{"orpha":98892,"name":"Periventricular nodular heterotopia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PVNH"],"definition":"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98892/","orphanet_url":"https://www.orpha.net/en/disease/detail/98892","names":{"fr":{"name":"Hétérotopie nodulaire périventriculaire","definition":"Malformation cérébrale due à une anomalie de la migration neuronale, caractérisée par l'absence de migration vers le cortex cérébral en développement d'un groupe de neurones formant des nodules qui tapissent la surface ventriculaire. La HNP classique est une maladie rare, dominante, liée à l'X, beaucoup plus fréquente chez les femmes qui présentent une intelligence normale ou une déficience intellectuelle limite, une épilepsie de gravité variable et des signes non neurologiques, en particulier des anomalies cardiovasculaires ou une coagulopathie. La maladie est généralement associée à une létalité prénatale chez les garçons."},"de":{"name":"Heterotopie, noduläre periventrikuläre","synonyms":["PVNH"]},"es":{"name":"Heterotopia nodular periventricular","definition":"Es una malformación cerebral debida a una migración neuronal anómala en la que un subconjunto de neuronas no migra a la corteza cerebral en desarrollo y permanecen como nódulos que recubren la superficie ventricular. La forma clásica es un trastorno poco frecuente, con patrón de herencia dominante ligado al cromosoma X mucho más frecuente en mujeres, que presentan desde inteligencia normal hasta déficit intelectual límite, epilepsia de gravedad variable y signos fuera del SNC, especialmente defectos cardiovasculares o coagulopatía. Por lo general, el trastorno se asocia a letalidad prenatal en varones."},"it":{"name":"Eterotopia nodulare periventricolare","definition":"L'eterotopia nodulare periventricolare (PNH) è una malformazione cerebrale causata da un'anomalia della migrazione neuronale, nella quale un gruppo di neuroni non migra verso la corteccia cerebrale durante lo sviluppo e rimane sotto forma di noduli che ricoprono la superficie ventricolare. La PNH classica è una malattia rara dominante legata all'X, molto più frequente nelle femmine, che presentano intelligenza normale o deficit intellettivo borderline, epilessia di gravità variabile e altri segni non neurologici, in particolare i difetti cardiovascolari o le coagulopatie. Di solito nei maschi la malattia è letale in epoca prenatale."},"nl":{"name":"Periventriculaire nodulaire heterotopie","synonyms":["PVNH"],"definition":"Periventriculaire nodulaire heterotopie (PNH) is een malformatie van de hersenen als gevolg van abnormale neuronale migratie waarbij een deel van de neuronen niet migreert naar de zich ontwikkelende hersenschors en achterblijft als noduli die het ventriculaire oppervlak bekleden. Klassieke PNH is een zeldzame, X-gebonden, dominante stoornis die veel frequenter voorkomt bij vrouwen, die zich presenteren met een normale intelligentie tot marginale intellectuele achterstand, epilepsie met variabele gradaties van ernst en tekenen buiten het centrale zenuwstelsel, voornamelijk cardiovasculaire defecten of coagulopathie. Bij mannen is de stoornis doorgaans geassocieerd met prenatale sterfte."},"pt":{"name":"Heterotopia nodular periventricular"},"pl":{"name":"Heterotopia guzkowa okołokomorowa","synonyms":["PVNH"]},"cs":{"name":"Periventrikulární nodulární heterotopie","synonyms":["PVNH"]},"uk":{"name":"Перивентрикулярна вузловата гетеротопія","synonyms":["PVNH"],"definition":"Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males."},"zh":{"name":"脑室周围结节性异位症","synonyms":["PVNH"],"definition":"脑室周围结节异位症(PNH)是一种脑部畸形，由神经元异常迁移引起，其中一部分神经元不能迁移到发育中的大脑皮层，仍以结节的形式排列在脑室表面。经典的PNH是一种罕见的X连锁显性疾病，表现为智力正常到临界性智力障碍、不同严重程度的癫痫和中枢神经系统外体征(尤其是心血管缺陷或凝血障碍)，女性中更为常见，且这种疾病通常与男性的产前死亡有关。"},"tr":{"name":"Periventriküler nodüler heterotopi","synonyms":["PVNH"]}},"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":"OMIM","code":"617255","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618185","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618918","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":"20200096"},{"source":"MONDO","code":"0020341","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054091","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868720","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12724","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066854","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":82004,"name":"Ehlers-Danlos syndrome with periventricular heterotopia","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2149,"name":"Nodular neuronal heterotopia","classifications":[147,156,181]}],"children":[],"genes":[{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant"],"onset":["Childhood"],"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":"15668422[PMID]_30089473[PMID]_29449050[PMID]_28306229[PMID]","terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007165","label":"Periventricular heterotopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003834","label":"Shoulder dislocation","frequency":"Occasional (29-5%)","criteria":null}]}}