{"orpha":352662,"name":"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare opthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352662/","orphanet_url":"https://www.orpha.net/en/disease/detail/352662","names":{"fr":{"name":"Syndrome de dyskératose intraépithéliale cornéenne-kératodermie palmoplantaire-dyskératose laryngée","definition":"Dystrophie cornéenne génétique rare caractérisée par une opacification de la cornée et une dyskératose (pouvant entraîner une déficience visuelle), associée à des caractéristiques systémiques telles qu'une hyperkératose palmoplantaire, une dyskératose laryngée, des cicatrices hyperkératosiques prurigineuses, une rhinite chronique, une dyshidrose et/ou un épaississement des ongles."},"de":{"name":"Intraepitheliale korneale Dyskeratose-palmoplantare Hyperkeratose-laryngeale Dyskeratose-Syndrom"},"es":{"name":"Síndrome de disqueratosis intraepitelial corneal-hiperqueratosis palmoplantar-disqueratosis laríngea","definition":"El síndrome de disqueratosis intraepitelial corneal - hiperqueratosis palmoplantar - disqueratosis laríngea es un trastorno de distrofia corneal, genético y poco frecuente, caracterizado por opacificación corneal y disqueratosis (que pueden causar discapacidad visual), asociado a características sistémicas que incluyen hiperqueratosis palmoplantar, disqueratosis laríngea, cicatrices hiperqueratósicas pruríticas, rinitis crónica, dishidrosis y/o engrosamiento ungueal."},"it":{"name":"Sindrome da discheratosi intraepiteliale corneale, ipercheratosi palmoplantare e discheratosi laringea","definition":"La sindrome che associa la discheratosi intraepiteliale corneale, l'ipercheratosi palmoplantare e la discheratosi laringea è una distrofia genetica rara della cornea, caratterizzata da opacità e discheratosi della cornea (che possono compromettere la vista), associate a segni clinici sistemici, che comprendono l'ipercheratosi palmoplantare, la discheratosi laringea, le cicatrici ipercheratosiche pruriginose, la rinite cronica, la disidrosi e/o l'ispessimento delle unghie."},"nl":{"name":"Corneale intra-epitheliale dyskeratose - palmoplantaire hyperkeratose - laryngeale dyskeratose-syndroom","definition":"Corneale intra-epitheliale dyskeratose - palmoplantaire hyperkeratose - laryngeale dyskeratose-syndroom is een zeldzame, genetische corneadystrofie die gekarakteriseerd wordt door vertroebeling en dyskeratose van het hoornvlies (mogelijk met visuele beperking tot gevolg), geassocieerd met systemische kenmerken waaronder palmoplantaire hyperkeratose, laryngeale dyskeratose, pruritische hyperkeratotische littekens, chronische rinitis, dyshidrose en/of verdikking van de nagels."},"pt":{"name":"Disqueratose intraepitelial da córnea com hiperqueratose palmoplantar e disqueratose laríngea"},"pl":{"name":"Zespół dyzkeratozy wewnątrznabłonkowej rogówki z hiperkeratozą dłoniowo-podeszwową i dyzkeratozą gardła"},"cs":{"name":"Syndrom zahrnující intraepiteliální dyskeratózu rohovky, palmoplantární hyperkeratózu a dyskeratózu hrtanu"},"uk":{"name":"Синдром інтраепітеліального дискератозу рогівки-долонно-підошовного гіперкератозу- дискератозу гортані","definition":"A rare opthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening."},"zh":{"name":"角膜上皮化-掌跖角化过度-喉角化不良综合征","definition":"角膜上皮角化不良-角化掌跖-喉角化不良综合征是一种罕见的遗传性角膜营养不良综合征，以角膜混浊和角化不良(可能导致视力障碍)为特征，与多种系统性特征有关，包括掌跖过度角化、喉角化不良、瘙痒性角化过度瘢痕、慢性鼻炎、出汗障碍和/或指甲增厚。"},"tr":{"name":"Korneal intraepitelyal diskeratoz-palmoplantar hiperkeratoz-laringeal diskeratoz sendromu"}},"xrefs":[{"source":"OMIM","code":"615225","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B6Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014089","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751001","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98352,"name":"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":522562,"name":"Genetic superficial corneal dystrophy","classifications":[156]},{"orpha":98625,"name":"Superficial corneal dystrophy","classifications":[189]}],"children":[],"genes":[{"symbol":"NLRP1","name":"NLR family pyrin domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23349227[PMID]","hgnc":"14374","ensembl":"ENSG00000091592","omim":"606636","loci":["17p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"23349227[PMID]_27662089[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET__27662089[PMID]"}],"phenotypes":null}