{"orpha":98973,"name":"Posterior polymorphous corneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PPCD","Posterior polymorphous dystrophy","Schlichting dystrophy"],"definition":"A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98973/","orphanet_url":"https://www.orpha.net/en/disease/detail/98973","names":{"fr":{"name":"Dystrophie cornéenne postérieure polymorphe","synonyms":["Dystrophie de Schlichting","Dystrophie postérieure polymorphe","PPCD"],"definition":"La dystrophie cornéenne postérieure polymorphe (PPCD) est un sous-type rare et peu sévère de dystrophie cornéenne postérieure caractérisé par de petits agrégats de vésicules bien visibles bordés par un voile gris au niveau de la membrane de Descemet, le plus souvent sans impact sur la vision."},"de":{"name":"Hornhautdystrophie, polymorphe posteriore","synonyms":["Hornhautdystrophie, hintere polymorphe","PPCD","Schlichting-Dystrophie"],"definition":"Die Hintere polymorphe Hornhautdystrophie (PPCD) ist ein seltener, milder Subtyp der Hinteren Hornhautdystrophie (s. dort) und gekennzeichnet durch kleine, als Bläschen erscheinende Aggregate auf der Ebene der Descemet-Membran, die von einem grauen Schleier umgeben sind und in der Regel den Visus nicht beeinträchtigen."},"es":{"name":"Distrofia corneal polimorfa posterior","definition":"Es un subtipo raro y leve de distrofia corneal posterior caracterizado por pequeñas agregaciones de vesículas aparentes delimitadas por una neblina gris a nivel de la membrana de Descemet, generalmente sin efecto en la visión."},"it":{"name":"Distrofia corneale polimorfa posteriore","synonyms":["Distrofia di Schlichting","Distrofia polimorfa posteriore","PPCD"],"definition":"La distrofia corneale polimorfa posteriore (PPCD) è un sottotipo lieve e raro della distrofia corneale posteriore (si veda questo termine), caratterizzata da piccoli aggregati di vescicole, circondate da un opacamento grigiastro a livello della membrana di Descemet, in genere senza compromissione della vista."},"nl":{"name":"Posterieure polymorfe corneadystrofie","synonyms":["Dystrofie van Schlichting","PPCD","Posterieure polymorfe dystrofie","Posterieure polymorfe hoornvliesdystrofie"],"definition":"Een zeldzaam, mild subtype van posterieure corneadystrofie, gekarakteriseerd door kleine aggregaten van schijnbare vesikels begrensd door een grijze waas ter hoogte van het membraan van Descemet, doorgaans zonder effect op het gezichtsvermogen."},"pt":{"name":"Distrofia corneana, polimorfa posterior"},"pl":{"name":"Polimorficzna tylna dystrofia rogówki","synonyms":["Dystrofia Schlichtinga","Polimorficzna tylna dystrofia","PPCD"],"definition":"Polimorficzna tylna dystrofia rogówki (PPCD) jest rzadkim łagodnym podtypem tylnej dystrofii rogówki, charakteryzującej się obecnością drobnych pozornych pęcherzyków, otoczonych szarym zamgleniem na poziomie błony Descemeta, generalnie bez wpływu na jakość widzenia."},"cs":{"name":"Zadní polymorfní dystrofie rohovky","synonyms":["PPCD","Zadní polymorfní dystrofie","Schlichtingova dystrofie"]},"uk":{"name":"Задня поліморфна дистрофія рогівки","synonyms":["Задня поліморфна дистрофія","PPCD","Дистрофія Шліхтінга"],"definition":"A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision."},"zh":{"name":"后部多形性角膜营养不良","synonyms":["后部多形性营养不良"],"definition":"该病是一种罕见的角膜后营养不良轻度亚型，特征是在后弹力膜被灰色雾状物包围的小囊泡聚集，通常对视力没有影响。"},"tr":{"name":"Posterior polimorföz kornea distrofisi","synonyms":["PPCD","Schlichting distrofisi","Posterior polimorf distrofisi"]}},"xrefs":[{"source":"OMIM","code":"122000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"148300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609140","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609141","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618031","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H18.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA11.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"935421185"},{"source":"MONDO","code":"0020364","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339284","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":98975,"name":"Congenital hereditary endothelial dystrophy type I","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98631,"name":"Congenital malformation of the eye with glaucoma as a major feature","classifications":[147,189]},{"orpha":525677,"name":"Genetic congenital malformation of the eye with glaucoma as a major feature","classifications":[156]},{"orpha":98627,"name":"Posterior corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"COL8A2","name":"collagen type VIII alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11689488[PMID]","hgnc":"2216","ensembl":"ENSG00000171812","omim":"120252","loci":["1p34.3"]},{"symbol":"GRHL2","name":"grainyhead like transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29499165[PMID]","hgnc":"2799","ensembl":"ENSG00000083307","omim":"608576","loci":["8q22.3"]},{"symbol":"OVOL2","name":"ovo like zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26749309[PMID]","hgnc":"15804","ensembl":"ENSG00000125850","omim":"616441","loci":["20p11.23"]},{"symbol":"VSX1","name":"visual system homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11978762[PMID]","hgnc":"12723","ensembl":"ENSG00000100987","omim":"605020","loci":["20p11.21"]},{"symbol":"ZEB1","name":"zinc finger E-box binding homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23807282[PMID]_25441224[PMID]","hgnc":"11642","ensembl":"ENSG00000148516","omim":"189909","loci":["10p11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Czech Republic","status":"Validated","source":"23049806[PMID]"},{"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":"2020-02-14","source":"28009792[PMID]_28613630[PMID]_27658681[PMID]","terms":[{"hpo":"HP:0011490","label":"Abnormal Descemet membrane morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011491","label":"Reduced number of corneal endothelial cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011483","label":"Anterior synechiae of the anterior chamber","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012040","label":"Corneal stromal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100692","label":"Increased corneal curvature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025358","label":"Uveal ectropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032122","label":"Very low visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200065","label":"Chorioretinal degeneration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009918","label":"Ectopia pupillae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very rare (<4-1%)","criteria":null}]}}