Klinische FragestellungKohlenhydrat-Stoffwechsel-Störungen; Differentialdiagnose

NGS +

[Sanger]

Gruppe von Erkrankungen

• Alias: Oligosaccharidoses
• Allelic: Agammaglobulinemia 7, (AR (PIK3R1)
• Allelic: Aniridia (PAX6)
• Allelic: Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• 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: Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Carotid intimal medial thickness 1 (PPARG)
• Allelic: Cataract 41 (WFS1)
• Allelic: Cataract with late-onset corneal dystrophy (PAX6)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Coloboma of optic nerve (PAX6)
• Allelic: Coloboma, ocular (PAX6)
• Allelic: Colorectal cancer, susceptibility to, 1 (POLD1)
• Allelic: Deafness, AD 6/14/38 (WFS1)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Foveal hypoplasia 1 (PAX6)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hyper-IgE recurrent infection syndrome (STAT3)
• Allelic: Immunodeficiency 36 (PIK3R1)
• Allelic: Keratitis (PAX6)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Morning glory disc anomaly (PAX6)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Optic nerve hypoplasia (PAX6)
• Allelic: Persistent truncus arteriosus (GATA6)
• Allelic: Renal cell carcinoma (HNF1A, HNF1B)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Restrictive dermopathy, lethal (ZMPSTE24)
• Allelic: Retinitis pigmentosa 73 (HGSNAT)
• Allelic: Testicular anomalies withwithout congenital heart disease (GATA4)
• Allelic: Tetralogy of Fallot (GATA4, GATA6)
• Allelic: Ventricular septal defect 1 (GATA4)
• Abdominal obesity-metabolic syndrome (DYRK1B)
• Aspartylglucosaminuria (AGA)
• Ataxia, combined cerebellar + peripheral, with hearing loss + diabetes mellitus (DNAJC3)
• Congenital disorder of glycosylation, type IIw (SLC37A4)
• Congenital disorder of glycosylation, type It (PGM1)
• Currarino syndrome (MNX1)
• D-glyceric aciduria (GLYCTK)
• Danon disease (LAMP2)
• Diabetes [panelapp] (PAX6)
• Diabetes mellitus, insulin-dependent (HNF1A)
• Diabetes mellitus, insulin-dependent, 2 (INS)
• Diabetes mellitus, insulin-dependent, 20 (HNF1A)
• Diabetes mellitus, insulin-resistant + 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, +/- 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 (AKT2)
• Diabetes mellitus, type II, susceptibility to (PDX1)
• Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
• Diabetes, permanent neonatal 2, with or without neurologic features (KCNJ11)
• Diabetes, type 2 (PPARG)
• Diarrhea 4, malabsorptive, congenital (NEUROG3)
• Dystonia 9 (SLC2A1)
• Encephalopathy, progressive, +/- lipodystrophy (BSCL2)
• Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Erythrocyte lactate transporter defect (SLC16A1)
• Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
• Fanconi-Bickel syndrome (SLC2A2)
• Fructose intolerance, hereditary (ALDOB)
• Fructose-1,6-bisphosphatase deficiency (FBP1)
• Fructosuria (KHK)
• Fucosidosis (FUCA1)
• GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• GM1-gangliosidosis, type I (GLB1)
• GM1-gangliosidosis, type II (GLB1)
• GM1-gangliosidosis, type III (GLB1)
• Galactokinase deficiency with cataracts (GALK)
• Galactose epimerase deficiency (GALE)
• Galactosemia (GALT)
• Galactosialidosis (CTSA)
• Glucose/galactose malabsorption (SLC5A1)
• Glycerol kinase deficiency (GK)
• Glycogen storage disease 0, liver (GYS2)
• Glycogen storage disease 0, muscle (GYS1)
• Glycogen storage disease II (GAA)
• Glycogen storage disease IIIa (AGL)
• Glycogen storage disease IIIb (AGL)
• Glycogen storage disease IV (GBE1)
• Glycogen storage disease IXc (PHKG2)
• Glycogen storage disease Ia (G6PC1)
• Glycogen storage disease Ib (SLC37A4)
• Glycogen storage disease Ic (SLC37A4)
• Glycogen storage disease VI (PYGL)
• Glycogen storage disease VII (PFKM)
• Glycogen storage disease X (PGAM2)
• Glycogen storage disease XI (LDHA)
• Glycogen storage disease XII (ALDOA)
• Glycogen storage disease XIII (ENO3)
• Glycogen storage disease XV (GYG1)
• Glycogen storage disease, type IXa1 (PHKA2)
• Glycogen storage disease, type IXa2 (PHKA2)
• Hemolytic anemia due to triosephosphate isomerase deficiency (TPI1)
• Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency (GPI)
• Histiocytosis-lymphadenopathy plus syndrome (SLC29A3)
• Hutchinson-Gilford progeria (LMNA)
• Hyperammonemia due to carbonic anhydrase VA deficiency (CA5A)
• Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
• Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
• Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
• Hyperinsulinemic hypoglycemia, familial, 5 (INSR)
• Hyperinsulinemic hypoglycemia, familial, 7 (SLC16A1)
• Hyperoxaluria, primary, type 1 (AGXT)
• Hyperoxaluria, primary, type II (GRHPR)
• Hyperoxaluria, primary, type III (HOGA1)
• Hyperphenylalaninemia, BH4-deficient, D (PCBD1)
• Hyperproinsulinemia (INS)
• Hypoglycemia of infancy, leucine-sensitive (ABCC8)
• Hypoinsulinemic hypoglycemia with hemihypertrophy (AKT2)
• Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
• Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
• Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
• Insulin resistance, severe, digenic (PPARG)
• Kanzaki disease (NAGA)
• Lactase deficiency, congenital (LCT)
• Lactase persistence + nonpersistence (MCM6)
• 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)
• MEHMO [ment. ret., epilepsy, hypogonad./-genital., microceph., obesity] syndrome (EIF2S3)
• MODY, type I (HNF4A)
• MODY, type II (GCK)
• MODY, type III (HNF1A)
• MODY, type IV (PDX1)
• Malouf syndrome (LMNA)
• Mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome (POLD1)
• Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
• Mannosidosis, alpha-, types I + II (MAN2B1)
• Mannosidosis, beta (MANBA)
• 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)
• Maturity-onset diabetes of the young, type 14 (APPL1)
• Maturity-onset diabetes of the young, type VIII (CEL)
• McArdle disease (PYGM)
• Microcephaly, epilepsy + diabetes syndrome (IER3IP1)
• Microcephaly, short stature + impaired glucose metabolism 1 (TRMT10A)
• Microcephaly, short stature + impaired glucose metabolism 2 (PPP1R15B)
• Mitchell-Riley syndrome (RFX6)
• Monocarboxylate transporter 1 deficiency (SLC16A1)
• Mucopolysaccharidosis II (IDS)
• Mucopolysaccharidosis IVA (GALNS)
• Mucopolysaccharidosis Ih (IDUA)
• Mucopolysaccharidosis Ih/s (IDUA)
• Mucopolysaccharidosis Is (IDUA)
• Mucopolysaccharidosis type IIIA, Sanfilippo A (SHSH)
• Mucopolysaccharidosis type IIIB (Sanfilippo B (NAGLU)
• Mucopolysaccharidosis type IIIC, Sanfilippo C (HGSNAT)
• Mucopolysaccharidosis type IIID (GNS)
• Mucopolysaccharidosis type IVB, Morquio (GLB1)
• Mucopolysaccharidosis type VI, Maroteaux-Lamy (ARSB)
• Muscle glycogenosis (PHKA1)
• Neonatal diabetes + additional multi-organ autoimmunity [panelapp] (STAT3)
• Neonatal diabetes mellitus [MONDO:0016391] (NKX2-2)
• Neonatal diabetes, pancreatic agenesis and/or congenital heart defects [panelapp] (GATA4)
• Neuropathy, distal hereditary motor, type VC (BSCL2)
• 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)
• Pentosuria (DCXR)
• Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCK1)
• Phosphoglycerate kinase 1 deficiency (PGK1)
• Phosphorylase kinase deficiency of liver + muscle, AR (PHKB)
• Polyglucosan body disease, adult form (GBE1)
• Polyglucosan body myopathy 1 with/-out immunodeficiency (RBCK1)
• Polyglucosan body myopathy 2 (GYG1)
• Primrose syndrome (ZBTB20)
• Pyruvate carboxylase deficiency (PC)
• Rabson-Mendenhall syndrome (NSR)
• Renal cysts + diabetes syndrome (HNF1B)
• Renal glucosuria (SLC5A2)
• Ribose 5-phosphate isomerase deficiency (RPIA)
• SHORT syndrome [partial lipodystrophy, Rieger anomaly + short stature] (PIK3R1)
• Schindler disease, type I + III (NAGA)
• Sialidosis, type I + II (NEU1)
• Silver spastic paraplegia syndrome (BSCL2)
• Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Sucrase-isomaltase deficiency, congenital (SI)
• Syndromic neonatal diabetes, sev. developm. delay, hypotonia, cort. blindness, hearing loss (NKX2-2)
• Thiamine-responsive megaloblastic anemia syndrome (SLC19A2)
• Transaldolase deficiency (TALDO1)
• Trehalase deficiency (TREH)
• 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)
• Woodhouse-Sakati syndrome (DCAF17)