{"orpha":564178,"name":"Primary hypomagnesemia-refractory seizures-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-564178/","orphanet_url":"https://www.orpha.net/en/disease/detail/564178","names":{"fr":{"name":"Syndrome d'hypomagnésémie primaire-épilepsie réfractaire-déficience intellectuelle","definition":"Anomalie génétique rare du transport du magnésium caractérisée par l'apparition infantile de crises généralisées et d'une hypomagnésémie sévère due à une perte massive de magnésium par voie rénale. Les crises d'épilepsie persistent malgré une supplémentation en magnésium et sont associées à un important retard de développement global et à une déficience intellectuelle. L'IRM cérébrale peut mettre en évidence une perte du volume cérébral."},"de":{"name":"Syndrom der primären Hypomagnesiämie mit refraktären Krämpfen und Intelligenzminderung","definition":"Eine seltene genetische Stoffwechselstörug, die durch generalisierte Krampfanfälle im Kindesalter und eine schwere Hypomagnesiämie aufgrund eines massiven renalen Magnesiumverlusts gekennzeichnet ist. Die Anfälle bleiben trotz Magnesiumergänzung bestehen und gehen mit einer erheblichen globalen Entwicklungsverzögerung und Intelligenzminderung einher. Die MRT des Gehirns kann ein verringertes Hirnvolumen zeigen."},"es":{"name":"Síndrome de hipomagnesemia primaria-epilepsia refractaria-discapacidad intelectual","definition":"Es un trastorno genético y poco frecuente del transporte de magnesio caracterizado por el inicio en el periodo de lactancia de crisis generalizadas e hipomagnesemia grave debido a la pérdida masiva de magnesio renal. Las convulsiones persisten a pesar de la suplementación con magnesio y están asociadas a un retraso significativo del desarrollo global y discapacidad intelectual. La RM puede mostrar una reducción del volumen cerebral."},"it":{"name":"Sindrome da ipomagnesemia primitiva, crisi epilettiche refrattarie e disabilità intellettiva"},"nl":{"name":"Primaire hypomagnesiëmie - refractaire insulten - intellectuele achterstand-syndroom","definition":"Een zeldzame genetische aandoening van transport van magnesium, gekenmerkt door infantiele aanvang van gegeneraliseerde insulten en ernstige hypomagnesiëmie door massaal verlies van magnesium via de nieren. Insulten houden aan ondanks suppletie van magnesium, en zijn geassocieerd met significante algehele ontwikkelingsachterstand en intellectuele achterstand. MRI van hersenen toont mogelijk een gereduceerd cerebraal volume."},"pt":{"name":"Síndrome de hipomagnesemia primária-convulsões refratárias-perturbação do desenvolvimento intelectual","definition":"Doença genética rara do transporte de magnésio caracterizada por início na infância de convulsões generalizadas e hipomagnesemia grave devido a perda renal maciça de magnésio. As convulsões persistem apesar da suplementação de magnésio e estão associadas a atraso global do desenvolvimento e perturbação do desenvolvimento intelectual significativos. A ressonância magnética cerebral pode demonstrar redução do volume cerebral."},"pl":{"name":"Pierwotna hipomagnezemia z napadami opornymi na leczenie i niepełnosprawnością intelektualną"},"cs":{"name":"Primární hypomagnezémie s refrakterními záchvaty a mentální retardací"},"uk":{"name":"Синдром первинної гіпомагніємії-рефрактерних судом-інтелектуальної недостатності","definition":"A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume."},"zh":{"name":"原发性低镁血症伴难治性癫痫发作和智力障碍"},"tr":{"name":"Refrakter nöbetler ve zihinsel yetersizlik ile seyreden primer hipomagnezemi"}},"xrefs":[{"source":"OMIM","code":"618314","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5681271","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":309848,"name":"Disorder of magnesium transport","classifications":[150,156]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATP1A1","name":"ATPase Na+/K+ transporting subunit alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30388404[PMID]","hgnc":"799","ensembl":"ENSG00000163399","omim":"182310","loci":["1p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30388404[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"30388404[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-08-26","source":"30388404[PMID]","terms":[{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006872","label":"Cerebral hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012726","label":"Episodic hypokalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005567","label":"Renal magnesium wasting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000128","label":"Renal potassium wasting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Frequent (79-30%)","criteria":null}]}}