{"orpha":98957,"name":"Gelatinous drop-like corneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GDCD","Primary familial amyloidosis of the cornea","Subepithelial amyloidosis of the cornea"],"definition":"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98957/","orphanet_url":"https://www.orpha.net/en/disease/detail/98957","names":{"fr":{"name":"Dystrophie cornéenne gélatineuse en goutte","synonyms":["Amylose primitive familiale de la cornée","Amylose sous-épithéliale de la cornée","Dystrophie amyloîde gélatineuse","GDCD"],"definition":"La dystrophie cornéenne gélatineuse en goutte (GDCD) est une forme superficielle de dystrophie cornéenne caractérisée par un grand nombre d'importants nodules gélatineux d'un blanc laiteux sous l'épithélium cornéen, et une détérioration notable de la vision."},"de":{"name":"Hornhautdystrophie, gelatinöse tropfenförmige","synonyms":["Amyloidose der Hornhaut, familiäre primäre","Amyloidose der Hornhaut, subepitheliale","GDLD"],"definition":"Die Gelatinös-tropfenförmige Hornhautdystrophie (GDLD) ist eine Form der oberflächlichen Hornhautdystrophie und gekennzeichnet durch multiple prominente milchweiße gelatinöse Knötchen unter dem Hornhautepithel. Der Visus ist erheblich eingeschränkt."},"es":{"name":"Distrofia corneal gelatinosa en gotas","synonyms":["Amiloidosis familiar primaria de la córnea","Amiloidosis subepitelial de la córnea","GDCD"],"definition":"La distrofia corneal gelatinosa en gotas (GDCD) es una forma de distrofia corneal superficial caracterizada por unos nódulos gelatinosos, múltiples, prominentes y de color blanco lechoso bajo el epitelio corneal, y un marcado deterioro visual."},"it":{"name":"Distrofia corneale gelatinosa a goccia","synonyms":["Amiloidosi familiare primitiva della cornea","Amiloidosi subepiteliale della cornea","GDCD"],"definition":"La distrofia corneale gelatinosa a goccia (GDCD) è una forma di distrofia superficiale della cornea, caratterizzata da noduli gelatinosi prominenti multipli bianco-latte al di sotto dell'epitelio corneale e da marcato deficit visivo."},"nl":{"name":"Gelatineuze druppelachtige corneadystrofie","synonyms":["GDCD","Gelatineuze druppelachtige hoornvliesdystrofie","Primaire familiale amyloïdose van het hoornvlies","Subepitheliale amyloïdose van het hoornvlies"],"definition":"Gelatineuze druppelachtige corneadystrofie (GDCD) is een zeer zeldzame vorm van oppervlakkige corneadystrofie gekenmerkt door multipele prominente melkachtige gelatineachtige knobbeltjes onder het cornea-epitheel, en een opmerkelijke visuele achteruitgang."},"pt":{"name":"Distrofia corneana, gelatinosa em gota"},"pl":{"name":"Dystrofia rogówki przypominająca kroplę żelatyny","synonyms":["GDCD","Pierwotna rodzinna amyloidoza rogówki","Podnabłonkowa amyloidoza rogówki"],"definition":"Dystrofia rogówki przypominająca kroplę żelatyny (GDCD) jest postacią dystrofii rogówki powierzchownej, charakteryzującą się wieloma wyraźnymi, mlecznobiałymi galerowatymi bąbelkami pod nabłonkiem rogówki oraz wyraźnym zaburzeniem wzroku."},"cs":{"name":"Želatinózní kapkovitá korneální dystrofie","synonyms":["GDCD","Primární familiární amyloidóza rohovky","Subepiteliální amyloidóza rohovky"]},"uk":{"name":"Желатинозна краплеподібна дистрофія рогівки","synonyms":["GDCD","Первинний сімейний амілоїдоз рогівки","Субепітеліальний амілоїдоз рогівки"],"definition":"Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment."},"zh":{"name":"凝胶状滴状角膜变性","synonyms":["原发性家族性角膜淀粉样变性"],"definition":"凝胶样滴状角膜营养不良(GDCD)是一种浅表性角膜营养不良，其特征是角膜上皮下有多个明显的乳白色凝胶结节，并有明显的视力障碍。"},"tr":{"name":"Jelatinöz damla benzeri kornea distrofisi","synonyms":["GDCD","Korneanın subepitelyal amiloidozu","Korneanın primer ailesel amiloidozu"]}},"xrefs":[{"source":"OMIM","code":"204870","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":"index","validated":true,"icd11_uri":"1062815669"},{"source":"MONDO","code":"0008777","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535480","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339273","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9647","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":522562,"name":"Genetic superficial corneal dystrophy","classifications":[156]},{"orpha":98625,"name":"Superficial corneal dystrophy","classifications":[189]}],"children":[],"genes":[{"symbol":"TACSTD2","name":"tumor associated calcium signal transducer 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20454699[PMID]","hgnc":"11530","ensembl":"ENSG00000184292","omim":"137290","loci":["1p32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"area":"Japan","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-03-30","source":"27227392[PMID]_27913443[PMID]_32659838[PMID]_19236704[PMID]_25455555[PMID]_15183793[PMID]","terms":[{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010637","label":"Conjunctival amyloidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034804","label":"Corneal foreign body sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011496","label":"Corneal neovascularization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","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:0011493","label":"Central opacification of the cornea","frequency":"Occasional (29-5%)","criteria":null}]}}