Gene | Protein | Inheritance | Onset | Comments |
---|---|---|---|---|
SLC12A3 | NCCT | AR | Childhood to adulthood | Gitelman syndrome - hypokalemia, hypomagnesemia, tetany |
SNN1B | Β subunit of ENaC | AD | Childhood | Liddle syndrome - hypertension, hypokalemia, alkalosis, suppressed aldosterone and renin |
SNN1G | Γ subunit of ENaC | AD | Childhood | Liddle syndrome |
HSD11B2 | 11β-hydroxysteroid dehydrogenase | AR | Childhood | Apparent mineralocorticoid excess - Hypertension, suppressed aldosterone and renin |
WNK1 | WNK1 protein | AR | Childhood | Gordon syndrome - hypertension, hyperkalemia, metabolic acidosis |
WNK4 | WNK4 protein | AR | Childhood | Gordon syndrome |
MLR | Mineralocorticoid receptor | AD | Childhood | AD pseudohypoaldosteronism type1 - hyponatremia, hyperkalemia, salt wasting |
SNN1A | α-subunit of ENaC | AR | Infancy | AR pseudohypoaldosteronism type 1 - severe salt wasting, hyperkalemia, hyponatremia |
SNN1B | β-subunit of ENaC | AR | Infancy | AR pseudoaldosteronism |
SNN1G | γ-subunit of ENaC | AR | Infancy | AR pseudoaldosteronism |
AE1 | AE1 | AD | Infancy | dRTA |
ATP6V1B1 | β-subunit of H+-ATPase | AR | Infancy | dRTA, deafness |
ATP6V0A4 | α-subunit of H+-ATPase | AR | Infancy | dRTA |
AVPR2 | AVPreceptor | X-linked | Infancy | Nephrogenic diabetes insipidus |
AQP2 | Aquaporin 2 | AR | Infancy | Nephrogenic diabetes insipidus |