{"orpha":79134,"name":"DEND syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Developmental delay-epilepsy-neonatal diabetes syndrome"],"definition":"A rare form of neonatal diabetes mellitus characterized by a triad of Developmental delay, Epilepsy, and Neonatal Diabetes (DEND syndrome), with a generally severe course. This form of neonatal diabetes is not associated with abnormal pancreatic development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79134/","orphanet_url":"https://www.orpha.net/en/disease/detail/79134","names":{"fr":{"name":"Syndrome DEND","synonyms":["Syndrome de retard de développement-épilepsie-diabète néonatal"],"definition":"Forme rare de diabète néonatal caractérisée par la triade retard de développement, épilepsie et diabète néonatal (syndrome DEND pour Developmental delay, Epilepsy, and Neonatal Diabetes), dont l'évolution est généralement sévère. Cette forme de diabète néonatal n'est pas associée à un développement anormal du pancréas."},"de":{"name":"DEND-Syndrom","synonyms":["Entwicklungsverzögerung-Epilepsie-neonataler Diabetes-Syndrom"],"definition":"Eine seltene Form des neonatalen Diabetes mellitus, die durch eine Trias aus Entwicklungsverzögerung, Epilepsie und neonatalem Diabetes (DEND-Syndrom) gekennzeichnet ist und im Allgemeinen einen schweren Verlauf aufweist. Diese Form des Neugeborenen-Diabetes ist nicht mit einer abnormen Entwicklung der Bauchspeicheldrüse verbunden."},"es":{"name":"Síndrome DEND","synonyms":["Síndrome de retraso del crecimiento-epilepsia-diabetes neonatal"],"definition":"Es una forma poco frecuente de diabetes mellitus neonatal caracterizada por la tríada de retraso del desarrollo, epilepsia y diabetes neonatal (síndrome DEND), con un curso generalmente grave. Esta forma de diabetes neonatal no está asociada a un desarrollo pancreático anómalo."},"it":{"name":"Sindrome DEND","synonyms":["Sindrome ritardo dello sviluppo-epilessia-diabete neonatale"]},"nl":{"name":"DEND-syndroom","synonyms":["Ontwikkelingsachterstand - epilepsie - neonatale diabetes-syndroom"],"definition":"Een zeldzame vorm van neonatale diabetes mellitus, gekenmerkt door de triade van ontwikkelingsachterstand, epilepsie, en neonatale diabetes (DEND-syndroom), met een over het algemeen ernstig verloop. Deze vorm van neonatale diabetes is niet geassocieerd met abnormale ontwikkeling van de pancreas."},"pt":{"name":"Síndrome DEND","synonyms":["Síndrome de perturbação do desenvolvimento-epilepsia-diabetes neonatal"],"definition":"Forma rara de diabetes mellitus neonatal caracterizada por uma tríade de atraso no desenvolvimento, epilepsia e diabetes neonatal (síndrome DEND), com uma evolução geralmente grave. Esta forma de diabetes neonatal não está associada ao desenvolvimento pancreático anómalo."},"pl":{"name":"Zespół DEND","synonyms":["Zespół opóźnienia w rozwoju, padaczki i cukrzycy noworodków"]},"cs":{"name":"DEND syndrom","synonyms":["Syndrom zahrnující opoždění vývoje, epilepsii a neonatální diabetes"]},"uk":{"name":"Синдром DEND","synonyms":["Синдром затримки розвитку - епілепсії - неонатального діабету"],"definition":"DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes."},"zh":{"name":"DEND综合征","synonyms":["发育迟缓-癫痫-新生儿糖尿病综合征"]},"tr":{"name":"DEND sendromu","synonyms":["Gelişme geriliği-epilepsi-yenidoğan diyabet sendromu"]}},"xrefs":[{"source":"OMIM","code":"606176","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P70.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KB60.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"31390672"},{"source":"MONDO","code":"0019207","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303593","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":"22498247[PMID]_17652641[PMID]_22145471[PMID]_23382304[PMID]_24150202[PMID]_24912436[PMID]","hgnc":"6257","ensembl":"ENSG00000187486","omim":"600937","loci":["11p15.1"]},{"symbol":"ABCC8","name":"ATP binding cassette subfamily C member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22498247[PMID]_21109997[PMID]","hgnc":"59","ensembl":"ENSG00000006071","omim":"600509","loci":["11p15.1"]},{"symbol":"NARS2","name":"asparaginyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35703918[PMID]","hgnc":"26274","ensembl":"ENSG00000137513","omim":"612803","loci":["11q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"16670688[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-11","source":"16670688[PMID]_15448107[PMID]_17259376[PMID]_15115830[PMID]","terms":[{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0040217","label":"Elevated hemoglobin A1c","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040025","label":"Clinodactyly of the 4th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009894","label":"Thickened ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}