{"orpha":223,"name":"Arginine vasopressin resistance","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Nephrogenic diabetes insipidus"],"definition":"A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-223/","orphanet_url":"https://www.orpha.net/en/disease/detail/223","names":{"fr":{"name":"Résistance à la vasopressine","synonyms":["Diabète insipide néphrogénique"],"definition":"Néphropathie tubulaire génétique rare caractérisée par une polyurie avec polydipsie, des poussées de fièvre récurrentes, une constipation et une déshydratation hypernatrémique aiguë après la naissance pouvant entraîner des séquelles neurologiques."},"de":{"name":"Arginin-Vasopressin-Resistenz","definition":"Der Nephrogene Diabetes insipidus (NDI) ist eine genetisch bedingte tubuläre Störung der Niere, die durch Polyurie mit Polydipsie, wiederkehrende Fieberschübe, Verstopfung und akute hypernatriämische Dehydratation nach der Geburt gekennzeichnet ist und neurologische Folgen haben kann."},"es":{"name":"Resistencia a la arginina vasopresina","definition":"Es una enfermedad tubular renal genética minoritaria, se caracteriza por poliuria con polidipsia, episodios recurrentes de fiebre, estreñimiento y deshidratación hipernatrémica aguda después del nacimiento que puede ocasionar secuelas neurológicas."},"it":{"name":"Resistenza all'arginina vasopressina","synonyms":["Diabete insipido nefrogenico"],"definition":"Il diabete insipido nefrogenico (DIN) è una malattia genetica rara dei tubuli renali, caratterizzata da poliuria con polidipsia, episodi febbrili ricorrenti, costipazione e disidratazione ipernatremica acuta dopo la nascita, che può causare sequele neurologiche."},"nl":{"name":"Resistentie voor arginine-vasopressine","definition":"Een zeldzame, genetische aandoening van niertubuli, gekarakteriseerd door polyurie met polydipsie, terugkerende koortsaanvallen, constipatie, en acute hypernatriëmische dehydratie na de geboorte die neurologische restverschijnselen kan veroorzaken."},"pt":{"name":"Resistência a arginina vasopressina"},"pl":{"name":"Moczówka prosta nefrogenna","synonyms":["Oporność na wazopresynę argininową"]},"cs":{"name":"Nefrogenní diabetes insipidus","synonyms":["Nephrogenic diabetes insipidus"]},"uk":{"name":"Резистентність до аргініну вазопресину","synonyms":["Нефрогенний цукровий діабет"],"definition":"A rare, genetic renal tubular disease that is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae."},"zh":{"name":"肾性尿崩症"},"tr":{"name":"Nefrojenik diyabet insipidus"}},"xrefs":[{"source":"OMIM","code":"125800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"304800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N25.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"GB90.4A","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1417669099"},{"source":"MONDO","code":"0016383","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018500","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162283","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7178","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10029147","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":"AQP2","name":"aquaporin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301356[PMID]","hgnc":"634","ensembl":"ENSG00000167580","omim":"107777","loci":["12q13.12"]},{"symbol":"AVPR2","name":"arginine vasopressin receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301356[PMID]","hgnc":"897","ensembl":"ENSG00000126895","omim":"300538","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.44,"area":"Specific population","status":"Validated","source":"10820168[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-25","source":"1356229[PMID]_8479491[PMID]_8479490[PMID]_7537863[PMID]_9649557[PMID]_9831428[PMID]_16461963[PMID]_25211589[PMID]_11853799[PMID]_12241956[PMID]_12050236[PMID]_11232028[PMID]_10770218[PMID]_9822112[PMID]_14397883[PMID]","terms":[{"hpo":"HP:0009806","label":"Nephrogenic diabetes insipidus","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003228","label":"Hypernatremia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004906","label":"Hypernatremic dehydration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003158","label":"Hyposthenuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011106","label":"Hypovolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010677","label":"Enuresis nocturna","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very rare (<4-1%)","criteria":null}]}}