{"orpha":218,"name":"Darier disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Darier-White disease","Keratosis follicularis"],"definition":"A rare, genetic keratinization disorder which is classically characterized by keratotic papules, acral pits, and acral wart-like lesions that can be associated with a trigger, and may occur anywhere on the body (including mucosal surfaces). Extracutaneous manifestations may include, nail anomalies, blepharitis, dry eye, neuropsychiatric illness and, recurrent parotid gland obstruction and xerostomia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-218/","orphanet_url":"https://www.orpha.net/en/disease/detail/218","names":{"fr":{"name":"Maladie de Darier","synonyms":["Dyskératose folliculaire","Maladie de Darier-White"],"definition":"Maladie rare de la kératinisation d'origine génétique caractérisée habituellement par des papules kératosiques, des fosses acrales et des lésions verruqueuses acrales qui peuvent être associées à un facteur déclenchant et affecter toute partie du corps (y compris les muqueuses). Les manifestations extracutanées peuvent inclure des onychopathies, une blépharite, une sécheresse oculaire, une maladie neuropsychiatrique, une obstruction récurrente de la glande parotide et une xérostomie."},"de":{"name":"Darier-Krankheit","synonyms":["Darier-White-Krankheit","Dyskeratosis follicularis","Dyskeratosis follicularis Darier","Keratosis vegetans"],"definition":"Eine genetisch bedingte Keratinisierungsstörung, die typischerweise durch keratotische Papeln, akrale Grübchen und akrale warzenähnliche Läsionen gekennzeichnet ist, die mit einem bestimmten Auslöser in Verbindung gebracht werden können und überall am Körper (einschließlich Schleimhautoberflächen) auftreten können. Extrakutane Manifestationen können Nagelanomalien, Blepharitis, trockene Augen, neuropsychiatrische Störungen, rezidivierende Obstruktion der Ohrspeicheldrüse und Xerostomie umfassen."},"es":{"name":"Enfermedad de Darier","synonyms":["Enfermedad de Darier-White","Queratosis folicular"],"definition":"Es un trastorno poco frecuente de la queratinización de origen genético que se caracteriza clásicamente por pápulas queratósicas, depresiones puntiformes acrales y lesiones similares a verrugas acrales que pueden asociarse con un desencadenante y que pueden desarrollarse en cualquier localización anatómica (incluyendo las superficies mucosas). Las manifestaciones extracutáneas pueden incluir anomalías ungueales, blefaritis, ojo seco, trastornos neuropsiquiátricos y obstrucción recurrente de la glándula parótida y xerostomía."},"it":{"name":"Malattia di Darier","synonyms":["Cheratosi follicolare","Malattia di Darier-White"]},"nl":{"name":"Ziekte van Darier","synonyms":["Keratosis follicularis","Ziekte van Darier-White"],"definition":"Een zeldzame, genetische aandoening van keratinisatie, typisch gekenmerkt door keratotische papels, acrale putjes, en acrale wratachtige laesies die geassocieerd kunnen zijn met een uitlokkende factor, en die eender waar op het lichaam kunnen optreden (inclusief mucosale oppervlakken). Mogelijke extracutane manifestaties zijn onder meer nagelanomalieën, blefaritis, droog oog, neuropsychiatrische ziekte en recidiverende obstructie van oorspeekselklier en xerostomie."},"pt":{"name":"Doença de Darier","synonyms":["Queratose folicular"],"definition":"Doença genética rara de queratinização que é classicamente caracterizada por pápulas queratóticas, fossetas acrais e lesões semelhantes a verrugas acrais que podem estar associadas a um fenómeno de gatilho e podem ocorrer em qualquer parte do corpo (incluindo superfícies mucosas). As manifestações extracutâneas podem incluir anomalias ungueais, blefarite, olho seco, doença neuropsiquiátrica e obstrução recorrente da glândula parótida e xerostomia."},"pl":{"name":"Choroba Dariera","synonyms":["Choroba Dariera i White","Rogowacenie pęcherzykowe"],"definition":"Rzadkie, genetycznie uwarunkowane zaburzenie rogowacenia, które klasycznie charakteryzuje się występowaniem grudek rogowaciejących oraz dołków i zmian przypominających brodawki na kończynach, które może być powiązane z czynnikiem wyzwalającym i objąć dowolną okolicę ciała (w tym powierzchnię błon śluzowych). Objawy pozaskórne mogą obejmować wady paznokci, zapalenie powiek, suchość oka, choroby neuropsychiatryczne, nawracającą niedrożność ślinianki przyusznej i suchość w jamie ustnej."},"cs":{"name":"Darierova nemoc","synonyms":["Darierova-Whiteova choroba","Folikulární keratóza","Darier-Whiteova choroba"]},"uk":{"name":"Хвороба Дарє","synonyms":["Хвороба Дарє-Уайта","Фолікулярний кератоз"],"definition":"A rare, genetic keratinization disorder which is classically characterized by keratotic papules, acral pits, and acral wart-like lesions that can be associated with a trigger, and may occur anywhere on the body (including mucosal surfaces). Extracutaneous manifestations may include, nail anomalies, blepharitis, dry eye, neuropsychiatric illness and, recurrent parotid gland obstruction and xerostomia."},"zh":{"name":"毛囊角化病","synonyms":["毛囊角化病"]},"tr":{"name":"Darier hastalığı","synonyms":["Darier-White hastalığı","Keratoz foliküler"]}},"xrefs":[{"source":"OMIM","code":"124200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"EC20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"643994486"},{"source":"MONDO","code":"0007417","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007644","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0022595","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6243","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10023369","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]}],"children":[],"genes":[{"symbol":"ATP2A2","name":"ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22909361[PMID]_23356892[PMID]_23621824[PMID]","hgnc":"812","ensembl":"ENSG00000174437","omim":"108740","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"United Kingdom","status":"Validated","source":"1390140[PMID]_11841374[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Denmark","status":"Validated","source":"13835928[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"Slovenia","status":"Validated","source":"16001099[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.4,"area":"Europe","status":"Validated","source":"1390140[PMID]_11841374[PMID]_16001099[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.31,"area":"Singapore","status":"Validated","source":"15727640[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-07-18","source":"30137841[PMID]_38705197[PMID]_37545821[PMID]_26945535[PMID]","terms":[{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200016","label":"Acrokeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008410","label":"Subungual hyperkeratotic fragments","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005212","label":"Anal mucosal leukoplakia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031288","label":"Cobblestone-like hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001808","label":"Fragile nails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6001074","label":"Longitudinal erythronychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010610","label":"Palmar pits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010612","label":"Plantar pits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011859","label":"Punctate keratitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Occasional (29-5%)","criteria":null}]}}