ErkrankungDiabetes mellitus, neonatal; Differentialdiagnose

NGS +

[Sanger]

Hyperglykämie, Gedeihstörungen, in einigen Fällen Dehydrierung + Ketoazidose - kann bei einem Kind innerhalb der ersten Lebensmonate schwerwiegend mit Koma sein

• Alias: Neonatal diabetes mellitus (NDM)
• Allelic: Cataract 41 (WFS1)
• Allelic: Deafness, AD 6/14/38 (WFS1)
• Allelic: Diabetes mellitus, gestational (GCK)
• Allelic: Diabetes mellitus, insulin-dependent (HNF1A)
• Allelic: Diabetes mellitus, insulin-dependent, 2 (INS)
• Allelic: Diabetes mellitus, insulin-dependent, 20 (HNF1A)
• Allelic: Diabetes mellitus, noninsulin-dependent (ABCC8, HNF1B, HNF4A, SLC2A2)
• Allelic: Diabetes mellitus, noninsulin-dependent, 2 (HNF1A)
• Allelic: Diabetes mellitus, noninsulin-dependent, association with (WFS1)
• Allelic: Diabetes mellitus, noninsulin-dependent, late onset (GCK)
• Allelic: Diabetes mellitus, type 1 (INS)
• Allelic: Diabetes mellitus, type 2, susceptibility to (KCNJ11)
• Allelic: Diabetes mellitus, type II, susceptibility to (PDX1)
• Allelic: Diarrhea 4, malabsorptive, congenital (NEUROG3)
• Allelic: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
• Allelic: Hepatic adenoma, somatic (HNF1A)
• Allelic: Hyper-IgE recurrent infection syndrome (STAT3)
• Allelic: Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
• Allelic: Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
• Allelic: Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
• Allelic: Hypoglycemia of infancy, leucine-sensitive (ABCC8)
• Allelic: MODY, type II (GCK)
• Allelic: MODY, type III (HNF1A)
• Allelic: MODY, type IV (PDX1)
• Allelic: MODY, type VI (NEUROD1)
• Allelic: MODY, type X (INS)
• Allelic: Neuropathy, distal hereditary motor, type VC (BSCL2)
• Allelic: Silver spastic paraplegia syndrome (BSCL2)
• Allelic: Thiamine-responsive megaloblastic anemia syndrome (SLC19A2)
• Allelic:MODY, type I (HNF4A)
• Asphyxiating thoracic dystrophy syndrome + infantile‐onset diabetes [panelapp] (PDIA6)
• Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
• Congenital generalised lipodystrophy, severe insulin resistance + diabetes [panelapp] (BSCL2)
• Currarino syndrome (MNX1)
• Diabetes mellitus, neonatal, with congenital hypothyroidism (GLIS3)
• Diabetes mellitus, permanent neonatal (ABCC8, GCK, INS)
• Diabetes mellitus, permanent neonatal, with neurologic features (KCNJ11)
• Diabetes mellitus, transient neonatal (KCNJ11)
• Diabetes mellitus, transient neonatal 2 (ABCC8)
• Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
• Diabetes, permanent neonatal (KCNJ11)
• Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
• Fanconi-Bickel syndrome (SLC2A2)
• Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
• Immunodysregulation, polyendocrinopathy, enteropathy, XL, IPEX (FOXP3)
• Lipodystrophy, congenital generalized, type 2 (BSCL2)
• MEHMO [Mental retard., Epilepsy, Hypogonadism/-genitalism, Microcephaly, Obesity] syndrome (EIF2S3)
• Microcephaly, epilepsy + diabetes syndrome (IER3IP1)
• Microcephaly, epilepsy + diabetes syndrome 2 (YIPF5)
• Mitchell-Riley syndrome, includes neonatal diabetes (RFX6)
• Neonatal diabetes + generalised lipodystrophy [panelapp] (BSCL2)
• Neonatal diabetes mellitus [MONDO:0016391] (IL2RA)
• Neonatal diabetes, pancreatic agenesis and/or congenital heart defects (GATA4)
• Pancreatic agenesis 1 (PDX1, PTF1A)
• Pancreatic agenesis and congenital heart defects (GATA6)
• Renal cell carcinoma (HNF1A, HNF1B)
• Renal cysts and diabetes syndrome (HNF1B)
• Wolcott-Rallison syndrome (EIF2AK3)
• Wolfram syndrome 1 (WFS1)
• Wolfram-like syndrome, AD (WFS1)