{"orpha":2770,"name":"Nasu-Hakola disease","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["NHD","PLO-SL","PLOSL","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"],"definition":"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2770/","orphanet_url":"https://www.orpha.net/en/disease/detail/2770","names":{"fr":{"name":"Maladie de Nasu-Hakola","synonyms":["NHD","Ostéodysplasie polykystique lipomembraneuse avec leucoencéphalopathie sclérosante","PLO-SL"],"definition":"La maladie de Nasu-Hakola (MNH), également connue sous le nom d'ostéodysplasie polykystique lipomembraneuse avec leucoencéphalopathie sclérosante, est une leucodystrophie héréditaire rare, caractérisée par une démence présénile progressive associée à des fractures osseuses récurrentes, dues à des lésions osseuses polykystiques des extrémités supérieures et inférieures."},"de":{"name":"Nasu-Hakola-Krankheit","synonyms":["NHD","Osteodysplasie, lipomembranöse polyzystische - sklerosierende Leukoenzephalopathie","PLO-SL","PLOSL"],"definition":"Die Nasu-Hakola-Krankheit (NHD), auch als polyzystische lipo-membranöse Osteodysplasie mit sklerosierender Leukoenzephalopathie (PLOSL) bezeichnet, ist eine seltene erbliche Leukodystrophie, die durch eine progressive präsenile Demenz, assoziiert mit wiederholten Knochenfrakturen aufgrund polyzystischer Knochenläsionen der unteren und oberen Extremitäten, gekennzeichnet ist."},"es":{"name":"Enfermedad de Nasu-Hakola","synonyms":["PLO-SL","PLOSL","NHD","Osteodisplasia poliquística lipomembranosa con leudoencefalopatía esclerosante"],"definition":"La enfermedad de Nasu-Hakola (NHD), también denominada como osteodisplasia poliquística lipomembranosa con leudoencefalopatía esclerosante (PLOSL), es una leucodistrofia hereditaria poco frecuente que se caracteriza por una demencia presenil progresiva asociada con fracturas de huesos recurrentes debido a lesiones óseas poliquísticas de las extremidades inferiores y superiores."},"it":{"name":"Malattia di Nasu-Hakola","synonyms":["NHD","Osteodisplasia lipomembranosa policistica con leucoencefalopatia sclerosante","PLO-SL","PLOSL"],"definition":"La malattia di Nasu-Hakola (NHD), nota anche come osteodisplasia lipomembranosa policistica con leucoencefalopatia sclerosante (PLOSL), è una rara leucodistrofia ereditaria con demenza presenile progressiva, associata a fratture ossee ricorrenti da lesioni scheletriche policistiche agli arti inferiori e superiori."},"nl":{"name":"Ziekte van Nasu-Hakola","synonyms":["NHD","PLO-SL","PLOSL","Polycystische lipomembraneuze osteodysplasie met scleroserende leuko-encefalopathie"],"definition":"De ziekte van Nasu-Hakola (NHD), ook wel polycystische lipomembraneuze osteodysplasie met scleroserende leuko-encefalopathie genoemd (PLOSL), is een zeldzame erfelijke leukodystrofie gekenmerkt door progressieve vroegtijdige dementie geassocieerd met terugkerende botbreuken door polycystische botlaesies in armen en benen."},"pt":{"name":"Doença de Nasu-Hakola","synonyms":["Osteodisplasia lipomembranosa poliquística com leucoencefalopatia esclerosante","PLO-SL"]},"pl":{"name":"Choroba Nasu i Hakoli","synonyms":["NHD","plOSL","plO-SL","Wielotorbielowata tłuszczowo-błoniasta osteodysplazja ze stwardniajacą leukoencefalopatią"]},"cs":{"name":"Nasuova-Hakolova nemoc","synonyms":["NHD","PLO-SL","PLOSL","Polycystická lipomembranózní osteodysplázie se sklerotizující leukoencefalopatií","Nasu-Hakolova nemoc"]},"uk":{"name":"Хвороба Насу-Хакола","synonyms":["NHD","PLOSL","PLO-SL","Полікістозна ліпомембранна остеодисплазія зі склерозуючою лейкоенцефалопатією"],"definition":"Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities."},"zh":{"name":"Nasu-Hakola病","synonyms":["多囊性脂膜样骨发育不良伴硬化性白质脑病"]},"tr":{"name":"Nasu-Hakola hastalığı","synonyms":["NHD","PLOSL","PLO-SL","Sklerozan lökoensefalopati ile seyreden polikistik lipomembranöz osteodisplazi"]}},"xrefs":[{"source":"OMIM","code":"221770","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618193","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"295989674"},{"source":"MONDO","code":"0009092","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536329","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857316","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9921","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":276058,"name":"Genetic neurodegenerative disease with dementia","classifications":[156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]},{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TREM2","name":"triggering receptor expressed on myeloid cells 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301376[PMID]","hgnc":"17761","ensembl":"ENSG00000095970","omim":"605086","loci":["6p21.1"]},{"symbol":"TYROBP","name":"transmembrane immune signaling adaptor TYROBP","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301376[PMID]","hgnc":"12449","ensembl":"ENSG00000011600","omim":"604142","loci":["19q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Finland","status":"Validated","source":"9463329[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009124","label":"Abnormal adipose tissue morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000734","label":"Disinhibition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000727","label":"Frontal lobe dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010524","label":"Agnosia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002488","label":"Acute leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012719","label":"Functional abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null}]}}