{"orpha":642671,"name":"Familial hyperaldosteronism type IV","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FH4"],"definition":"A rare familial hyperaldosteronism characterized by elevated aldosterone levels and low plasma renin activity, early-onset hypertension, and hypokalemia. Developmental delay, learning disabilities, behavioral abnormalities, and attention deficit disorder are observed in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-642671/","orphanet_url":"https://www.orpha.net/en/disease/detail/642671","names":{"fr":{"name":"Hyperaldostéronisme familial type IV","definition":"Hyperaldostéronisme familial rare caractérisé par des taux élevés d'aldostérone, une faible activité de la rénine plasmatique, une hypertension à début précoce et une hypokaliémie. Un retard de développement, des difficultés d'apprentissage, des troubles du comportement et un déficit de l'attention sont observés chez certains patients."},"de":{"name":"Hyperaldosteronismus, familiärer, Typ IV","synonyms":["FH4"],"definition":"Ein seltener familiärer Hyperaldosteronismus, der durch erhöhte Aldosteronwerte und niedrige Plasma-Renin-Aktivität, früh einsetzenden Bluthochdruck und Hypokaliämie gekennzeichnet ist. Bei einigen Patienten werden Entwicklungsverzögerungen, Lernbehinderungen, Verhaltensauffälligkeiten und Aufmerksamkeitsdefizitsyndrome beobachtet."},"es":{"name":"Hiperaldosteronismo familiar tipo IV","synonyms":["FH4"],"definition":"Es un hiperaldosteronismo familiar poco frecuente caracterizado por niveles elevados de aldosterona y baja actividad de renina plasmática, hipertensión de aparición precoz e hipopotasemia. En algunos pacientes se observan retrasos del desarrollo, problemas de aprendizaje, trastornos de la conducta y trastorno por déficit de atención."},"it":{"name":"Iperaldosteronismo familiare tipo IV","synonyms":["FH4"]},"nl":{"name":"Familiaal hyperaldosteronisme type IV","synonyms":["FH4"],"definition":"Een zeldzaam familiaal hyperaldosteronisme, gekenmerkt door verhoogde gehaltes van aldosteron en lage activiteit van renine in plasma, vroeg optredende hypertensie, en hypokaliëmie. Bij sommige patiënten worden ontwikkelingsachterstand, leerbeperkingen, gedragsafwijkingen, en aandachtsdeficiëntiestoornis waargenomen."},"pt":{"name":"Hiperaldosteronismo familiar tipo IV","synonyms":["FH4"],"definition":"Hiperaldosteronismo familiar raro caracterizado por níveis elevados de aldosterona e baixa atividade de renina plasmática, hipertensão de início precoce e hipocalemia. Atraso no desenvolvimento, dificuldades de aprendizagem, anomalias comportamentais e transtorno de défice de atenção são observados em alguns doentes."},"pl":{"name":"Rodzinny hiperaldosteronizm typu IV","synonyms":["FH4"]},"cs":{"name":"Familiární hyperaldosteronismus, typ IV","synonyms":["FH4"]},"uk":{"name":"Сімейний гіперальдостеронізм, тип IV","synonyms":["FH4"]}},"xrefs":[{"source":"OMIM","code":"617027","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E26.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014875","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310756","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":235936,"name":"Familial hyperaldosteronism","classifications":[156,188,193,233]}],"children":[],"genes":[{"symbol":"CACNA1H","name":"calcium voltage-gated channel subunit alpha1 H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"27729216[PMID]_25907736[PMID]","hgnc":"1395","ensembl":"ENSG00000196557","omim":"607904","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"38860417[PMID]_35757409[PMID]_39803142[PMID]_38495792[PMID]_25907736[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"38860417[PMID]_35757409[PMID]_39803142[PMID]_38495792[PMID]_25907736[PMID]_ORPHANET"}],"phenotypes":null}