{"orpha":178029,"name":"Arginine vasopressin deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDI","Neurogenic diabetes insipidus"],"definition":"Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178029/","orphanet_url":"https://www.orpha.net/en/disease/detail/178029","names":{"fr":{"name":"Déficit en vasopressine","synonyms":["CDI","DIC","Diabète insipide central","Diabète insipide neurogène"],"definition":"Le diabète insipide d'origine centrale (DIC) est une maladie hypothalamus-pituitaire caractérisée par une polyurie et une polydipsie dues à un déficit en vasopressine. Il peut être hérité ou acquis (DIC héréditaire et DIC acquis)."},"de":{"name":"Arginin-Vasopressin-Mangel","synonyms":["Neurogener Diabetes insipidus"],"definition":"Der Zentrale Diabetes insipidus (CDI) ist eine hypothalamisch-hypophysäre Störung mit Polyurie und Polydipsie als Folge eines Vasopressin (AVP)-Mangels. Er ist entweder vererbt oder erworben."},"es":{"name":"Deficiencia de arginina vasopresina","synonyms":["DIC","Diabetes insipida central","Diabetes insípida neurogénica"],"definition":"La diabetes insípida central (DIC) es una enfermedad hipotalámo-hipofisaria caracterizada por poliuria y polidipsia por déficit de vasopresina (AVP). Puede ser hereditaria o adquirida (DIC hereditaria y DIC adquirida)."},"it":{"name":"Deficit di arginina vasopressina","synonyms":["CDI","Diabete insipido neurogeno"],"definition":"Il diabete insipido centrale (CDI) è una malattia ipotalamica-ipofisaria con poliuria e polidipsia da deficit di vasopressina (AVP). Può essere ereditaria o acquisita (CDI ereditaria e CDI acquisita)."},"nl":{"name":"Deficiëntie van arginine-vasopressine","synonyms":["CDI","Neurogene diabetes insipidus"],"definition":"Centrale diabetes insipidus (CDI) is een hypothalamus-hypofyse-aandoening gekenmerkt door polyurie en polydipsie als gevolg van een vasopressinedeficiëntie (AVP). Het kan aangeboren of verworven zijn (erfelijke CDI en verworven CDI; zie deze termen)."},"pt":{"name":"Deficiência de arginina vasopressina","synonyms":["CDI","Diabetes insipidus neurogénico"],"definition":"A diabetes insípida central (CDI) é uma doença do hipotálamo-hipófise, caracterizada por poliúria e polidipsia, devido a uma deficiência de vasopressina (AVP). Pode ser hereditária ou adquirida (CDI hereditárias e CDI adquiridas; ver esses termos)."},"pl":{"name":"Moczówka prosta ośrodkowa","synonyms":["CDI","Moczówka prosta neurogenna","Niedobór wazopresyny argininowej"]},"cs":{"name":"Centrální diabetes insipidus","synonyms":["CDI","Neurogenní diabetes insipidus"]},"uk":{"name":"Дефіцит аргінін-вазопресину","synonyms":["CDI","Нейрогенний нецукровий діабет"],"definition":"Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms)."},"zh":{"name":"中枢性尿崩症","synonyms":["神经性尿崩症"],"definition":"中枢性尿崩症（CDI）是一种下丘脑-垂体疾病，其主要临床表现为由于血管加压素（AVP）缺乏所致的多尿和多饮，分为以下2类：遗传性和获得性（遗传性CDI和获得性性CDI；见该术语）。"},"tr":{"name":"Santral diabetes insipidus","synonyms":["CDI","Nörojenik diyabet insipidus"]}},"xrefs":[{"source":"OMIM","code":"125700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"304900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1009553897"},{"source":"MONDO","code":"0015790","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020790","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0687720","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6015","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068587","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":95501,"name":"OBSOLETE: Congenital central diabetes insipidus","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":101957,"name":"Pituitary deficiency","classifications":[193]}],"children":[{"orpha":95626,"name":"Acquired arginine vasopressin deficiency","type":"Clinical subtype"},{"orpha":30925,"name":"Hereditary arginine vasopressin deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"AVP","name":"arginine vasopressin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"14673472[PMID]","hgnc":"894","ensembl":"ENSG00000101200","omim":"192340","loci":["20p13"],"via":{"orpha":30925,"name":"Hereditary arginine vasopressin deficiency"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000017","label":"Nocturia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}