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ErkrankungDiabetes mellitus, monogen mit Zusatzsymptomen; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Diabetes mellitus, monogen mit Zusatzsymptomen mit 45 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
DP3993
Anzahl Gene
44 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
97,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABCC84746AD und/oder AR
AGPAT2837AR
ALMS112504AR
BSCL21197AD und/oder AR
CISD2408AR
DMXL29114AD
EIF2AK33351AR
FOXP31296XLR
GATA41329AD
GATA61788AD
GCK1398AD und/oder AR
GLIS32328AR
HAMP255AR und/oder Dig
HFE1047AD und/oder AR und/oder Dig
HFE21284
  • Keine OMIM-Gs verknüpft
AR
HJV1281AR
HNF1A1896AD und/oder AR und/oder Dig und/oder Sus
HNF1B1674AD und/oder Sus
HNF4A1359AD und/oder Dig und/oder Sus
IER3IP1249AR
INS333AD und/oder AR
INSR4149AD und/oder AR und/oder Sus
KCNJ111173AD und/oder AR und/oder Ass
LMNA1995AD und/oder AR und/oder Dig
LRBA8556AR
NEUROD11071AD und/oder AR
NEUROG3645AR
NKX2-2822AR
PDX1852AD und/oder AR und/oder Dig und/oder Sus
PIK3R12175AD und/oder AR
PLIN11569AD
POLD13324AD
PPARG1518AD und/oder Ass
PTF1A987AR
RFX62787AR
SLC19A21494AR
SLC29A31428AR
SLC2A21575AD und/oder AR
SLC40A11716AD und/oder Ass
STAT32313AD und/oder Mult
TFR22406AR
TRMT10A1020AR
WFS12673AD und/oder AR
ZFP571611AD

Infos zur Erkrankung

Synonyme
  • 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)
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
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E13.-

Bioinformatik und klinische Interpretation

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