{"orpha":3145,"name":"Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome"],"definition":"A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3145/","orphanet_url":"https://www.orpha.net/en/disease/detail/3145","names":{"fr":{"name":"Syndrome de résistance à l'arginine vasopressine-calcifications intracrâniennes-petite taille-dysmorphie faciale","synonyms":["Syndrome de diabète insipide néphrogénique-calcifications intracrâniennes-petite taille-dysmorphie faciale"],"definition":"Néphropathie tubulaire génétique rare caractérisée par un diabète insipide néphrogénique, des calcifications intracérébrales, une déficience intellectuelle, une petite taille et une dysmorphie faciale. Aucun cas n'a été décrit dans la littérature depuis 1990."},"de":{"name":"Arginin-Vasopressin-Resistenz-intrakranielle Kalzifikation-Kleinwuchs-Gesichtsdysmorphie-Syndrom","definition":"Eine genetisch bedingte tubuläre Nierenerkrankung, die durch nephrogenen Diabetes insipidus, intrazerebrale Verkalkungen, Intelligenzminderung, Kleinwuchs und Gesichtsdysmorphien gekennzeichnet ist. Seit 1990 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de resistencia a la arginina vasopresina-calcificación intracraneal-talla baja-dismorfia facial","definition":"Es una enfermedad tubular renal genética poco frecuente caracterizada por diabetes insípida nefrogénica, calcificaciones intracerebrales, discapacidad intelectual, talla baja y dismorfia facial. No ha habido más descripciones en la literatura desde 1990."},"it":{"name":"Sindrome resistenza all'arginina vasopressina-calcificazioni intracraniche-bassa statura-dismorfismi facciali","synonyms":["Sindrome diabete insipido nefrogenico-calcificazione intracranica-bassa statura-dismorfismi facciali"]},"nl":{"name":"Resistentie voor arginine-vasopressine - intracraniële calcificatie - kleine gestalte - faciale dysmorfie-syndroom","definition":"Een zeldzame, genetische ziekte van niertubulus, gekarakteriseerd door nefrogene diabetes insipidus, intracerebrale verkalkingen, intellectuele achterstand, kleine gestalte, en faciale dysmorfie. Sinds 1990 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de resistência a arginina vasopressina-calcificação intracraniana-baixa estatura-dismorfia facial"},"pl":{"name":"Cukrzyca nerkowa - wapnienie wewnątrzczaszkowe","synonyms":["Zespół Schofera, Beetza i Bohla","Zespół moczówki prostej nerkopochodnej, zwapnienia wewnątrzczaszkowego, niskiego wzrostu i dysmorfii twarzy","Zespół oporności na wazopresynę argininową, zwapnień wewnątrzczaszkowych, niskorosłości i dysmorfii twarzy"]},"cs":{"name":"Syndrom zahrnující renální diabetes insipidus, intrakraniální kalcifikace, malý vzrůst a faciální dysmorfii","synonyms":["Schoferův-Beetzův-Bohlův syndrom","Schofer-Beetz-Bohlův syndrom"]},"uk":{"name":"Синдром резистентності до аргінін-вазопресину - внутрішньочерепної кальцифікації-низькорослості-дисморфізму обличчя","synonyms":["Синдром нефрогенного цукрового діабету - внутрішньочерепної кальцифікації - низькорослості - дисморфізму обличчя"],"definition":"A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990."},"zh":{"name":"肾性尿崩-颅内钙化-面部畸形综合征"},"tr":{"name":"Nefrojenik diyabet insipidus-intrakraniyal kalsifikasyon-fasiyal dismorfizm sendromu"}},"xrefs":[{"source":"OMIM","code":"221995","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N25.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.4A","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009099","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535949","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931070","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"259","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"24053747[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"24053747[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009806","label":"Nephrogenic diabetes insipidus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null}]}}