{"orpha":2149,"name":"Nodular neuronal heterotopia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2149/","orphanet_url":"https://www.orpha.net/en/disease/detail/2149","names":{"fr":{"name":"Hétérotopie neuronale nodulaire","definition":"Malformation cérébrale non syndromique rare due à une migration anormale des neurones, caractérisée par des amas de neurones désorganisés de localisation anormale, à savoir, dans la région périventriculaire et la zone sous-corticale. L'ampleur des lésions varie de lésions uniques isolées à des nodules confluents bilatéraux. Les patients pédiatriques présentent généralement divers degrés de retard de développement, de déficience intellectuelle et d'épilepsie réfractaire ; des malformations cérébrales et/ou systémiques concomitantes sont fréquentes. Des formes plus légères de la maladie peuvent se manifester à l'âge adulte par des crises épileptiques."},"de":{"name":"Heterotopie, neuronale noduläre","definition":"Eine seltene nicht-syndromale zerebrale Fehlbildung, die auf eine abnorme Neuronenmigration zurückzuführen ist und durch Cluster von desorganisierten Neuronen an abnormalen Stellen wie periventrikulär und subkortikal gekennzeichnet ist. Das Ausmaß der Läsionen reicht von einzelnen isolierten bis hin zu beidseitig konfluierenden Knoten. Pädiatrische Patienten weisen typischerweise Entwicklungsverzögerungen unterschiedlichen Ausmaßes, Intelligenzminderungen und hartnäckige Epilepsie auf, und häufig sind gleichzeitig zerebrale und/oder systemische Fehlbildungen vorhanden. Bei milderen Formen können die Anfälle im Erwachsenenalter auftreten."},"es":{"name":"Heterotopia neuronal nodular","definition":"Es una malformación cerebral no sindrómica poco frecuente debida a una migración neuronal anómala caracterizada por grupos de neuronas desorganizadas en ubicaciones anómalas como periventricular y subcortical. La extensión de las lesiones varía desde nódulos únicos aislados hasta nódulos confluentes bilaterales. Los pacientes pediátricos suelen mostrar grados variables de retraso del desarrollo, discapacidad intelectual y epilepsia intratable, y son frecuentes las malformaciones cerebrales y/o sistémicas concomitantes. Las formas más leves pueden presentarse con el inicio de crisis en la edad adulta."},"it":{"name":"Eterotopia neuronale nodulare","definition":"Si tratta di una malformazione cerebrale rara non sindromica, causata da anomalie della migrazione neuronale, con raggruppamenti di neuroni disorganizzati in sedi anomale, come l'area periventricolare e sottocorticale. L'estensione delle lesioni va dai noduli singoli isolati fino ai noduli confluenti bilaterali. In genere i pazienti pediatrici presentano ritardo dello sviluppo di gravità variabile, disabilità intellettiva ed epilessia non trattabile; sono comuni le malformazioni cerebrali e/o sistemiche. Nelle forme più lievi le crisi epilettiche esordiscono nell'età adulta."},"nl":{"name":"Nodulaire neuronale heterotopie","definition":"Een zeldzame niet-syndromale cerebrale malformatie door abnormale neuronale migratie, gekenmerkt door clusters van gedesorganiseerde neuronen op abnormale locaties zoals periventriculaire en subcorticale gebieden. De omvang van de laesies varieert van geïsoleerde enkelvoudige tot bilaterale confluente noduli. Pediatrische patiënten vertonen doorgaans variabele gradaties van ontwikkelingsachterstand, intellectuele achterstand, en refractaire epilepsie, en concomitante cerebrale en/of systemische malformaties komen vaak voor. Bij mildere vormen treden insulten mogelijk pas op in de volwassenheid."},"pt":{"name":"Heterotopia nodular hereditária","definition":"Malformação cerebral rara não sindrómica devido a migração neuronal anómala caracterizada por aglomerados desorganizados de neurónios em locais atípicos, como a localização periventricular e subcortical. A extensão das lesões varia de nódulos confluentes únicos a bilaterais isolados. Os doentes em idade pediátrica habitualmente apresentam graus variáveis ​​de perturbação do desenvolvimento intelectual e epilepsia intratável, e as malformações cerebrais e/ou sistémicas concomitantes são frequentes. Nas formas mais ligeiras o início de convulsões pode ocorrer apenas na idade adulta."},"pl":{"name":"Heterotopia neuronalna typu guzkowego"},"cs":{"name":"Nodulární neuronální heterotopie"},"uk":{"name":"Вузлова нейронна гетеротопія","definition":"A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood."},"zh":{"name":"结节状神经元异位"},"tr":{"name":"Nodüler nöronal heterotopi"}},"xrefs":[{"source":"OMIM","code":"300049","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608097","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608098","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612881","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615544","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617201","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"143592859"},{"source":"MONDO","code":"0016292","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680679","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":163209,"name":"Non-syndromic cerebral malformation due to abnormal neuronal migration","classifications":[147,156,181]}],"children":[{"orpha":98892,"name":"Periventricular nodular heterotopia","type":"Clinical subtype"},{"orpha":101029,"name":"Sub-cortical nodular heterotopia","type":"Clinical subtype"},{"orpha":101030,"name":"Subependymal nodular heterotopia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"FLNA","name":"filamin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301392[PMID]","hgnc":"3754","ensembl":"ENSG00000196924","omim":"300017","loci":["Xq28"],"via":{"orpha":98892,"name":"Periventricular nodular heterotopia"}},{"symbol":"MAP1B","name":"microtubule associated protein 1B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29738522[PMID]","hgnc":"6836","ensembl":"ENSG00000131711","omim":"157129","loci":["5q13.2"],"via":{"orpha":98892,"name":"Periventricular nodular heterotopia"}},{"symbol":"TMTC3","name":"transmembrane O-mannosyltransferase targeting cadherins 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27773428[PMID]_28973161[PMID]","hgnc":"26899","ensembl":"ENSG00000139324","omim":"617218","loci":["12q21.32"],"via":{"orpha":98892,"name":"Periventricular nodular heterotopia"}},{"symbol":"ARF1","name":"ARF GTPase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28868155[PMID]","hgnc":"652","ensembl":"ENSG00000143761","omim":"103180","loci":["1q42.13"],"via":{"orpha":98892,"name":"Periventricular nodular heterotopia"}},{"symbol":"ARFGEF2","name":"ARF guanine nucleotide exchange factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14647276[PMID]_25160555[PMID]","hgnc":"15853","ensembl":"ENSG00000124198","omim":"605371","loci":["20q13.13"],"via":{"orpha":98892,"name":"Periventricular nodular heterotopia"}},{"symbol":"ERMARD","name":"ER membrane associated RNA degradation","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24056535[PMID]","hgnc":"21056","ensembl":"ENSG00000130023","omim":"615532","loci":["6q27"],"via":{"orpha":98892,"name":"Periventricular nodular heterotopia"}},{"symbol":"NEDD4L","name":"NEDD4 like E3 ubiquitin protein ligase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27694961[PMID]","hgnc":"7728","ensembl":"ENSG00000049759","omim":"606384","loci":["18q21.31"],"via":{"orpha":98892,"name":"Periventricular nodular heterotopia"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null}]}}