{"orpha":1672,"name":"Diencephalic syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Diencephalic cachexia","Diencephalic syndrome of childhood","Diencephalic syndrome of emaciation","Russell diencephalic cachexia","Russell syndrome"],"definition":"Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1672/","orphanet_url":"https://www.orpha.net/en/disease/detail/1672","names":{"fr":{"name":"Syndrome diencéphalique","synonyms":["Cachexie diencéphalique de Russell","Syndrome diencéphalique d'émaciation","Cachexie diencéphalique"],"definition":"Syndrome rare caractérisé par une émaciation profonde et un retard de croissance staturo-pondérale (avec apport calorique normal et croissance linéaire normale), une vigilance accrue, une hyperkinésie et une euphorie, en présence de tumeurs hypothalamiques."},"de":{"name":"Dienzephales Syndrom","synonyms":["Dienzephale Kachexie","Dienzephale Kachexie vom Typ Russell","Dienzephales Abmagerungssyndrom nach Russell","Dienzephalisches Syndrom der Kindheit","Russell-Syndrom"]},"es":{"name":"Síndrome diencefálico","synonyms":["Caquexia diencefálica","Caquexia diencefálica de Russell","Síndrome de Russell","Síndrome de emaciación diencefálica","Síndrome diencefálico de la infancia"],"definition":"El síndrome diencefálico (SD) es una condición poco frecuente caracterizada por emaciación profunda y falta de crecimiento (con una ingesta calórica normal y crecimiento lineal normal), estados de hiperalerta, hiperquinesia y euforia, en presencia de tumores hipotalámicos."},"it":{"name":"Sindrome diencefalica","synonyms":["Cachessia diencefalica","Cachessia diencefalica di Russell","Sindrome di Russell","Sindrome diencefalica da emaciamento","Sindrome diencefalica dell'infanzia"],"definition":"La sindrome diencefalica (DS) è una malattia rara caratterizzata da deperimento grave e ritardo della crescita (con normale apporto calorico e crescita lineare), iperattività, ipercinesia ed euforia, in presenza di tumori dell'ipotalamo."},"nl":{"name":"Diëncefaal syndroom","synonyms":["Diëncefaal syndroom van de kindertijd","Diëncefaal syndroom van vermagering","Diëncefale cachexie","Russell diëncefale cachexie","Syndroom van Russell"],"definition":"Diëncefaalsyndroom (DS) is een zeldzame conditie die gekarakteriseerd wordt door vergaande emaciatie (extreem gewichtsverlies) en groeiachterstand (met normale opname van calorieën en normale lineaire groei), hyperalertheid, hyperkinesie en euforie, in de aanwezigheid van hypothalamische tumoren."},"pt":{"name":"Síndrome diencefálico"},"pl":{"name":"Zespół międzymózgowia","synonyms":["Dziecięcy zespół międzymózgowia","Kacheksja diencefaliczna","Kacheksja diencefaliczna Russella","Zespół Russella"]},"cs":{"name":"Diencefalický syndrom","synonyms":["Diencefalická kachexie","Diencefalický syndrom vyhublosti","Russelova diencefalická kachexie","Diencefalický syndrom dětského věku","Russelův syndrom"]},"uk":{"name":"Діенцефальний синдром","synonyms":["Діенцефальна кахексія","Діенцефальний синдром дитячого віку","Діенцефальний синдром виснаження","Діенцефальна кахексія Рассела","Синдром Рассела"],"definition":"Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors."},"zh":{"name":"间脑综合征","synonyms":["消瘦性间脑综合征"]},"tr":{"name":"Diensefalik sendrom","synonyms":["Russell sendromu","Diensefalik kaşeksi","Russell diensefalik kaşeksi","Çocukluk çağı diensefalik sendromu","Diensefalik zayıflama sendromu"]}},"xrefs":[{"source":"ICD-10","code":"C72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"879659089"},{"source":"MONDO","code":"0015663","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342436","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6276","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087520","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181384,"name":"Rare hypothalamic or pituitary disease","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy"],"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:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004375","label":"Neoplasm of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000040","label":"Long penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}