{"orpha":1926,"name":"Diabetic embryopathy","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Diabetes-induced teratogenicity"],"definition":"A rare teratologic disease characterized by a range of congenital anomalies associated with poorly controlled maternal diabetes, frequently including abnormalities of the cardiovascular or central nervous system as well as other organ systems, such as skeletal and craniofacial systems. In addition to embryopathy, uncontrolled maternal diabetes can lead to fetal/neonatal complications (including metabolic, respiratory or delivery complications).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1926/","orphanet_url":"https://www.orpha.net/en/disease/detail/1926","names":{"fr":{"name":"Embryopathie diabétique","definition":"Maladie tératologique rare caractérisée par une série d'anomalies congénitales associées à un diabète maternel mal contrôlé, comprenant fréquemment des anomalies du système cardiovasculaire ou du système nerveux central, ainsi que d'autres systèmes organiques, tels que les systèmes squelettique et craniofacial. Outre l'embryopathie, un diabète maternel non contrôlé peut entraîner des complications foetales/néonatales (y compris des complications métaboliques, respiratoires ou des complications pendant l'accouchement)."},"de":{"name":"Diabetische Embryopathie","synonyms":["Diabetes-induzierte Teratogenität","Diabetische Fetopathie","Embryopathia diabetica"],"definition":"Eine seltene teratologische Erkrankung, die durch eine Reihe von angeborenen Anomalien gekennzeichnet ist, die mit schlecht eingestelltem mütterlichem Diabetes einhergehen und häufig Anomalien des Herz-Kreislauf- oder Zentralnervensystems sowie anderer Organsysteme, wie z. B. des Skelett- und des kraniofazialen Systems, umfassen. Zusätzlich zur Embryopathie kann unkontrollierter mütterlicher Diabetes zu fetalen/neonatalen Komplikationen (einschließlich Stoffwechsel-, Atemwegs- oder Geburtskomplikationen) führen."},"es":{"name":"Embriopatía diabética","synonyms":["Teratogenicidad inducida por diabetes"],"definition":"Es una enfermedad teratológica poco frecuente caracterizada por una variedad de anomalías congénitas asociadas a una diabetes materna mal controlada, que frecuentemente incluye anomalías del sistema cardiovascular o nervioso central, así como de otros sistemas orgánicos, como el sistema esquelético y craneofacial. Además de la embriopatía, la diabetes materna no controlada puede provocar complicaciones fetales/neonatales (incluyendo complicaciones metabólicas, respiratorias o del parto)."},"it":{"name":"Embriopatia diabetica","synonyms":["Teratogenicità indotta dal diabete"]},"nl":{"name":"Diabetische embryopathie","synonyms":["Door diabetes geïnduceerde teratogeniciteit"],"definition":"Een zeldzame teratologische aandoening, gekenmerkt door een waaier van congenitale anomalieën geassocieerd met slecht gecontroleerde maternale diabetes, vaak met afwijkingen van het cardiovasculaire stelsel of het centrale zenuwstelsel alsook andere orgaansystemen, zoals skelet en craniofaciaal systeem. Bovenop embryopathie kan ongecontroleerde maternale diabetes leiden tot foetale/neonatale complicaties (waaronder metabole of respiratoire complicaties, of complicaties bij de bevalling)."},"pt":{"name":"Embriopatia diabética"},"pl":{"name":"Embriopatia cukrzycowa","synonyms":["Diabetes-induced teratogenicity"]},"cs":{"name":"Diabetická embryopatie","synonyms":["Diabetes-induced teratogenicity"]},"uk":{"name":"Діабетична ембріопатія","definition":"A rare disorder characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother."},"zh":{"name":"糖尿病性胚胎病"},"tr":{"name":"Diyabetik embriyopati"}},"xrefs":[{"source":"ICD-10","code":"P70.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KB60.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"778367655"},{"source":"MONDO","code":"0016018","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3830518","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":251535,"name":"Maternal disease-related embryofetopathy","classifications":[147,216]},{"orpha":217598,"name":"Non-familial hypertrophic cardiomyopathy","classifications":[146,233]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147]},{"orpha":138059,"name":"Teratogenic Pierre Robin syndrome","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010301","label":"Spinal dysraphism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Occasional (29-5%)","criteria":null}]}}