There is a genetic component to inheritance. While the disease can manifest without an inciting factor, most diagnoses come from an autosomal dominant and (less commonly) autosomal recessive form of inheritance. Specific genes include the SLC4A1 on chromosome 17, ATP6V1B1 on chromosome 2, and ATP6V0A4 on chromosome 7. Nephrons are the functional cells of the kidney and are necessary for kidney reabsorption, secretion, and excretion. Mutations in the genes mentioned above contribute to a defect in nephrons. In order for the nephron to remove acid (hydrogen ions) from the body, it must pair it with ammonia to produce ammonium. These mutations lead to the nephron's inability to pair the hydrogen ion with ammonia, preventing hydrogen ions from being excreted through the urine. This, along with the inability to excrete other acids in the body, contribute to metabolic acidosis and renal tubular acidosis.
Lightwood–Albright syndrome
McCune–Albright syndrome
Young–Madders syndrome
Multiple endocrine neoplasia type 1
Wilson–Turner syndrome
Wolcott–Rallison syndrome
Multiple endocrine neoplasia type 2
Alström syndrome