{"orpha":30925,"name":"Hereditary arginine vasopressin deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Hereditary CDI","Hereditary neurogenic diabetes insipidus"],"definition":"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-30925/","orphanet_url":"https://www.orpha.net/en/disease/detail/30925","names":{"fr":{"name":"Déficit héréditaire en arginine vasopressine","synonyms":["DIC héréditaire","Diabète insipide neurogène héréditaire"],"definition":"Le diabète insipide central héréditaire est un sous-type rare de diabète insipide central (DIC) caractérisé par une polyurie et une polydipsie dues à un défaut de synthèse de la vasopressine."},"de":{"name":"Hereditärer Arginin-Vasopressin-Mangel","synonyms":["CDI, hereditärer","Diabetes insipidus, neurogener, hereditärer"],"definition":"Der Hereditäre zentrale Diabetes insipidus ist ein seltener genetischer Subtyp des Zentralen Diabetes insipidus (CDI; s. dort) und gekennzeichnet durch Polyurie und Polydipsie als Folge mangelnder Vasopressin (AVP)-Synthese."},"es":{"name":"Deficiencia de arginina vasopresina hereditaria","synonyms":["DIC hereditaria","Diabetes insipida central hereditaria","Diabetes insípida neurogénica hereditaria"],"definition":"La diabetes insípida central hereditaria es un subtipo genético poco frecuente de diabetes insípida central (DIC, ver término) caracterizada por poliuria y polidipsia debido a un déficit de síntesis de vasopresina (AVP)."},"it":{"name":"Deficit ereditario di arginina-vasopressina","synonyms":["CDI ereditario","Diabete insipido neurogeno ereditario"],"definition":"Il diabete insipido centrale ereditario è un sottotipo genetico raro del diabete insipido centrale (CDI; si veda questo termine), caratterizzato da poliuria e polidipsia da difetto nella sintesi della vasopressina (AVP)."},"nl":{"name":"Hereditaire deficiëntie van arginine-vasopressine","synonyms":["Erfelijke CDI","Erfelijke neurogene diabetes insipidus"],"definition":"Erfelijke centrale diabetes insipidus is een zeldzaam genetisch subtype van centrale diabetes insipidus (CDI, zie deze term), gekenmerkt door polyurie en polydipsie als gevolg van een tekort aan vasopressinesynthese (AVP)."},"pt":{"name":"Deficiência de arginina vasopressina hereditária","synonyms":["CDI hereditária","Diabetes insipida neurogénica hereditária central primária"],"definition":"A diabetes insípida central hereditária é um subtipo genético raro de diabetes insípida central (CDI, ver este termo), caracterizada por poliúria e polidipsia devido a uma deficiência na síntese de vasopressina (AVP)."},"pl":{"name":"Dziedziczna moczówka prosta ośrodkowa","synonyms":["Dziedziczna CDI","Dziedziczna moczówka prosta neurogenna","Dziedziczny niedobór wazopresyny argininowej"]},"cs":{"name":"Hereditární centrální diabetes insipidus","synonyms":["Hereditární CDI","Hereditární neurogenní diabetes insipidus"]},"uk":{"name":"Спадковий дефіцит аргінін-вазопресину","synonyms":["Спадковий CDI","Спадковий нейрогенний нецукровий діабет"],"definition":"Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis."},"zh":{"name":"遗传性中枢性尿崩症","synonyms":["遗传性中枢性尿崩症"]},"tr":{"name":"Kalıtsal santral diyabet insipidus","synonyms":["Kalıtsal CDI","Kalıtsal nörojenik diabetes insipidus"]}},"xrefs":[{"source":"OMIM","code":"125700","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"304900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5A61.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1627007407"},{"source":"MONDO","code":"0007450","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680110","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":178029,"name":"Arginine vasopressin deficiency","classifications":[193]},{"orpha":101957,"name":"Pituitary deficiency","classifications":[156]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null}]}}