6.2.a
Disorders of insulin metabolism
- ATP-sensitive potassium channel regulatory subunit deficiency (Familial hyperinsulinemic hypoglycemia type 1)
- ATP-sensitive potassium channel regulatory subunit superactivity (Developmental delay, epilepsy and neonatal diabetes – DEND, permanent or transient neonatal diabetes without neurologic features, severe; maturity-onset diabetes of the young type 12, milder)
- ATP-sensitive potassium channel pore-forming subunit deficiency (Familial hyperinsulinemic hypoglycemia type 2)
- ATP-sensitive potassium channel pore-forming subunit superactivity (Developmental delay, epilepsy and neonatal diabetes – DEND, permanent or transient neonatal diabetes without neurologic features, severe); maturity-onset diabetes of the young type 13, milder)
- Hepatocyte nuclear factor-4 alpha deficiency
- Hepatocyte nuclear factor-1 alpha deficiency
- Hepatocyte nuclear factor-1 beta deficiency
- Uncoupling protein 2 deficiency
- Primary congenital insulin deficiency (Permanent neonatal diabetes mellitus, severe); maturity-onset diabetes of the young type 1, milder)
- Proinsulin cleavage deficiency (Hyperproinsulinemia)
- Insulin receptor deficiency (Familial hyperinsulinemic hypoglycemia type 5)
- Insulin promoter factor 1 deficiency (Maturity-onset diabetes of the young type 4, dominant; pancreatic agenesis, recessive)
- Neurogenic differentiation factor 1 deficiency (Maturity-onset diabetes of the young type 6, dominant; permanent neonatal diabetes and neurologic anomalies, recessive)
- Krüppel-like factor 11 deficiency (Maturity-onset diabetes of the young type 7)
- PAX4 deficiency (Maturity-onset diabetes of the young type 9)
- BLK deficiency (Maturity-onset diabetes of the young type 11)
- APPL1 deficiency (Maturity-onset diabetes of the young type 14)
- AKT2 superactivity (Hypoinsulinemic hypoglycemia with hemihypertrophy)
- RFX6 deficiency (Mitchell-Riley syndrome, recessive; maturity-onset diabetes of the young, dominant)
Subnetworks
C-FAO
Carbohydrate, fatty acid oxidation and ketone bodies disorders
