{"orpha":224,"name":"Neonatal diabetes mellitus","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Congenital diabetes mellitus","Diabetes of infancy","Monogenic diabetes of infancy","NDM"],"definition":"A group of rare diabetes mellitus characterized by neonatal diabetes mellitus presents with symptoms including hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis (which can be severe and lead coma), in a child within the first months of life. It encompasses several disorders in which diabetus mellitus may be transient or permanent. It may present as an isolated condition or as part of a syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-224/","orphanet_url":"https://www.orpha.net/en/disease/detail/224","names":{"fr":{"name":"Diabète néonatal","definition":"Le diabète néonatal insulino-dépendant est caractérisé par l'apparition durant les premiers mois de vie d'une hyperglycémie, d'un retard staturo-pondéral et, dans certains cas, d'une déshydratation et d'une acidocétose qui peuvent être sévères, jusqu'au coma."},"de":{"name":"Diabetes mellitus, neonataler","synonyms":["Diabetes im Säuglings- und Kleinkindalter","Diabetes mellitus, kongenitaler","Monogener Diabetes des Kindesalters","NDM"]},"es":{"name":"Diabetes mellitus neonatal","synonyms":["Diabetes de la infancia","Diabetes mellitus congénita","Diabetes monogénica de la infancia","NDM"],"definition":"La diabetes mellitus neonatal se presenta como hiperglucemia, fallo de medro y, en algunos casos, deshidratación y cetoacidosis que pueden ser graves con coma, en un niño en los primeros meses de vida."},"it":{"name":"Diabete mellito neonatale","synonyms":["Diabete infantile","Diabete mellito congenito","Diabete monogenico infantile","NDM"]},"nl":{"name":"Neonatale diabetes mellitus","synonyms":["Congenitale diabetes mellitus","Diabetes op zuigelingenleeftijd","Monogenische diabetes op zuigelingenleeftijd","NDM"],"definition":"Neonatale diabetes mellitus presenteert zich als hyperglykemie, niet-gedijen en, in sommige gevallen, dehydratie en ketoacidose die ernstig kan zijn met coma, bij een kind binnen de eerste levensmaanden."},"pt":{"name":"Diabetes mellitus neonatal","synonyms":["Diabetes da infância","Diabetes mellitus congénito","Diabetes monogénico da infância","NDM"]},"pl":{"name":"Cukrzyca noworodków","synonyms":["NDM"]},"cs":{"name":"Novorozenecký diabetes mellitus","synonyms":["NDM"]},"uk":{"name":"Неонатальний цукровий діабет","synonyms":["Вроджений цукровий діабет","Дитячий діабет","Моногенний діабет немовлят","NDM"],"definition":"Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life."},"zh":{"name":"新生儿糖尿病","synonyms":["NDM"]},"tr":{"name":"Yenidoğan diabetes mellitusu","synonyms":["NDM"]}},"xrefs":[{"source":"ICD-10","code":"P70.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"KB60.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1217915084"},{"source":"MONDO","code":"0016391","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16391","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0158981","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10028933","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":101952,"name":"Rare diabetes mellitus","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]}],"children":[{"orpha":79134,"name":"DEND syndrome","type":"Disease"},{"orpha":99989,"name":"Intermediate DEND syndrome","type":"Disease"},{"orpha":99885,"name":"Isolated permanent neonatal diabetes mellitus","type":"Disease"},{"orpha":65288,"name":"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome","type":"Malformation syndrome"},{"orpha":99886,"name":"Transient neonatal diabetes mellitus","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Europe","status":"Not yet validated","source":"21953423[PMID]_19499210[PMID]_20546293[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Italy","status":"Validated","source":"21953423[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.12,"area":"Germany","status":"Validated","source":"20546293[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.62,"area":"Austria","status":"Validated","source":"19496964[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}