{"orpha":87503,"name":"Mal de Meleda","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Meleda disease"],"definition":"A rare diffuse palmoplantar keratoderma characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-87503/","orphanet_url":"https://www.orpha.net/en/disease/detail/87503","names":{"fr":{"name":"Mal de Meleda","synonyms":["Maladie de Méléda"],"definition":"Kératodermie palmoplantaire diffuse rare caractérisée par une hyperkératose palmoplantaire symétrique qui s'étend progressivement aux surfaces dorsales des mains et des pieds (transgrediens). La maladie peut être associée à une hyperhidrose, à des plaques lichénoïdes et à un érythème péribuccal."},"de":{"name":"Mal de Meleda","synonyms":["Meleda-Krankheit"],"definition":"Eine seltene diffuse Palmoplantarkeratose, die durch eine symmetrische palmoplantare Hyperkeratose gekennzeichnet ist, die sich allmählich auf die Dorsalflächen von Händen und Füßen ausdehnt (transgrediens). Die Krankheit kann mit Hyperhidrose, lichenoiden Plaques und perioralen Erythemen einhergehen."},"es":{"name":"Mal de Meleda","synonyms":["Enfermedad de Meleda"],"definition":"Es una queratodermia palmoplantar difusa poco frecuente caracterizada por hiperqueratosis palmoplantar simétrica que se extiende progresivamente a las superficies dorsales de manos y pies (transgrediens). La enfermedad puede asociarse a hiperhidrosis, placas liquenoides y eritema perioral."},"it":{"name":"Mal de Meleda","synonyms":["Malattia di Meleda"],"definition":"La malattia di Meleda (MdM) è un cheratoderma palmo-plantare diffuso, inizialmente osservato nell'isola di Meleda, caratterizzato da ipercheratosi palmo-plantare simmetrica che si estende progressivamente sulla superficie dorsale delle mani e dei piedi (cosiddetta transgrediente). La malattia può associarsi ad iperidrosi, placche lichenoidi ed eritema periorale."},"nl":{"name":"Mal de Meleda","synonyms":["Ziekte van Meleda"],"definition":"Een zeldzame diffuse palmoplantaire keratodermie, gekenmerkt door symmetrische palmoplantaire hyperkeratose die progressief uitbreidt naar dorsale oppervlakken van handen en voeten (transgrediens). De ziekte kan geassocieerd zijn met hyperhidrose, lichenoïde plaques en perioraal erytheem."},"pt":{"name":"Mal de Meleda","definition":"Queratodermia palmoplantar difusa rara caracterizada por hiperqueratose palmoplantar simétrica que se estende progressivamente às superfícies dorsais das mãos e dos pés (transgrediens). A doença pode estar associada a hiperidrose, placas liquenóides e eritema perioral."},"pl":{"name":"Mal de Meleda - endemiczny symetryczny rogowiec dłoni i stóp","synonyms":["Choroba Meleda","Rogowiec dłoni i stóp Siemensa","Transgrediens palmoplantar keratoderma of Siemens"]},"cs":{"name":"Meledova choroba","synonyms":["Siemensova palmoplantární transgredientní keratóza","Nemoc z Meledy","Siemensova transgredientní palmoplantární keratoderma","Keratosis palmaris et plantaris"]},"uk":{"name":"Маль де Меледа","synonyms":["Трансгресивний кератоз долонь від Siemens","Хвороба Меледа","Трансгредієнтна долонно-підошовна кератодермія Сіменса"],"definition":"A rare diffuse palmoplantar keratoderma characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema."},"zh":{"name":"Meleda角化病","synonyms":["Transgrediens掌跖角化病Siemens"]},"tr":{"name":"Mal de Meleda","synonyms":["Meleda hastalığı","Siemens'in keratosis palmoplantaris transgrediensi","Siemens'in transgrediens palmoplantar keratoderması"]}},"xrefs":[{"source":"OMIM","code":"248300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1850911834"},{"source":"MONDO","code":"0009552","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0025221","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"92","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":86923,"name":"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98356,"name":"Autosomal recessive isolated diffuse palmoplantar keratoderma","classifications":[156,187]}],"children":[],"genes":[{"symbol":"SLURP1","name":"secreted LY6/PLAUR domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12483299[PMID]_20854438[PMID]","hgnc":"18746","ensembl":"ENSG00000126233","omim":"606119","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"9887370[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-29","source":"25557416[PMID]_26945534[PMID]_26445964[PMID]","terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007404","label":"Nonepidermolytic palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031190","label":"Superficial dermal perivascular inflammatory infiltrate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001218","label":"Autoamputation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007447","label":"Diffuse palmoplantar kyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007390","label":"Hyperkeratosis with erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031452","label":"Lichenoid skin lesion","frequency":"Occasional (29-5%)","criteria":null}]}}