autosomal dominant distal renal tubular acidosis
A distal renal tubular acidosis that is caused by the mutation in SLC4A1 gene and follows the autosomal dominant inheritance. It is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, nephrolithiasis, and metabolic bone disease.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:1060161
inherited distal renal tubular acidosis
is_a
AD dRTA
exact
DRTA1
exact
RTA, classic type
exact
RTA, distal type, autosomal dominant
exact
RTA, gradient type
exact
autosomal dominant SLC4A1-associated distal renal tubular acidosis
related
distal renal tubular acidosis (disease), autosomal dominant
exact
renal tubular acidosis, distal 1
exact
SPBC543.05c