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ErkrankungKohlenhydrat-Stoffwechsel-Störungen; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Kohlehydrat-Stoffwechsel-Störungen mit insgesamt 116 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
OP0030
Anzahl Gene
114 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
14,4 kb (Core-/Basis-Gene)
206,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AGA1041AR
ALDOB1095AR
CTSA1497AR und/oder Mult
FUCA11401AR
GALT1140AR und/oder Dig
MAN2B13036AR
MANBA2640AR
NAGA1236AR
NEU11248AR
ABCC84746AD und/oder AR
AGL4599AR
AGPAT2837AR
AGXT1179AR
AKT21446AD
ALDOA1095AR
APPL12129AD
ARSB1602AR
BSCL21197AD und/oder AR
CA5A918AR
CISD2408AR
DCAF171563AR
DCXR729AR
DNAJC31515AR
DYRK1B1890AD
EIF2AK33351AR
EIF2S31419XLR
ENO31305AR
FBP11017AR
FOXP31296XLR
G6PC11074AR
GAA2859AR
GALE1047AR
GALK11179AR
GALNS1569AR
GATA41329AD
GATA61788AD
GBE12109AR
GCK1398AD und/oder AR
GK1575XLR
GLB12034AR
GLIS32328AR
GLYCTK705AR
GNS1659AR
GPI1677AR
GRHPR987AR
GYG11053AR
GYS12022AR
GYS22112AR
HGSNAT1908AR
HNF1A1896AD und/oder AR und/oder Dig und/oder Sus
HNF1B1674AD und/oder Sus
HNF4A1359AD und/oder Dig und/oder Sus
HOGA1984AR
IDS1653XLR
IDUA1962AR
IER3IP1249AR
IL2RA819AR
INS333AD und/oder AR
INSR4149AD und/oder AR und/oder Sus
KCNJ111173AD und/oder AR und/oder Ass
KHK897AR
LAMP21233XLD
LCT5784AR
LDHA999AR
LMNA1995AD und/oder AR und/oder Dig
LRBA8556AR
MCM62466AR
NAGLU2232AD und/oder AR
NEUROD11071AD und/oder AR
NEUROG3645AR
NKX2-2822AR
PAX61269AD und/oder AR
PC3537AR
PCBD1315AR
PCK11869AR
PDX1852AD und/oder AR und/oder Dig und/oder Sus
PFKM2343AR
PGAM2762AR
PGK11254XLR
PGM11743AR
PHKA13633XLR
PHKA23708XLR
PHKB3282AR
PHKG21221AR
PIK3R12175AD und/oder AR
PLIN11569AD
POLD13324AD
PPARG1518AD und/oder Ass
PPP1R15B2142AR
PTF1A987AR
PYGL2544AR
PYGM2529AR und/oder Dig
RBCK11407AR
RFX62787AR
RPIA936AR
SGSH1509AR
SI5484AR
SLC16A11503AD und/oder AR
SLC19A21494AR
SLC29A31428AR
SLC2A11479AD und/oder AR
SLC2A21575AD und/oder AR
SLC37A41291AR
SLC5A11995AR
SLC5A22019AD und/oder AR
STAT32313AD und/oder Mult
TALDO11014AR
TPI1750AR
TREH1751AR
TRMT10A1020AR
WFS12673AD und/oder AR
ZBTB202226AD
ZFP571611AD
ZMPSTE241428AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Ass
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Ass
  • AD und/oder Dig und/oder Sus
  • AD und/oder Mult
  • AD und/oder Sus
  • AR
  • AR und/oder Dig
  • AR und/oder Mult
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E74.8

Bioinformatik und klinische Interpretation

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