{"orpha":369929,"name":"Primary hyperaldosteronism-seizures-neurological abnormalities syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369929/","orphanet_url":"https://www.orpha.net/en/disease/detail/369929","names":{"fr":{"name":"Syndrome d'hyperaldostéronisme primitif-épilepsie-anomalies neurologiques","definition":"Maladie neurologique génétique rare caractérisée par un hyperaldostéronisme primitif se manifestant par une hypertension sévère à début précoce, une hypokaliémie et des manifestations neurologiques (notamment des convulsions, une hypotonie sévère, une spasticité, une paralysie cérébrale et un retard de développement profond/une déficience intellectuelle)."},"de":{"name":"Primärer Hyperaldosteronismus-Krämpfe-Neurologische Anomalien-Syndrom","definition":"Eine seltene, genetisch bedingte, neurologische Erkrankung, die durch einen primären Hyperaldosteronismus gekennzeichnet ist, der sich durch eine früh einsetzende, schwere Hypertonie, Hypokaliämie und neurologische Manifestationen (einschließlich Krampfanfällen, schwerer Hypotonie, Spastik, zerebraler Lähmung und tiefgreifender Entwicklungsverzögerung/intellektueller Entwicklungsstörung) auszeichnet."},"es":{"name":"Síndrome de hiperaldosteronismo primario-crisis-anomalías neurológicas","definition":"Es una enfermedad neurológica de origen genético y poco frecuente caracterizada por hiperaldosteronismo primario que se presenta con hipertensión grave de inicio precoz, hipopotasemia y manifestaciones neurológicas (crisis epilépticas, hipotonía severa o espasticidad, parálisis cerebral y retraso psicomotor profundo o discapacidad intelectual)."},"it":{"name":"Sindrome da iperaldosteronismo primitivo-crisi epilettiche-anomalie neurologiche","synonyms":["APA con malattia neuromuscolare complessa","Adenoma di Conn con malattia neuromuscolare complessa","Adenoma secernente adolsterone con malattia neuromuscolare complessa"],"definition":"Si tratta di una malattia neurologica genetica rara, caratterizzata da iperaldosteronismo primitivo, che esordisce con ipertensione grave ad esordio precoce, ipokaliemia e sintomi neurologici (crisi epilettiche, ipotonia grave, spasticità, paralisi cerebrale e grave ritardo dello sviluppo/disabilità intellettiva)."},"nl":{"name":"Primair hyperaldosteronisme - insulten - neurologische anomalieën-syndroom","definition":"Een zeldzame, genetische, neurologische ziekte gekarakteriseerd door primair hyperaldosteronisme dat zich voordoet met vroeg aanvangende en ernstige hypertensie, hypokaliëmie en neurologische manifestaties (waaronder insulten, ernstige hypotonie, spasticiteit, hersenverlamming en zeer ernstige ontwikkelingsachterstand/intellectuele achterstand)."},"pt":{"name":"Adenoma secretor de aldosterona com doença neuromuscular complexa"},"pl":{"name":"Gruczolak produkujący aldosteron ze złożoną chorobą nerwowo-mięśniową","synonyms":["APA ze złożoną chorobą nerwowo-mięśniową","Gruczolak Conna ze złożoną chorobą nerwowo-mięśniową","Gruczolak wydzielający aldosteron ze złożoną chorobą nerwowo-mięśniową"]},"cs":{"name":"Adenom produkující aldosteron se záchvaty a neurologickými abnormalitami","synonyms":["APA se záchvaty a neurologickými abnormalitami","Adenom sekretující aldosteron se záchvaty a neurologickými abnormalitami","Connův adenom se záchvaty a neurologickými abnormalitami"]},"uk":{"name":"Синдром первинного гіперальдостеронізму-судом-неврологічних порушень","definition":"A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability)."},"zh":{"name":"原发性醛固酮增多症伴癫痫和神经系统异常综合征","definition":"本病是一种罕见的遗传性神经系统疾病，其特征在于原发性醛固酮增多症，表现为早期发作，严重的高血压、低血钾和神经系统表现（包括癫痫发作、严重肌张力低下、痉挛，脑瘫和极重度的发育迟缓/智力障碍）。"},"tr":{"name":"Primer hiperaldosteronizm-nöbetler-nörolojik anormallikler sendromu"}},"xrefs":[{"source":"OMIM","code":"615474","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E26.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014200","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14200","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5230308","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371861,"name":"Genetic hyperaldosteronism","classifications":[156]},{"orpha":231637,"name":"Rare surgically correctable form of primary aldosteronism","classifications":[193]}],"children":[],"genes":[{"symbol":"CACNA1D","name":"calcium voltage-gated channel subunit alpha1 D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23913001[PMID]","hgnc":"1391","ensembl":"ENSG00000157388","omim":"114206","loci":["3p21.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23913001[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":"2016-08-29","source":"23913001[PMID]_26934393[PMID]_27036860[PMID]","terms":[{"hpo":"HP:0040084","label":"Abnormal circulating renin","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000859","label":"Increased circulating aldosterone concentration","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001714","label":"Ventricular hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002305","label":"Athetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011410","label":"Caesarian section","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100285","label":"EMG: impaired neuromuscular transmission","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011166","label":"Focal myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200114","label":"Metabolic alkalosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011706","label":"Second degree atrioventricular block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008221","label":"Adrenal hyperplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011739","label":"Dexamethasone-suppresible primary hyperaldosteronism","frequency":"Excluded (0%)","criteria":null}]}}