Conditions illustrating the contribution of insulin resistance, insulin secretion defects, and apoptosis to the development of diabetes
| Presumed mechanism | Condition | Gene and location | Other features | |||
|---|---|---|---|---|---|---|
| GCK, glucokinase; MODY, maturity onset diabetes of the young; PHHI, persistent hyperinsulinaemic hypoglycaemia of infancy; PNDM, permanent neonatal diabetes. | ||||||
| Insulin resistance | PPARγ | PPARγ (3p25) | • Hypertension | |||
| • Hypertriglyceridaemia | ||||||
| Congenital generalised lipodystrophy | BSCL1 (9q34.3) | • Congenital lipodystrophy | ||||
| BSCL2 (11q13) | • Hypertriglyceridaemia | |||||
| • Hyperandrogenism | ||||||
| Insulin receptor defects | INSR (19p13.2) | • Fasting hypoglycaemia | ||||
| • Postprandial hyperglycaemia | ||||||
| • Lipodystrophy and dysmorphism | ||||||
| • Progressive diabetes | ||||||
| Insulin secretion defects | Glucokinase defects | GCK (7p15–p13) | • MODY | |||
| • PNDM | ||||||
| • PHHI | ||||||
| Kir6.2 defects | KCNJ11 (11p15.1) | • Developmental delay | ||||
| • Epilepsy | ||||||
| • PHHI | ||||||
| Apoptosis | Wolcott–Rallison | EIF2AK3 (2p12) | • Epiphyseal dysplasia | |||
| • Developmental delay | ||||||
| • Renal/hepatic impairment | ||||||
| Wolfram | WFS1 (4p16.1) | • Deafness | ||||
| ?WFS2 (4q22–24) | • Optic atrophy | |||||
| • Diabetes insipidus | ||||||
| Friedreich’s ataxia | FRDA1 (9q13) | • Ataxia | ||||
| • Pyramidal signs | ||||||
| • Loss of leg reflexes | ||||||
| Werner syndrome | WRN (8p12–11.2) | • Premature aging | ||||
| • Sarcomas | ||||||
| Thiamine responsive megaloblastic anaemia | SLC19A2 (1q23.3) | • Megaloblastic anaemia | ||||
| • Sensorineural deafness | ||||||