{"orpha":65285,"name":"Lhermitte-Duclos disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Dysplastic gangliocytoma of the cerebellum","LDD"],"definition":"A rare developmental defect during embryogenesis characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. The tumors can be characterized by the abnormal growth of ganglion cells that regulate activities in the cerebellum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65285/","orphanet_url":"https://www.orpha.net/en/disease/detail/65285","names":{"fr":{"name":"Maladie de Lhermitte-Duclos","synonyms":["Gangliocytome dysplasique du cervelet"],"definition":"Anomalie rare du développement embryonnaire caractérisée par un développement anormal et un élargissement du cervelet, et une pression intracrânienne élevée. Les tumeurs peuvent se caractériser par une croissance anormale des cellules ganglionnaires qui régulent les activités du cervelet."},"de":{"name":"Lhermitte-Duclos-Krankheit","synonyms":["Dysplastisches zerebelläres Gangliozytom","LDD"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch eine abnorme Entwicklung und Vergrößerung des Kleinhirns sowie einen erhöhten Hirndruck gekennzeichnet ist. Die Tumoren zeichnen sich durch ein abnormales Wachstum der Ganglienzellen aus, die die Aktivitäten im Kleinhirn regulieren."},"es":{"name":"Enfermedad de Lhermitte-Duclos","synonyms":["ELD","Gangliocitoma displásico cerebeloso"],"definition":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por un desarrollo anómalo y agrandamiento del cerebelo con aumento de la presión intracraneal. Los tumores pueden caracterizarse por el crecimiento anormal de células ganglionares que regulan las actividades del cerebelo."},"it":{"name":"Malattia di Lhermitte-Duclos","synonyms":["Gangliocitoma displastico del cervelletto","LDD"]},"nl":{"name":"Ziekte van Lhermitte-Duclos","synonyms":["Dysplastisch gangliocytoom van cerebellum","LDD"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekenmerkt door abnormale ontwikkeling en uitzetting van cerebellum, en een verhoogde intracraniële druk. De tumoren kunnen gekarakteriseerd worden door abnormale groei van ganglioncellen die activiteiten in cerebellum reguleren."},"pt":{"name":"Doença Lhermitte-Duclos","synonyms":["DLD","Ganglicitoma displásico do cerebelo"],"definition":"Defeito raro de desenvolvimento durante a embriogénese caracterizado por desenvolvimento anómalo e aumento do cerebelo, e uma pressão intracraniana aumentada. Os tumores podem ser caracterizados pelo crescimento anormal de células ganglionares que regulam atividades no cerebelo."},"pl":{"name":"Choroba Lhermitte'a i Duclosa","synonyms":["Dysplastyczny zwojak mózgu","LDD"]},"cs":{"name":"Lhermitte-Duclosova nemoc","synonyms":["LDD","Dysplastický gangliocytom mozečku"]},"uk":{"name":"Хвороба Лермітта-Дюкло","synonyms":["Диспластична гангліоцитома мозочка","LDD"],"definition":"A rare developmental defect during embryogenesis characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. The tumors can be characterized by the abnormal growth of ganglion cells that regulate activities in the cerebellum."},"zh":{"name":"小脑发育不良性节细胞瘤","synonyms":["小脑发育不良性节细胞瘤"]},"tr":{"name":"Lhermitte-Duclos hastalığı","synonyms":["LDD","Serebellumun displastik gangliositom"]}},"xrefs":[{"source":"OMIM","code":"158350","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A00.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1557864133"},{"source":"MONDO","code":"0019002","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0391826","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6901","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":251934,"name":"Mixed neuronal-glial tumor","classifications":[181,202]},{"orpha":306498,"name":"PTEN hamartoma tumor syndrome","classifications":[147,152,156,187,202,233]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"14566704[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":220.0,"area":"Worldwide","status":"Validated","source":"16459996[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"18781191[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012081","label":"Enlarged cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200016","label":"Acrokeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010619","label":"Fibroadenoma of the breast","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100031","label":"Neoplasm of the thyroid gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012844","label":"Trichilemmoma","frequency":"Frequent (79-30%)","criteria":null}]}}