{"orpha":320,"name":"Apparent mineralocorticoid excess","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["11-beta-hydroxysteroid dehydrogenase deficiency type 2","Ulick syndrome"],"definition":"A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-320/","orphanet_url":"https://www.orpha.net/en/disease/detail/320","names":{"fr":{"name":"Excès apparent de minéralocorticoïdes","synonyms":["Déficit en 11-bêta-hydroxystéroïde déshydogénase type 2","Syndrome d'Ulick"],"definition":"L'excès apparent de minéralocorticoïdes (EAM) est une forme rare de pseudohyperaldostéronisme caractérisée par un début très précoce et une hypertension sévère, associés à de faibles taux de rénine et un hypoaldostéronisme."},"de":{"name":"Apparenter Mineralocorticoid Exzess","synonyms":["11-beta-Hydroxysteroid-Dehydrogenase-Mangel Typ 2","Ulick-Syndrom"],"definition":"Der Apparente Mineralokortikoid-Exzess (AME) ist eine seltene Form von Pseudo-Hyperaldosteronismus, der durch eine sehr früh einsetzende und schwere Hypertonie gekennzeichnet ist, die mit niedrigen Reninwerten und Hypoaldosteronismus einhergeht."},"es":{"name":"Exceso aparente de mineralocorticoides","synonyms":["Deficiencia de 11-beta-hidroxiesteroide-deshidrogenasa","Síndrome de Ulick"],"definition":"Es una forma poco frecuente de pseudohiperaldosteronismo, que se inicia habitualmente en la primera infancia, caracterizada generalmente con un cuadro clínico de hipertensión arterial grave y que se asocia con niveles bajos de renina y de aldosterona."},"it":{"name":"Eccesso apparente di mineralcorticoidi","synonyms":["Deficit di 11-beta-idrossisteroido deidrogenasi, tipo 2","Sindrome di Ulick"],"definition":"È una forma rara di pseudoiperaldosteronismo caratterizzata da ipertensione grave ad esordio molto precoce associata a livelli bassi di renina e ipoaldosteronismo."},"nl":{"name":"Schijnbare overmaat aan mineralocorticoïd","synonyms":["Deficiëntie van 11-bèta-hydroxysteroïddehydrogenase type 2","Syndroom van Ulick"],"definition":"Een zeldzame vorm van pseudohyperaldosteronisme, gekarakteriseerd door zeer vroeg optredende en ernstige hypertensie, geassocieerd met lage gehaltes van renine en hypoaldosteronisme."},"pt":{"name":"Excesso aparente de mineralocorticóides","synonyms":["Deficiência de 11-beta-hidroxiesteroide desidrogenase tipo 2","Hipocalémia hipertensiva recessiva","Síndrome Ulick"],"definition":"O excesso aparente de mineralocorticóides (AME) é uma forma rara de pseudohiperaldosteronismo caracterizado por hipertensão grave e de início precoce, associada a baixos níveis de renina e hipoaldosteronismo."},"pl":{"name":"Pozorny nadmiar mineralokortykoidów","synonyms":["Niedobór dehydrogenazy 11-beta-hydroksysteroidowej","Zespół Ulicka"]},"cs":{"name":"Syndrom zdánlivého nadbytku mineralokortikoidů","synonyms":["Deficit 11-beta-hydroxysteroid dehydrogenázy, typ 2","Ulickův syndrom"]},"uk":{"name":"Виражений надлишок мінералокортикоїдів","synonyms":["Дефіцит 11-бета-гідроксистероїддегідрогенази типу 2","Синдром Уліка"],"definition":"A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism."},"zh":{"name":"显性盐皮质激素过多综合征","synonyms":["11β-羟类固醇脱氢酶缺乏2型"]},"tr":{"name":"Görünür mineralokortikoid fazlalığı","synonyms":["Ulick sendromu","11-beta-hidroksisteroid dehidrojenaz eksikliği tip 2"]}},"xrefs":[{"source":"OMIM","code":"218030","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E26.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A76.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1737310323"},{"source":"MONDO","code":"0009025","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D043204","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342488","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"433","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080229","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":101954,"name":"Rare adrenal disease","classifications":[193]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":183637,"name":"Rare genetic adrenal disease","classifications":[156]},{"orpha":156629,"name":"Rare genetic cause of hypertension","classifications":[156,188]}],"children":[],"genes":[{"symbol":"HSD11B2","name":"hydroxysteroid 11-beta dehydrogenase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10523339[PMID]","hgnc":"5209","ensembl":"ENSG00000176387","omim":"614232","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-03","source":"10536001[PMID]_870517[PMID]_226561[PMID]_17314322[PMID]_20610969[PMID]","terms":[{"hpo":"HP:0003351","label":"Decreased circulating renin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012603","label":"Abnormal urine sodium concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011731","label":"Abnormality of circulating cortisol level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004319","label":"Decreased circulating aldosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001960","label":"Hypokalemic metabolic alkalosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001095","label":"Hypertensive retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012606","label":"Renal sodium wasting","frequency":"Excluded (0%)","criteria":null}]}}