{"orpha":443101,"name":"Hypothalamic adipsic hypernatraemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-443101/","orphanet_url":"https://www.orpha.net/en/disease/detail/443101","names":{"fr":{"name":"Syndrome d'hypernatrémie adipsique hypothalamique","definition":"Maladie endocrinienne rare caractérisée par une déshydratation hypernatrémique chronique sévère causée par une diminution de l'apport en eau à la suite d'une altération de la perception de la soif, causée par un déficit isolé du centre de régulation de la soif au niveau de l'hypothalamus. Les patients ne présentent pas de lésions hypothalamiques structurelles et leur sécrétion de l'arginine-vasopressine est normale."},"de":{"name":"Hypothalamisches Adipsie-Hypernatriämie-Syndrom","definition":"Eine seltene endokrine Erkrankung, die durch eine schwere chronische hypernatriämische Dehydratation gekennzeichnet ist, die durch eine verminderte Wasseraufnahme aufgrund eines gestörten Durstempfindens infolge eines selektiven Defekts der hypothalamischen Durst-Osmoregulation verursacht wird. Strukturelle hypothalamische Läsionen sind nicht vorhanden und die Arginin-Vasopressin-Sekretion ist normal."},"es":{"name":"Síndrome de hipernatremia adípsica hipotalámica","definition":"Es una enfermedad endocrina poco frecuente caracterizada por una deshidratación hipernatrémica crónica grave causada por una disminución de la ingesta de agua debida a una percepción alterada de la sed, por un defecto selectivo de la osmorregulación hipotalámica de la sed. No se han descrito lesiones hipotalámicas estructurales y la secreción de arginina vasopresina es normal."},"it":{"name":"Ipernatriemia adipsica ipotalamica","definition":"Si tratta di un'endocrinopatia rara caratterizzata dalla disidratazione ipernatremica cronica grave, causata da una ridotta assunzione di acqua dovuta a un'anomala percezione della sete, secondaria a un difetto selettivo dell'osmoregolazione ipotalamica della sete. I pazienti non presentano lesioni strutturali dell'ipotalamo e la secrezione di arginina vasopressina è normale."},"nl":{"name":"Hypothalamische adipsische hypernatriëmie-syndroom","definition":"Een zeldzame endocriene aandoening, gekarakteriseerd door ernstige chronische hypernatriëmische dehydratie veroorzaakt door verminderde inname van water door verstoorde perceptie van dorst als gevolg van een selectief defect van osmoregulatie van dorst door hypothalamus. Structurele laesies van hypothalamus zijn afwezig en secretie van arginine-vasopressine is normaal."},"pt":{"name":"Síndrome de hipernatrémia adipsica hipotalâmica"},"pl":{"name":"Zespół podwzgórzowej hipernatremii z adypsją"},"cs":{"name":"Syndrom hypotalamické adipsické hypernatrémie"},"uk":{"name":"Синдром гіпоталамічної адипінової гіпернатріємії","definition":"A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal."},"zh":{"name":"下丘脑脂肪性高钠血症综合征"},"tr":{"name":"Hipotalamik adipsik hipernatremi sendromu"}},"xrefs":[{"source":"ICD-10","code":"E23.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018620","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681196","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":252190,"name":"Inherited nervous system cancer-predisposing syndrome","classifications":[181]},{"orpha":181384,"name":"Rare hypothalamic or pituitary disease","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}