Klinische FragestellungDiabetes mellitus, monogen mit Zusatzsymptomen; Differentialdiagnose

NGS +

• Allelic: Agammaglobulinemia 7, AR (PIK3R1)
• Allelic: Alzheimer disease, susceptibility to (HFE)
• 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: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Carotid intimal medial thickness 1 (PPARG)
• Allelic: Cataract 41 (WFS1)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Colorectal cancer, susceptibility to, 10 (POLD1)
• Allelic: Deafness, AD 6/14/38 (WFS1)
• Allelic: Deafness, AD 71 (DMXL2)
• Allelic: Developmental + epileptic encephalopathy 81 (DMXL2)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hepatic adenoma, somatic (HNF1A)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
• Allelic: Hypoglycemia of infancy, leucine-sensitive (ABCC8)
• Allelic: Immunodeficiency 36 (PIK3R1)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Neuropathy, distal hereditary motor, type VC (BSCL2)
• Allelic: Persistent truncus arteriosus (GATA6)
• Allelic: Porphyria cutanea tarda, susceptibility to (HFE)
• Allelic: Porphyria variegata, susceptibility to (HFE)
• Allelic: Renal cell carcinoma (HNF1A)
• Allelic: Renal cell carcinoma (HNF1B)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Silver spastic paraplegia syndrome (BSCL2)
• Allelic: Tetralogy of Fallot (GATA4)
• Allelic: Tetralogy of Fallot (GATA6)
• Allelic: Transferrin serum level QTL2 (HFE)
• Allelic: Ventricular septal defect 1 (GATA4)
• Alstrom syndrome (ALMS1)
• Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
• Currarino syndrome (MNX1)
• Diabetes mellitus, insulin-dependent (HNF1A)
• Diabetes mellitus, insulin-dependent, 2 (INS)
• Diabetes mellitus, insulin-dependent, 20 (HNF1A)
• Diabetes mellitus, insulin-resistant, with acanthosis nigricans (INSR)
• Diabetes mellitus, neonatal, with congenital hypothyroidism (GLIS3)
• Diabetes mellitus, noninsulin-dependent (ABCC8)
• Diabetes mellitus, noninsulin-dependent (HNF4A)
• Diabetes mellitus, noninsulin-dependent (SLC2A2)
• Diabetes mellitus, noninsulin-dependent, 2 (HNF1A)
• Diabetes mellitus, noninsulin-dependent, association with (WFS1)
• Diabetes mellitus, noninsulin-dependent, late onset (GCK)
• Diabetes mellitus, permanent neonatal 1 (GCK)
• Diabetes mellitus, permanent neonatal 3, with/-out neurologic features (ABCC8)
• Diabetes mellitus, permanent neonatal 4 (INS)
• Diabetes mellitus, transient neonatal 1 (ZFP57)
• Diabetes mellitus, transient neonatal 2 (ABCC8)
• Diabetes mellitus, transient neonatal 3 (KCNJ11)
• Diabetes mellitus, type 2, susceptibility to (KCNJ11)
• Diabetes mellitus, type II, susceptibility to (PDX1)
• Diabetes, cogenital, infantile obesity, paradoxical Glucose-induced Ghrelin secretion (NKX2-2)
• Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
• Diabetes, type 2 (PPARG)
• Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
• Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
• Fanconi-Bickel syndrome (SLC2A2)
• Hemochromatosis (HFE)
• Hemochromatosis, type 2A (HFE2)
• Hemochromatosis, type 2A (HJV)
• Hemochromatosis, type 2B (HAMP)
• Hemochromatosis, type 3 (TFR2)
• Hemochromatosis, type 4 (SLC40A1)
• Histiocytosis-lymphadenopathy plus syndrome (SLC29A3)
• Hyper-IgE recurrent infection syndrome (STAT3)
• Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
• Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
• Hyperinsulinemic hypoglycemia, familial, 5 (INSR)
• Hyperproinsulinemia (INS)
• Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
• Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
• Insulin resistance, severe, digenic (PPARG)
• Leprechaunism (INSR)
• Lipodystrophy, congenital generalized, type 1 (AGPAT2)
• Lipodystrophy, congenital generalized, type 2 (BSCL2)
• Lipodystrophy, familial partial, type 2 (LMNA)
• Lipodystrophy, familial partial, type 3 (PPARG)
• Lipodystrophy, familial partial, type 4 (PLIN1)
• MODY, type I (HNF4A)
• MODY, type II (GCK)
• MODY, type III (HNF1A)
• MODY, type IV (PDX1)
• Mandibular hypoplasia, deafness, progeroid features + lipodystrophy syndrome (POLD1)
• Maturity-onset diabetes of the young 6 (NEUROD1)
• Maturity-onset diabetes of the young, type 10 (INS)
• Maturity-onset diabetes of the young, type 13 (KCNJ11)
• Microcephaly, epilepsy + diabetes syndrome (IER3IP1)
• Microcephaly, short stature + impaired glucose metabolism 1 (TRMT10A)
• Microvascular complications of diabetes 7 (HFE)
• Mitchell-Riley syndrome (RRFX6)
• Neonatal diabetes, pancreatic agenesis and/or congenital heart defects (GATA4)
• Obesity, resistance to (PPARG)
• Obesity, severe (PPARG)
• Pancreatic + cerebellar agenesis (PTF1A)
• Pancreatic agenesis + congenital heart defects (GATA6)
• Pancreatic agenesis 1 (PDX1)
• Pancreatic agenesis 2 (PTF1A)
• Polyendocrine-polyneuropathy syndrome (DMXL2)
• Rabson-Mendenhall syndrome (INSR)
• Renal cysts + diabetes syndrome (HNF1B)
• SHORT syndrome (PIK3R1)
• Testicular anomalies with/-out congenital heart disease (GATA4)
• Thiamine-responsive megaloblastic anemia syndrome (SLC19A2)
• Type 2 diabetes mellitus (HNF1B)
• Type 2 diabetes mellitus, susceptibility to (NEUROD1)
• Wolcott-Rallison syndrome (EIF2AK3)
• Wolfram syndrome 1 (WFS1)
• Wolfram syndrome 2 (CISD2)
• Wolfram-like syndrome, AD (WFS1)