{"orpha":98963,"name":"Granular corneal dystrophy type II","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Avellino corneal dystrophy","GCD2","GCDII","Granular corneal dystrophy type 2","Granular-lattice corneal dystrophy"],"definition":"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98963/","orphanet_url":"https://www.orpha.net/en/disease/detail/98963","names":{"fr":{"name":"Dystrophie cornéenne granulaire type II","synonyms":["Dystrophie cornéenne combinée granulaire-réseau","Dystrophie cornéenne d'Avellino","Dystrophie cornéenne granulaire type 2","GCD2","GCDII"],"definition":"La dystrophie cornéenne granulaire type II (GCDII) est une forme rare de dystrophie cornéenne stromale caractérisée par des dépôts aux contours irréguliers et bien démarqués sur le stroma cornéen central superficiel, et avec détérioration progressive de la vision."},"de":{"name":"Granuläre Hornhautdystrophie Typ II","synonyms":["Avellino-Dystrophie","GCD2","GCDII","Hornhautdystrophie Typ Avellino","Hornhautdystrophie, granulär-gittrige"],"definition":"Die granuläre Hornhautdystrophie Typ II (GCDII) ist eine seltene Form der Stroma-Hornhautdystrophie (s. dort) und gekennzeichnet durch unregelmäßig geformte, gut abgegrenzte granuläre Ablagerungen im oberflächlichen zentralen Hornhautstroma und fortschreitende Verschlechterung des Visus."},"es":{"name":"Distrofia corneal granular tipo 2","synonyms":["Distrofia corneal granular tipo II"],"definition":"La distrofia corneal granular tipo II (GCDII) es una forma rara de distrofia corneal estromal (consulte este término) caracterizada por depósitos granulares bien delimitados y de formas irregulares en el estroma corneal central superficial, y discapacidad visual progresiva."},"it":{"name":"Distrofia corneale granulare, tipo II","synonyms":["Distrofia corneale di Avellino","Distrofia corneale granulare, tipo 2","Distrofia corneale granulare-reticolare","GCD2","GCDII"],"definition":"La distrofia corneale granulare tipo II (GCDII) è una forma rara di distrofia corneale stromale (si veda questo termine), caratterizzata da depositi granulari di forma irregolare, a contorni demarcati, nella porzione superficiale e centrale della cornea, che comportano un deficit visivo progressivo."},"nl":{"name":"Granulaire corneadystrofie type II","synonyms":["Corneadystrofie van Avellino","GCD2","GCDII","Granulaire corneadystrofie type 2","Granulaire-lattice corneadystrofie"],"definition":"Type II granulaire corneadystrofie (GCDII) is een zeldzame vorm van stromale corneadystrofie (zie deze term) gekenmerkt door onregelmatig gevormde, goed afgelijnde granulaire afzettingen in het oppervlakkige centrale corneastroma en progressieve visuele achteruitgang."},"pt":{"name":"Distrofia corneana, tipo Avellino"},"pl":{"name":"Ziarnista dystrofia rogówki typu II","synonyms":["Dystrofia rogówki Avellino","GCD2","GCDII","Ziarnista dystrofia rogówki typu 2","Ziarnisto-siateczkowata dystrofia rogówki"]},"cs":{"name":"Granulární dystrofie rohovky, typ II","synonyms":["Dystrofie rohovky, typ Avellino","GCD2","GCDII","Granulární dystrofie rohovky, typ 2","Granulárně mřížková dystrofie"]},"uk":{"name":"Зерниста дистрофія рогівки, тип II","synonyms":["Дистрофія рогівки Авелліно","GCD2","GCDII","Зерниста дистрофія рогівки 2 типу","Зернисто-гратчаста дистрофія рогівки"],"definition":"Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment."},"zh":{"name":"颗粒状角膜营养不良II型","synonyms":["颗粒-晶格状角膜营养不良"],"definition":"II型颗粒性角膜营养不良(GCDII)是一种罕见的间质性角膜营养不良(见该术语)，其特征是中央角膜浅层有不规则形状、边界清楚的颗粒状沉积，并伴有进行性视力障碍。"},"tr":{"name":"Granüler korneal distrofi tip II","synonyms":["GCD2","GCDII","Avellino kornea distrofisi","Granüler korneal distrofi tip 2","Granüler-latis kornea distrofisi"]}},"xrefs":[{"source":"OMIM","code":"607541","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H18.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A70.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011855","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535474","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275685","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9278","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98626,"name":"Stromal corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"TGFBI","name":"transforming growth factor beta induced","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22815629[PMID]","hgnc":"11771","ensembl":"ENSG00000120708","omim":"601692","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"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":"2021-10-21","source":"33344199[PMID]_32667742[PMID]_28583694[PMID]_30805211[PMID]_32952948[PMID]","terms":[{"hpo":"HP:0011493","label":"Central opacification of the cornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000531","label":"Corneal crystals","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007802","label":"Granular corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008039","label":"Subepithelial corneal opacities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000495","label":"Recurrent corneal erosions","frequency":"Occasional (29-5%)","criteria":null}]}}