Klinische FragestellungDiabetes mellitus, transient neonatal; Differentialdiagnose

NGS +

Diabetes mellitus bei Neugeborenen: Hyperglykämie, Gedeihstörung, in einigen Fällen Dehydrierung + Ketoazidose, die mit Koma schwerwiegend sein kann, bei einem Kind innerhalb der ersten Lebensmonate

• Alias: (6q24-related) transient neonatal diabetes mellitus
• Allelic: Atrial septal defect 2 (GATA4)
• Allelic: Atrial septal defect 9 (GATA6)
• Allelic: Atrioventricular septal defect 4 (GATA4)
• Allelic: Atrioventricular septal defect 5 (GATA6)
• Allelic: Diabetes mellitus, insulin-dependent, 2 (INS)
• Allelic: Diabetes mellitus, noninsulin-dependent (ABCC8)
• Allelic: Diabetes mellitus, noninsulin-dependent [panelapp] (SLC2A2)
• Allelic: Diabetes mellitus, noninsulin-dependent, late onset (GCK)
• Allelic: Diabetes mellitus, permanent neonatal (ABCC8)
• Allelic: Diabetes mellitus, permanent neonatal, with neurologic features (KCNJ11)
• Allelic: Diabetes mellitus, transient neonatal 2 (ABCC8)
• Allelic: Diabetes mellitus, transient neonatal, 3 (KCNJ11)
• Allelic: Diabetes mellitus, type 2, susceptibility to (KCNJ11)
• Allelic: Diabetes mellitus, type II, susceptibility to (PDX1)
• Allelic: Diabetes, permanent neonatal (KCNJ11)
• Allelic: Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
• Allelic: Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
• Allelic: Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
• Allelic: Hyperproinsulinemia (INS)
• Allelic: Hypoglycemia of infancy, leucine-sensitive (ABCC8)
• Allelic: MODY, type II (GCK)
• Allelic: MODY, type IV (PDX1)
• Allelic: Maturity-onset diabetes of the young, type 10 (INS)
• Allelic: Neonatal diabetes mellitus [MONDO:0016391] (SLC2A2)
• Allelic: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome [MONDO:0010802] (GATA4)
• Allelic: Permanent Neonatal diabetes mellitus [MONDO:010016] (INS)
• Allelic: Permanent neonatal diabetes mellitus [MONDO:0100164] (HNF1B)
• Allelic: Permanent neonatal diabetes mellitus [MONDO:0100164] (SLC2A2)
• Allelic: Permanent neonatal diabetes melllitus [MONDO:0100164] (GATA4)
• Allelic: Persistent truncus arteriosus (GATA6)
• Allelic: Renal cell carcinoma (HNF1B)
• Allelic: Testicular anomalies with/-out congenital heart disease (GATA4)
• Allelic: Tetralogy of Fallot (GATA4)
• Allelic: Tetralogy of Fallot (GATA6)
• Allelic: Type 2 diabetes mellitus (HNF1B)
• Allelic: Ventricular septal defect 1 (GATA4)
• Diabetes mellitus, neonatal, with congenital hypothyroidism (GLIS3)
• Diabetes mellitus, permanent neonatal 1 (GCK)
• Diabetes mellitus, permanent neonatal 4 (INS)
• Diabetes mellitus, transient neonatal, 1 (ZFP57)
• Fanconi-Bickel syndrome (SLC2A2)
• Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
• Mitchell-Riley s. [neonat. diab., pancr. hypoplasia, intest. atresia, gallbladder a-/hypopl.] (RFX6)
• Neonatal diabetes mellitus [MONDO:0016391] (GATA6)
• Pancreatic + cerebellar agenesis (PTF1A)
• Pancreatic agenesis + congenital heart defects (GATA6)
• Pancreatic agenesis 1 (PDX1)
• Pancreatic agenesis 2 (PTF1A)
• Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802 (GATA4)
• Permanent neonatal diabetes melllitus, MONDO:0100164 (GATA4)
• Testicular anomalies +/- congenital heart disease (GATA4)
• Transient neonatal diabetes mellitus (disease), MONDO:0020525 (GATA4)
• Transient neonatal diabetes mellitus [MONDO:0020525] (GATA4)
• Transient neonatal diabetes mellitus [MONDO:0020525] (HNF1B)
• Transient neonatal diabetes mellitus [MONDO:0020525] (SLC2A2)
• Transient neonatal diabetes mellitus, AD/AR [MONDO:0020525] (INS)
• Transient neonatal diabetes mellitus, AR [MONDO:0020525] (GCK)
• Transient neonatal diabetes, PLAGL1 gene in 6q24 region: hypomethylation, variable (PLAGL1)
• Transient neonatal diabetes, pancreatic atrophy, mild exocrine insufficiency, low BW (HNF1B)
• Wolcott-Rallison syn. [ins-dep. diabetes, epiphys. dysplas., osteoporosis, growth retard.] (EIF2AK3)
• Wolcott-Rallison syndrome, includes onset of diabetes in neonatal period/early infancy (EIF2AK3)