Table 6: Genetic disorders of the distal convoluted tubule and collecting duct.

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