{"orpha":2386,"name":"Leukoencephalopathy-palmoplantar keratoderma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2386/","orphanet_url":"https://www.orpha.net/en/disease/detail/2386","names":{"fr":{"name":"Syndrome de leucoencéphalopathie-kératose palmoplantaire","definition":"Maladie génétique rare de l'épiderme caractérisée par une kératodermie palmoplantaire ponctuée apparaissant tôt dans l'enfance et associée à une leucoencéphalopathie apparaissant à l'âge adulte et se manifestant par un syndrome tétrapyramidal progressif et des troubles cognitifs."},"de":{"name":"Leukoenzephalopathie - Palmoplantarkeratose"},"es":{"name":"Síndrome de leucoencefalopatía-queratodermia palmoplantar","definition":"El síndrome de leucoencefalopatía - queratodermia palmoplantar es una enfermedad epidérmica genética poco frecuente, caracterizada por una queratodermia palmoplantar punteada de inicio en la infancia temprana asociada a una leucoencefalopatía de inicio en la edad adulta, que se manifiesta por un síndrome tetrapiramidal progresivo y deterioro cognitivo."},"it":{"name":"Sindrome da leucoencefalopatia e cheratoderma plantare","definition":"La sindrome che associa la leucoencefalopatia e il cheratoderma palmoplantare è una malattia genetica rara dell'epidermide, che esordisce nella prima infanzia con cheratoderma palmoplantare puntato, associato a leucoencefalopatia ad esordio nell'età adulta, che si manifesta con una sindrome tetrapiramidale progressiva e un deterioramento cognitivo."},"nl":{"name":"Leuko-encefalopathie - palmoplantaire keratodermie-syndroom","definition":"Leuko-encefalopathie - palmoplantaire keratodermie-syndroom is een zeldzame, genetische epidermale ziekte die gekarakteriseerd wordt door aanvang in de vroege kindertijd van puntvormige palmoplantaire keratodermie, geassocieerd met in de volwassenheid aanvangende leuko-encefalopathie die zich manifesteert met progressief tetrapiramidaal syndroom en cognitieve aftakeling."},"pt":{"name":"Síndrome de leucoencefalopatia-queratodermia palmoplantar"},"pl":{"name":"Zespół leukoencefalopatii i rogowca dłoni i stóp"},"cs":{"name":"Syndrom zahrnující leukoencefalopatii a palmoplantární keratoderma"},"uk":{"name":"Синдром лейкоенцефалопатії-пальмоплантарної кератодермії","definition":"Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration."},"zh":{"name":"脑白质病-掌跖皮肤角化病综合征"},"tr":{"name":"Lökoensefalopati-palmoplantar keratoderma sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.32","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016545","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749769","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3232","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":308041,"name":"Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"7854535[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7854535[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-27","source":"7854535[PMID]","terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010845","label":"EEG with generalized slow activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002200","label":"Pseudobulbar signs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100252","label":"Diaphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003380","label":"Decreased number of peripheral myelinated nerve fibers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null}]}}