{"orpha":93606,"name":"Nephrogenic syndrome of inappropriate antidiuresis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NSIAD"],"definition":"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93606/","orphanet_url":"https://www.orpha.net/en/disease/detail/93606","names":{"fr":{"name":"Syndrome néphrogénique d'antidiurèse inappropriée","synonyms":["NSIAD"],"definition":"Le syndrome néphrogénique d'antidiurèse inappropriée (SNAI) est un trouble génétique rare de l'équilibre hydrique, se rapprochant du syndrome de sécrétion d'antidiurèse inappropriée beaucoup plus fréquent, et caractérisé par une hyponatrémie hypotonique euvolémique due à une déficience de l'excrétion de l'eau libre et des taux indétectables ou bas de vasopressine arginine (plasmatique)."},"de":{"name":"Nephrogenes Syndrom mit unverhältnismäßiger Antidiurese","synonyms":["NSIAD"],"definition":"Das Nephrogene Syndrom mit unverhältnismäßiger Antidiurese (NSIAD) ist eine seltene genetische Störung des Wasserhaushaltes, die dem weitaus häufigeren Syndrom der unverhältnismäßigen Sezernierung von Antidiuretischem Hormon (SIADH) ähnelt. Das Syndrom ist gekennzeichnet durch euvolämische hypotone Hyponatriämie als Folge einer gestörten Ausscheidung von freiem Wasser bei erniedrigtem oder nicht messbarem Arginin-Vasopressin (AVP)-Plasmaspiegel."},"es":{"name":"Síndrome nefrogénico de antidiuresis inapropiada (NSIAD)","definition":"El síndrome nefrogénico de antidiuresis inapropiada (NSIAD) es un raro trastorno genético del equilibrio hídrico, muy parecido al síndrome de secreción antidiurética inapropiada (SIADH) que es mucho más frecuente, y se caracteriza por una hiponatremia hipotónica euvolémica debida a un fallo en la excreción de agua libre y niveles bajos o indetectables de hormona antidiurética (ADH) en plasma."},"it":{"name":"Sindrome nefrogenica da antidiuresi non appropriata","synonyms":["NSIAD"],"definition":"La sindrome nefrogenica da antidiuresi non appropriata (NSIAD) è una malattia genetica rara del bilancio idrico, simile alla più frequente sindrome da inappropriata secrezione dell'ormone antidiuretico (SIADH); è caratterizzata da iponatriemia ipotonica euvolemica da escrezione anomala dell'acqua libera e da livelli non misurabili o bassi di arginina-vasopressina plasmatica (AVP)."},"nl":{"name":"Nefrogeen syndroom van inadequate antidiurese","synonyms":["NSIAD"],"definition":"Nefrogeen syndroom van inadequate antidiurese (NSIAD) is een zeldzame genetische aandoening van waterbalans, sterk gelijkend op het veel frequentere syndroom van inadequate secretie van antidiuretisch hormoon (SIAD), en gekenmerkt door euvolemische hypotone hyponatriëmie door verstoorde excretie van vrij water en ondetecteerbare of lage gehaltes van arginine-vasopressine (AVP) in plasma."},"pt":{"name":"Síndrome nefrogénico de antidiurese inapropriada (NSIAD)"},"pl":{"name":"Zespół nerczycowy z nieprawidłową antydiurezą","synonyms":["NSIAD"]},"cs":{"name":"Nefrogenní syndrom s nepřiměřenou antidiurézou","synonyms":["NSIAD"]},"uk":{"name":"Нефрогенний синдром неадекватного антидіурезу","synonyms":["NSIAD"],"definition":"Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels."},"zh":{"name":"抗利尿不适当肾病综合征","synonyms":["NSIAD"],"definition":"肾源性抗利尿激素不适当分泌综合征（NSIAD）是一种罕见的水平衡紊乱的遗传性疾病，与更常见的抗利尿激素不适当分泌综合征（SIAD）非常相似，其特征是低血容量性低钠血症，这是由游离水排泄障碍、血浆精氨酸加压素（AVP）水平不可检测或较低导致。"},"tr":{"name":"Uygunsuz antidiürezin nefrojenik sendromu","synonyms":["NSIAD"]}},"xrefs":[{"source":"OMIM","code":"300539","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E22.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A60.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"808905140"},{"source":"MONDO","code":"0010356","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564491","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845202","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10306","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[],"genes":[{"symbol":"AVPR2","name":"arginine vasopressin receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"17229917[PMID]","hgnc":"897","ensembl":"ENSG00000126895","omim":"300538","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"22722264[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}