{"orpha":79118,"name":"Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79118/","orphanet_url":"https://www.orpha.net/en/disease/detail/79118","names":{"fr":{"name":"Syndrome de diabète néonatal-hypothyroïdie congénitale-glaucome congénital-fibrose hépatique-polykystose rénale","definition":"Maladie génétique rare caractérisée par un retard de croissance intra-utérin, un diabète sucré néonatal permanent et une hypothyroïdie congénitale. Parmi les autres manifestations, on peut citer le glaucome congénital, certaines maladies hépatiques (hépatite, fibrose et cirrhose), les reins polykystiques, l'insuffisance pancréatique exocrine, la perte auditive neurosensorielle, le retard de développement et une dysmorphie faciale légère (pont nasal aplati, épicanthus, philtrum long et oreilles d'implantation basse), entre autres."},"de":{"name":"Neonataler Diabetes-kongenitale Hypothyreose-kongenitales Glaukom-Leberfibrose-polyzystische Nieren-Syndrom","synonyms":["Diabetes mellitus des Neugeborenen und angeborene Hypothyreose"],"definition":"Eine seltene genetische Störung mit intrauteriner Wachstumsretardierung, permanentem neonatalen Diabetes mellitus und kongenitaler Hypothyreose. Weitere Manifestationen sind u.a. kongenitales Glaukom, Lebererkrankung (Hepatitis, Fibrose und Zirrhose), polyzystische Nieren, exokrine Pankreasinsuffizienz, Innenohrschwerhörigkeit, Entwicklungsverzögerung und leichte Gesichtsdysmorphien (z.B. flacher Nasenrücken, Epikanthusfalten, langes Philtrum und tief angesetzte Ohren)."},"es":{"name":"Síndrome de diabetes neonatal-hipotiroidismo congénito-glaucoma congénito-fibrosis hepática-riñones poliquísticos","definition":"Es una enfermedad de origen genético poco frecuente caracterizada por retraso del crecimiento intrauterino, diabetes mellitus neonatal permanente e hipotiroidismo congénito. Otras manifestaciones adicionales incluyen glaucoma congénito, enfermedad hepática (hepatitis, fibrosis y cirrosis), riñones poliquísticos, insuficiencia pancreática exocrina, discapacidad auditiva neurosensorial, retraso psicomotor y leve dismorfia facial (como puente nasal plano, pliegues epicánticos, filtrum largo y orejas de implantación baja), entre otros."},"it":{"name":"Sindrome diabete neonatale-ipotiroidismo congenito-glaucoma congenito-fibrosi epatica-rene policistico","definition":"Si tratta di una malattia genetica rara, caratterizzata da un ritardo della crescita prenatale, diabete mellito neonatale permanente e ipotiroidismo congenito. I pazienti possono presentare anche glaucoma congenito, epatopatia (epatite, fibrosi e cirrosi), rene policistico, disfunzione pancreatica esocrina, sordità neurosensoriale, ritardo dello sviluppo e dismorfismi facciali sfumati (sella nasale piatta, epicanto, filtro lungo e orecchie a basso impianto)."},"nl":{"name":"Neonatale diabetes - congenitale hypothyreoïdie - congenitaal glaucoom - hepatische fibrose - polycystische nieren","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door intra-uteriene groeiretardatie, permanente neonatale diabetes mellitus, en congenitale hypothyreoïdie. Bijkomende manifestaties zijn onder meer congenitaal glaucoom, leverziekte (hepatitis, fibrose, en cirrose), polycystische nier, disfunctie van exocriene pancreatic, sensorineuraal gehoorverlies, ontwikkelingsachterstand, en milde faciale dysmorfie (zoals platte neusbrug, epicanthusplooien, lang filtrum, en laagstaande oren)."},"pt":{"name":"Síndrome de diabetes neonatal-hipotiroidismo congénito-glaucoma congénito-fibrose hepática-rins poliquísticos"},"pl":{"name":"Cukrzyca noworodkowa - wrodzona niedoczynność tarczycy - jaskra wrodzona - zwłóknienie wątroby - wielotorbielowatość nerek"},"cs":{"name":"Syndrom zahrnující neonatální diabetes, vrozený hypothyroidismus, vrozený glaukom, jaterní fibrózu a polycystické ledviny"},"uk":{"name":"Синдром неонатального діабету-вродженого гіпотиреозу-вродженої глаукоми-фіброзу печінки-полікістозу нирок","definition":"A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others."},"zh":{"name":"新生儿糖尿病-先天性甲状腺功能低下-先天性青光眼-肝纤维化-多囊肾综合征"},"tr":{"name":"Yenidoğan diyabeti-doğumsal hipotiroidi-doğumsal glokom-hepatik fibroz-polikistik böbrek sendromu"}},"xrefs":[{"source":"OMIM","code":"610199","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P70.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1920151776"},{"source":"MONDO","code":"0012436","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510367","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]}],"children":[],"genes":[{"symbol":"GLIS3","name":"GLIS family zinc finger 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16715098[PMID]","hgnc":"28510","ensembl":"ENSG00000107249","omim":"610192","loci":["9p24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"12966531[PMID]_16715098[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12966531[PMID]_16715098[PMID]"}],"phenotypes":null}