Monogenic diseases
Monogenic diseases
- 21-hydroxylase deficiency
- Androgen insensitivity syndrome
- APECED
- Dilated cardiomyopathy
- Fabry disease
- Familial hypercholesterolemia
- Pheochromocytoma
- Gaucher’s disease
- Gitelman syndrome
- Hemochromatosis
- Hypercalsemia
- Hypertriglyceridemia
- Hypertrophic cardiomyopathy
- Hypocalsemia
- Type III hyperlipidemia
- Thyroid hormone resistance
- Liddle syndrome
- Aldosterone producing adenoma
- Marfan syndrome
- Obesity caused by melanocortin-4 receptor mutations
- Mitochondrial diabetes
- MODY diabetes
- Monogenic diabetes
- Multiple endocrine neoplasia type 1
- Multiple endocrine neoplasia type 2
- Other familial hypercholesterolemia
- Nephrotic syndrome
- Familial hypothyroidism
- Polycystic kidney disease
- Sitosterolemia
- Congenital hyperinsulinemia
- Permanent neonatal diabetes mellitus