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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessDiabetes mellitus, monogenic including additional symptoms; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Diabetes mellitus, monogenic including additional symptoms comprising 45 curated genes according to the clinical signs

ID
DP3993
Number of genes
43 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
96,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ABCC84746NM_000352.6AD, AR
AGPAT2837NM_006412.4AR
ALMS112504NM_015120.4AR
BSCL21197NM_032667.6AR
CISD2408NM_001008388.5AR
DMXL29114NM_001174116.3AD
EIF2AK33351NM_004836.7AR
FOXP31296NM_014009.4XLR
GATA41329NM_002052.5AD
GATA61788NM_005257.6AD
GCK1398NM_000162.5AD, AR
GLIS32328NM_152629.4AR
HAMP255NM_021175.4AR
HFE1047NM_000410.4AR
HJV1281NM_213653.4AR
HNF1A1896NM_000545.8AD
HNF1B1674NM_000458.4AD
HNF4A1359NM_175914.4AD
IER3IP1249NM_016097.5AR
INS333NM_000207.3AD, AR
INSR4149NM_000208.4AD, AR
KCNJ111173NM_000525.4AD
LMNA1995NM_170707.4AD
LRBA8556NM_001199282.2AR
NEUROD11071NM_002500.5AD, AR
NEUROG3645NM_020999.4AR
NKX2-2822NM_002509.4AR
PDX1852NM_000209.4AR
PIK3R12175NM_181523.3AD
PLIN11569NM_002666.5AD
POLD13324NM_002691.4AD
PPARG1518NM_015869.5AD
PTF1A987NM_178161.3AR
RFX62787NM_173560.4AR
SLC19A21494NM_006996.3AR
SLC29A31428NM_018344.6AR
SLC2A21575NM_000340.2AR
SLC40A11716NM_014585.6AD
STAT32313NM_139276.3AD
TFR22406NM_003227.4AR
TRMT10A1020NM_001134665.3AR
WFS12673NM_006005.3AD, AR
ZFP571611NM_001109809.5AD, AR

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined