{"orpha":99886,"name":"Transient neonatal diabetes mellitus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["TNDM"],"definition":"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99886/","orphanet_url":"https://www.orpha.net/en/disease/detail/99886","names":{"fr":{"name":"Diabète néonatal transitoire","synonyms":["DNT"],"definition":"Forme génétiquement hétérogène de diabète néonatal, caractérisée par une hyperglycémie se manifestant pendant la période néonatale, avec une période de rémission pendant la petite enfance suivie d'une récidive à un stade ultérieur de la vie chez la plupart des patients."},"de":{"name":"Diabetes mellitus, neonataler transienter","synonyms":["TNDM"]},"es":{"name":"Diabetes mellitus neonatal transitoria","synonyms":["TNDM"],"definition":"La diabetes mellitus neonatal transitoria (DMNT) es una forma genéticamente heterogénea de diabetes neonatal (DMN, ver este término) caracterizada por hiperglucemia de presentación en el período neonatal y que remite durante la infancia, reapareciendo en la mayoría de los pacientes en etapas posteriores de la vida."},"it":{"name":"Diabete mellito neonatale transitorio","synonyms":["TNDM"],"definition":"Il diabete mellito neonatale transitorio (TNDM) è una forma geneticamente eterogenea di diabete neonatale (NDM; si veda questo termine), caratterizzata da iperglicemia ad esordio neonatale che scompare nel corso dell'infanzia, per ricomparire nella maggior parte dei pazienti nell'età più avanzata."},"nl":{"name":"Transiënte neonatale diabetes mellitus","synonyms":["TNDM"],"definition":"Voorbijgaande neonatale diabetes mellitus (TNDM) is een genetisch heterogene vorm van neonatale diabetes (NDM; zie deze term) die gekenmerkt wordt door hyperglycemie in de neonatale periode die afneemt tijdens de eerste levensjaren maar bij de meeste patiënten later in het leven terugkeert."},"pt":{"name":"Diabetes mellitus neonatal transitória","synonyms":["TNDM"]},"pl":{"name":"Przemijająca cukrzyca noworodkowa","synonyms":["TNDM"]},"cs":{"name":"Tranzientní novorozenecký diabetes mellitus","synonyms":["TNDM"]},"uk":{"name":"Транзиторний неонатальний цукровий діабет","synonyms":["TNDM"],"definition":"Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients."},"zh":{"name":"新生儿短暂性糖尿病","synonyms":["TNDM"],"definition":"暂时性新生儿糖尿病(TNDM)是一种遗传异质性的新生儿糖尿病(NDM)，其特征是在新生儿期出现高血糖，大多数患者在婴儿期缓解，但在以后的生活中复发。"},"tr":{"name":"Yenidoğanın geçici diabetes mellitusu","synonyms":["TNDM"]}},"xrefs":[{"source":"OMIM","code":"601410","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"610374","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610582","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P70.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KB60.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1596856936"},{"source":"UMLS","code":"C0342273","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1839","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":641343,"name":"Imprinting disorders","classifications":[156]},{"orpha":224,"name":"Neonatal diabetes mellitus","classifications":[156,193]}],"children":[],"genes":[{"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":"21844708[PMID]_22498247[PMID]_21738553[PMID]","hgnc":"59","ensembl":"ENSG00000006071","omim":"600509","loci":["11p15.1"]},{"symbol":"HYMAI","name":"hydatidiform mole associated and imprinted","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301706[PMID]_21844708[PMID]_20803656[PMID]","hgnc":"5326","ensembl":"ENSG00000283122","omim":"606546","loci":["6q24.2"]},{"symbol":"KCNJ11","name":"potassium inwardly rectifying channel subfamily J member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21844708[PMID]_22498247[PMID]_21352428[PMID]","hgnc":"6257","ensembl":"ENSG00000187486","omim":"600937","loci":["11p15.1"]},{"symbol":"PLAGL1","name":"PLAG1 like zinc finger 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301706[PMID]_21844708[PMID]_20803656[PMID]","hgnc":"9046","ensembl":"ENSG00000118495","omim":"603044","loci":["6q24.2"]},{"symbol":"ZFP57","name":"ZFP57 zinc finger protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301706[PMID]_22498247[PMID]_23150280[PMID]_23499433[PMID]","hgnc":"18791","ensembl":"ENSG00000204644","omim":"612192","loci":["6p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-25","source":"20301706[PMID]_29662264[PMID]_27809389[PMID]","terms":[{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040216","label":"Hypoinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004904","label":"Maturity-onset diabetes of the young","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008255","label":"Transient neonatal diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001953","label":"Diabetic ketoacidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}