{"orpha":98962,"name":"Granular corneal dystrophy type I","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Classic GCD","Classic granular corneal dystrophy","Corneal dystrophy Groenouw type I","GCD1","GCDI","Granular corneal dystrophy type 1"],"definition":"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98962/","orphanet_url":"https://www.orpha.net/en/disease/detail/98962","names":{"fr":{"name":"Dystrophie cornéenne granulaire type I","synonyms":["Dystrophie cornéenne de Groenouw type I","Dystrophie cornéenne granulaire classique","Dystrophie cornéenne granulaire type 1","GCD1","GCDI"],"definition":"La dystrophie cornéenne granulaire type I (GCDI) est une forme rare de dystrophie cornéenne stromale caractérisée par de multiples petits dépôts sur le stroma cornéen central superficiel, et une détérioration progressive de la vision qui peut être grave dans certains cas."},"de":{"name":"Granuläre Hornhautdystrophie Typ I","synonyms":["GCD1","Granuläre Hornhautdystrophie, klassische","Groenouw-Hornhautdystrophie Typ I","Hornhautdystrophie, granuläre, Typ 1"],"definition":"Die Granuläre Hornhautdystrophie Typ I (GCDI) ist eine seltene Form der Stroma-Hornhautdystrophien (s. dort) und gekennzeichnet durch multiple kleine Ablagerungen im oberflächlichen zentralen Hornhautstroma und durch progrediente, manchmal schwere Beeinträchtigung des Visus."},"es":{"name":"Distrofia corneal granular tipo I","synonyms":["Distrofia corneal de Groenouw tipo I","Distrofia corneal granular clásica","Distrofia corneal granular tipo 1","GCD clásica","GCD1","GCDI"],"definition":"La distrofia corneal granular tipo I (GCDI) es una forma rara de distrofia corneal estromal (consulte este término) caracterizada por pequeños depósitos múltiples en el estroma corneal central superficial, y por una discapacidad visual progresiva que en ocasiones puede llegar a ser grave."},"it":{"name":"Distrofia corneale granulare, tipo I","synonyms":["Distrofia corneale di Groenouw, tipo I","Distrofia corneale granulare classica","Distrofia corneale granulare, tipo 1","GCD classica","GCD1","GCDI"],"definition":"La distrofia corneale granulare tipo I (GCDI) è una forma rara di distrofia corneale stromale (si veda questo termine), caratterizzata da piccoli depositi multipli nella porzione superficiale centrale dello stroma corneale che esita in deficit visivo progressivo, occasionalmente grave."},"nl":{"name":"Granulaire corneadystrofie type I","synonyms":["Corneadystrofie, Groenouw-type I","GCD1","GCDI","Granulaire corneadystrofie type 1","Klassieke GCD","Klassieke granulaire corneadystrofie"],"definition":"Type I granulaire corneadystrofie (GCDI) is een zeldzame vorm van stromale corneadystrofie (zie deze term) gekenmerkt door meerdere kleine afzettingen in het oppervlakkige centrale corneastroma en progressieve visuele achteruitgang, die soms ernstig kan zijn."},"pt":{"name":"Distrofia corneana, tipo Groenouw"},"pl":{"name":"Ziarnista dystrofia rogówki typu I","synonyms":["Dystrofia rogówki Groenouwa typu I","GCD1","GCDI","Klasyczna GCD","Klasyczna ziarnista dystrofia rogówki","Ziarnista dystrofia rogówki typu 1"]},"cs":{"name":"Granulární dystrofie rohovky, typ I","synonyms":["Klasická GCD","Klasická granulární dystrofie rohovky","GCD1","GCDI","Granulární dystrofie rohovky, typ 1","Dystrofie rohovky, Groenouwův typ I"]},"uk":{"name":"Зерниста дистрофія рогівки, тип I","synonyms":["Класичний ГДР","Класична гранулярна дистрофія рогівки","Дистрофія рогівки Гренуя I типу","GCD1","GCDI","Зерниста дистрофія рогівки, тип 1"],"definition":"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe."},"zh":{"name":"颗粒状角膜营养不良I型","synonyms":["典型颗粒状角膜营养不良"],"definition":"I型颗粒性角膜营养不良(GCDI)是一种罕见的间质性角膜营养不良(见该词条)，其特征是中央角膜浅层有多个小沉积物，并伴有进行性视力障碍，有时甚至很严重。"},"tr":{"name":"Granüler korneal distrofi tip I","synonyms":["GCD1","GCDI","Klasik GCD","Korneal distrofi Groenouw tip I","Granüler kornea distrofisi tip 1","Klasik granüler kornea distrofisi"]}},"xrefs":[{"source":"OMIM","code":"121900","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":"0007377","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537304","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1641846","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9677","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":"21264234[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":"32366062[PMID]_23991378[PMID]_31322463[PMID]","terms":[{"hpo":"HP:0007881","label":"Central corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000531","label":"Corneal crystals","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011493","label":"Central opacification of the cornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000495","label":"Recurrent corneal erosions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011495","label":"Abnormal corneal epithelium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008039","label":"Subepithelial corneal opacities","frequency":"Occasional (29-5%)","criteria":null}]}}