{"orpha":99989,"name":"Intermediate DEND syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form"],"definition":"A rare genetic neonatal diabetes mellitus syndrome characterized by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy. Is it a less severe form of DEND syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99989/","orphanet_url":"https://www.orpha.net/en/disease/detail/99989","names":{"fr":{"name":"Syndrome DEND intermédiaire","synonyms":["Syndrome de retard de développement-épilepsie-diabète néonatal, forme intermédiaire"],"definition":"Syndrome génétique rare de diabète néonatal caractérisé par un diabète néonatal insulino-dépendant, un léger retard moteur, de langage ou cognitif, et l'absence d'épilepsie. Il s'agit d'une forme moins sévère du syndrome DEND."},"de":{"name":"Intermediäres DEND-Syndrom","synonyms":["Entwicklungsverzögerung-Epilepsie-neonataler Diabetes-Syndrom, intermediäre Form"],"definition":"Ein genetisch bedingtes neonatales Diabetes mellitus-Syndrom, das eine Variante des DEND-Syndroms darstellt und klinisch durch einen neonatalen insulinabhängigen Diabetes mellitus, eine leichte motorische, sprachliche oder kognitive Verzögerung und das Fehlen einer Epilepsie gekennzeichnet ist."},"es":{"name":"Síndrome intermedio DEND","synonyms":["Síndrome de retraso del crecimiento-epilepsia-diabetes neonatal, forma intermedia"],"definition":"Es un síndrome de diabetes mellitus neonatal, poco frecuente y de base genética, caracterizado por diabetes mellitus neonatal dependiente de insulina, discreto retraso motor, del habla o cognitivo y ausencia de epilepsia. Es una forma menos grave del síndrome DEND."},"it":{"name":"Sindrome DEND intermedia","synonyms":["Sindrome ritardo dello sviluppo-epilessia-diabete neonatale, forma intermedia"]},"nl":{"name":"Intermediair DEND-syndroom","synonyms":["Ontwikkelingsachterstand - epilepsie - neonatale diabetes-syndroom, intermediaire vorm"],"definition":"Een zeldzaam genetisch syndroom van neonatale diabetes mellitus, gekenmerkt door neonatale insulineafhankelijke diabetes mellitus, milde motorische, spraak- of cognitieve achterstand, en afwezigheid van epilepsie. Het is een minder ernstige vorm van DEND-syndroom."},"pt":{"name":"Síndrome DEND intermédio","definition":"Síndrome rara de diabetes mellitus neonatal genética caracterizada por diabetes mellitus neonatal dependente de insulina, atraso motor, de fala ou cognitivo leve e ausência de epilepsia. É uma forma menos grave da síndrome DEND."},"pl":{"name":"Pośredni zespół DEND","synonyms":["Zespół opóźnienia w rozwoju, padaczki i cukrzycy noworodków, postać pośrednia"],"definition":"Rzadki, genetycznie uwarunkowany zespół cukrzycy noworodkowej, charakteryzujący się noworodkową cukrzycą insulinozależną, łagodnym opóźnieniem rozwoju ruchowego, poznawczego i mowy oraz niewystępowaniem padaczki. Jest to mniej nasilona postać zespołu DEND."},"cs":{"name":"Středně závažný DEND syndrom","synonyms":["Středně závažná forma syndromu zahrnujícího opožděný vývoj, epilepsii a novorozenecký diabetes"]},"uk":{"name":"Помірно виражений синдром DEND","synonyms":["Синдром затримки розвитку-епілепсія-неонатальний діабет, проміжна форма"],"definition":"A rare genetic neonatal diabetes mellitus syndrome characterized by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy. Is it a less severe form of DEND syndrome."},"zh":{"name":"中度DEND综合征","synonyms":["中间型发育迟缓-癫痫-新生儿糖尿病综合征"],"definition":"中间型DEND综合征(IDEND)是一种罕见的轻度DEND综合征(见该词条)，包括新生儿糖尿病、发育迟缓和癫痫状态。中间形式的临床特征是轻度运动、言语或认知延迟，没有癫痫。"},"tr":{"name":"Orta düzey DEND sendromu","synonyms":["Gelişme geriliği-epilepsi-yenidoğan diyabet sendromu, ara form"]}},"xrefs":[{"source":"ICD-10","code":"P70.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KB60.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020569","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680423","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":224,"name":"Neonatal diabetes mellitus","classifications":[156,193]}],"children":[],"genes":[{"symbol":"KCNJ11","name":"potassium inwardly rectifying channel subfamily J member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":null,"hgnc":"6257","ensembl":"ENSG00000187486","omim":"600937","loci":["11p15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}