{"orpha":281201,"name":"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["KLICK syndrome"],"definition":"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-281201/","orphanet_url":"https://www.orpha.net/en/disease/detail/281201","names":{"fr":{"name":"Syndrome de kératose linéaire-ichtyose congénitale-kératodermie sclérosante","synonyms":["Syndrome KLICK"],"definition":"Le syndrome de kératose linéaire-ichtyose congénitale-kératodermie sclérosante est un trouble épidermique héréditaire caractérisé par une kératodermie palmoplantaire, des papules hyperkératotiques linéaires sur le côté fléchisseur des grosses articulations (distribution sous forme de corde autour des poignets, et au niveau des plis du coude et du poplité), des plaques hyperkératotiques (sur le cou, au niveau des aisselles, des coudes, des poignets et des genoux), une légère desquamation ichtyosiforme, et des constrictions sclérosantes autour des doigts qui présentent des déformations de flexion."},"de":{"name":"Keratosis linearis-Ichthyosis congenita-sklerosierendes Keratoderm-Syndrom","synonyms":["KLICK-Syndrom"],"definition":"Eine vererbte Epidermiserkrankung, die gekennzeichnet ist durch palmoplantare Keratodermie, lineare hyperkeratotische Papeln auf der Beugeseite großer Gelenke (schnurartige Verteilung um Handgelenke, in den antecubitalen und poplitealen Falten), hyperkeratotische Plaques (am Hals, in den Achselhöhlen, an den Ellenbogen, Handgelenken und Knien), milde ichthyosiforme Schuppung und sklerotische Einschnürungen um die Finger, die zu Beugeverformungen führen."},"es":{"name":"Síndrome de queratosis linear-ictiosis congénita-queratodermia esclerosante","synonyms":["Síndrome KLICK"],"definition":"El síndrome de queratosis linear-ictiosis congénita-queratodermia esclerosante es un trastorno epidérmico hereditario caracterizado por queratodermia palmoplantar, pápulas hiperqueratósicas de distribución lineal en las zonas flexurales de las grandes articulaciones (distribución similar a un cordón alrededor de las muñecas, en las fosas antecubitales y poplíteas), placas hiperqueratósicas (en el cuello, axilas, codos, muñecas y rodillas), leve descamación ictiosiforme y constricciones escleróticas alrededor de los dedos de las manos con deformidades flexurales."},"it":{"name":"Cheratosi lineare - ittiosi congenita - cheratoderma sclerosante","synonyms":["Sindrome KLICK"],"definition":"La sindrome da cheratosi lineare-ittiosi congenita-cheratoderma sclerosante è una malattia ereditaria dell'epidermide caratterizzata da cheratoderma palmo-plantare, papule ipercheratosiche lineari sul lato flessorio delle grandi articolazioni (distribuite a cordoncino attorno ai polsi, nelle pieghe antecubitali e poplitee), placche ipercheratosiche (sul collo, sulle ascelle, sui gomiti, sui polsi e sulle ginocchia), lieve desquamazione ittiosiforme e costrizioni sclerotiche attorno alle dita, associate a deformità in flessione."},"nl":{"name":"Keratosis linearis - ichthyosis congenita - scleroserende keratodermie-syndroom","synonyms":["KLICK-syndroom"],"definition":"Keratosis linearis - ichthyosis congenita - scleroserende keratodermie-syndroom is een overgeërfde huidziekte en wordt gekarakteriseerd door palmoplantaire keratodermie, lineaire hyperkeratotische papels op de buigzijde van grote gewrichten (strengvormige verdeling rond de polsen, in de elleboogkuilen en knieholtes), hyperkeratotische plaques (aan de hals/nek, oksels, ellebogen, polsen en knieën), milde ichthyosiforme schilfering, en sclerotische vernauwingen rond vingers die flexiemisvorming vertonen."},"pt":{"name":"Síndrome de queratose linear-ictiose congénita-queratodermia esclerosante","synonyms":["Síndrome KLICK"]},"pl":{"name":"Zespół rogowacenie linijne-rybia łuska wrodzona-rogowiec twardzinowy","synonyms":["Zespół KLICK"]},"cs":{"name":"Syndrom zahrnující keratosis linearis, ichtyosis congenita a sklerozující keratodermu","synonyms":["KLICK syndrom"]},"uk":{"name":"Синдром лінійного кератозу-вродженого іхтіозу- склерозуючої кератодермії","synonyms":["Синдром KLICK"],"definition":"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities."},"zh":{"name":"线状角化症-先天性鱼鳞病-硬化性角化皮病综合征","synonyms":["KLICK综合征"],"definition":"线性角化症伴先天性鳞皮症和硬化性角化症是一种遗传性表皮病，其特征是掌跖角化病、大关节曲侧线状角化过度性丘疹（在腕部周围、肘部和腘窝褶皱处呈线状分布）、角化过度性丘疹（颈部、腋窝、肘部、腕部和膝盖），轻度鱼鳞样鳞屑和手指周围硬化性挛缩，呈现弯曲畸形。"},"tr":{"name":"Keratoz linearis-iktiyoz konjenita-sklerozan keratoderma sendromu","synonyms":["KLICK sendromu"]}},"xrefs":[{"source":"OMIM","code":"601952","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"790497320"},{"source":"MONDO","code":"0011169","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566600","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866029","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":307773,"name":"Autosomal dominant diffuse mutilating palmoplantar keratoderma","classifications":[156,187]},{"orpha":281082,"name":"Inherited non-syndromic ichthyosis","classifications":[156,187]}],"children":[],"genes":[{"symbol":"POMP","name":"proteasome maturation protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20226437[PMID]","hgnc":"20330","ensembl":"ENSG00000132963","omim":"613386","loci":["13q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null}]}}