Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Disturbances of glucose metabolism

If homeostasis of blood glucose is is impaired, either hyperinsulinemia with hypoglycemia or diabetes, insufficient insulin secretion or insulin resistance, ensues.

Systematic

Hereditary metabolic diseases
Aceruloplasminemia/Hypoceruloplasminemia
Coenzyme Q10 deficiency
Congenital disorder of glycosylation
Disorders of cobalamin metabolism
Disorders of iron metabolism
Disorders of urate metabolism
Disturbances in phosphate metabolism
Disturbances of glucose metabolism
Diabetes mellitus
Autoimmune diabetes
FOXP3
HLA-DQA1
IL6
Diabetic nephropathy
ACE
AGT
AKR1B1
Diabetic retinopathy
PON1
VEGFA
Gestational diabetes mellitus
Autoimmune diabetes
FOXP3
HLA-DQA1
IL6
MODY diabetes
MODY1 diabetes
HNF4A
MODY10 diabetes
INS
MODY11 diabetes
BLK
MODY12 diabetes
ABCC8
MODY13 diabetes
KCNJ11
MODY14 diabetes
APPL1
MODY2 diabetes
GCK
MODY3 diabetes
HNF1A
MODY4 diabetes
PDX1
MODY5 diabetes
HNF1B
MODY6 diabetes
NEUROD1
MODY7 diabetes
KLF11
MODY8 diabetes
CEL
MODY9 diabetes
PAX4
Mannose-binding protein deficiency
MBL2
Mitchell-Riley syndrome
RFX6
Partial lipodystrophy
Familial partial lipodystrophy type 2
LMNA
Familial partial lipodystrophy type 3
PPARG
Familial partial lipodystrophy type 4
PLIN1
Familial partial lipodystrophy type 5
CIDEC
TRPM6
Hereditary susceptibility to diabetes
IRS1
MAPK8IP1
PDX1
SH2B1
TBC1D1
Insulin resistance
CIDEC
Diabetes mellitus with insulin resistance and acanthosis nigricans
INSR
ENPP1
IRS1
IRS2
PPARG
MODY diabetes
MODY1 diabetes
HNF4A
MODY10 diabetes
INS
MODY11 diabetes
BLK
MODY12 diabetes
ABCC8
MODY13 diabetes
KCNJ11
MODY14 diabetes
APPL1
MODY2 diabetes
GCK
MODY3 diabetes
HNF1A
MODY4 diabetes
PDX1
MODY5 diabetes
HNF1B
MODY6 diabetes
NEUROD1
MODY7 diabetes
KLF11
MODY8 diabetes
CEL
MODY9 diabetes
PAX4
Mitochondrial diabetes
TRNE
TRNK
TRNL1
TRNS2
Neonatal diabetes mellitus
Leprechaunism
INSR
Mitchell-Riley syndrome
RFX6
Neonatal diabetes mellitus with congenital hypothyroidism
GLIS3
Pancreatogenic diabetes
Mitchell-Riley syndrome
RFX6
Pancreatic agenesis 1
PDX1
Pancreatic agenesis 2
PTF1A
Pancreatic agenesis and congenital heart defects
GATA6
Permanent neonatal diabetes mellitus
ABCC8
Developmental delay, epilepsy, and neonatal diabetes
KCNJ11
GCK
INS
KCNJ11
Phosphoribosylpyrophosphate synthetase superactivity
PRPS1
Wolcott-Rallison syndrome
EIF2AK3
Rabson-Mendenhall syndrome
INSR
Renal cysts and diabetes (RCAD)
HNF1B
Transient neonatal diabetes mellitus 1
HYMAI
PLAGL1
ZFP57
Transient neonatal diabetes mellitus 2
ABCC8
Transient neonatal diabetes mellitus 3
KCNJ11
X-linked immunodysregulation, polyendocrinopathy, and enteropathy
FOXP3
Noninsulin-dependent diabetes mellitus 1
CAPN10
Pancreatogenic diabetes
Mitchell-Riley syndrome
RFX6
Pancreatic agenesis 1
PDX1
Pancreatic agenesis 2
PTF1A
Pancreatic agenesis and congenital heart defects
GATA6
Severe obesity and type 2 diabetes
UCP3
Disturbed regulators of lipid and carbohydrate metabolism
GCKR
GPD1
MLXIPL
TRIB1
Fasting plasma glucose trait loci
G6PC2
GCKR
Hyperinsulinemic hypoglycemia
HNF1A
HNF4A
Hyperinsulinemic hypoglycemia 1
ABCC8
Hyperinsulinemic hypoglycemia 2
KCNJ11
Hyperinsulinemic hypoglycemia 3
GCK
Hyperinsulinemic hypoglycemia 4
HADH
Hyperinsulinemic hypoglycemia 5
INSR
Hyperinsulinemic hypoglycemia 6
GLUD1
Hyperinsulinemic hypoglycemia 7
SLC16A1
Polycystic kidney disease with hyperinsulinemic hypoglycemia
PMM2
Hypoinsulinemic hypoglycemia
AKT2
Food intolerance
Genetic hyperbilirubinemia
Glycolipidosis
HADH deficiency
Hereditary lipid disorders
Hypercatabolic hypoproteinemia
Hyperzincemia and hypercalprotectinemia
Hypomagnesemia
Hypomethylation syndrome
Lysosomal storage disease
MELAS syndrome
Methionine adenosyltransferase deficiency
Methylmalonic aciduria
Urea cycle disorders
Update: April 29, 2019