal cystine transporter","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301574[PMID]","hgnc":"2518","ensembl":"ENSG00000040531","omim":"606272","loci":["17p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-02","source":"25345100[PMID]_10625078[PMID]_25345100[PMID]","terms":[{"hpo":"HP:0000531","label":"Corneal crystals","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032639","label":"Elevated leukocyte cystine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}