{"orpha":99885,"name":"Isolated permanent neonatal diabetes mellitus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated PNDM"],"definition":"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99885/","orphanet_url":"https://www.orpha.net/en/disease/detail/99885","names":{"fr":{"name":"Diabète néonatal permanent isolé","synonyms":["DNP isolé"],"definition":"Forme monogénique de diabète néonatal caractérisée généralement par une hyperglycémie persistante au cours des 12 premiers mois de vie, nécessitant un traitement continu à l'insuline."},"de":{"name":"Diabetes mellitus, isolierter neonataler permanenter","synonyms":["PNDM, isolierter"]},"es":{"name":"Diabetes mellitus neonatal permanente aislada","synonyms":["DMNP aislada"],"definition":"La diabetes mellitus neonatal permanente (DMNP) es una forma monogénica de la diabetes neonatal (DMN, ver este término) caracterizada, por lo general, por una hiperglucemia persistente durante los 12 primeros meses de vida que requiere un tratamiento con insulina de forma continua."},"it":{"name":"Diabete mellito neonatale isolato permanente","synonyms":["PNDM isolato"],"definition":"Il diabete mellito neonatale permanente (PNDM) è una forma monogenica di diabete neonatale (NDM; si veda questo termine), caratterizzata, di solito, da iperglicemia persistente prima dei 12 mesi di vita, che richiede una terapia insulinica continua."},"nl":{"name":"Geïsoleerde permanente neonatale diabetes mellitus","synonyms":["Geïsoleerde PNDM"],"definition":"Permanente neonatale diabetes mellitus (PNDM) is een monogenische vorm van neonatale diabetes (NDM; zie deze term) die in het algemeen gekenmerkt wordt door aanhoudende hyperglycemie binnen de eerste 12 levensmaanden, waarbij continue insulinebehandeling vereist is."},"pt":{"name":"Diabetes mellitus neonatal permanente isolado"},"pl":{"name":"Utrwalona cukrzyca noworodkowa","synonyms":["Monogenowa cukrzyca noworodkowa","PNDM"]},"cs":{"name":"Permanentní novorozenecký diabetes mellitus","synonyms":["PNDM","Monogenní diabetes dětského věku"]},"uk":{"name":"Ізольований перманентний неонатальний цукровий діабет","synonyms":["Ізольований PNDM","Моногенний діабет немовлят"],"definition":"Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment."},"zh":{"name":"永久新生儿糖尿病","synonyms":["婴儿单基因糖尿病"],"definition":"永久性新生儿糖尿病(PNDM)是新生儿糖尿病(NDM，见该词条)的一种单基因形式，其特征是通常在出生后12个月内持续高血糖，需要持续的胰岛素治疗。"},"tr":{"name":"Yenidoğanın kalıcı diabetes mellitusu","synonyms":["PNDM","Bebeklik döneminde monojenik diyabet"]}},"xrefs":[{"source":"OMIM","code":"606176","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"618856","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618857","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618858","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P70.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KB60.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"33655955"},{"source":"MONDO","code":"0100164","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563425","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833104","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10457","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":224,"name":"Neonatal diabetes mellitus","classifications":[156,193]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"STAT3","name":"signal transducer and activator of transcription 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"28073828[PMID]","hgnc":"11364","ensembl":"ENSG00000168610","omim":"102582","loci":["17q21.2"]},{"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]_20301620[PMID]","hgnc":"59","ensembl":"ENSG00000006071","omim":"600509","loci":["11p15.1"]},{"symbol":"GCK","name":"glucokinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21844708[PMID]_22498247[PMID]_20301620[PMID]","hgnc":"4195","ensembl":"ENSG00000106633","omim":"138079","loci":["7p13"]},{"symbol":"INS","name":"insulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21844708[PMID]_22498247[PMID]_20301620[PMID]_23245869[PMID]_23107109[PMID]","hgnc":"6081","ensembl":"ENSG00000254647","omim":"176730","loci":["11p15.5"]},{"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]_20301620[PMID]_24150202[PMID]_24468099[PMID]","hgnc":"6257","ensembl":"ENSG00000187486","omim":"600937","loci":["11p15.1"]},{"symbol":"PDX1","name":"pancreatic and duodenal homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301620[PMID]_22498247[PMID]","hgnc":"6107","ensembl":"ENSG00000139515","omim":"600733","loci":["13q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Europe","status":"Validated","source":"19499210[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"19499210[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"United Kingdom","status":"Validated","source":"19499210[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Poland","status":"Validated","source":"19499210[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Netherlands","status":"Validated","source":"19499210[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.46,"area":"Slovakia","status":"Validated","source":"17213273[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"United States","status":"Validated","source":"23050777[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.0,"area":"Oman","status":"Validated","source":"10798084[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-12-07","source":"16885549[PMID]_15448107[PMID]_26231457[PMID]_15115830[PMID]_20938745[PMID]_7637748[PMID]_20301706 [PMID]_17349054[PMID]","terms":[{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011106","label":"Hypovolemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000857","label":"Neonatal insulin-dependent diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006274","label":"Reduced pancreatic beta cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002919","label":"Ketonuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005750","label":"Lower-limb joint contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012594","label":"Microalbuminuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002594","label":"Pancreatic hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000124","label":"Renal tubular dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}