Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis (SARS2)

Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (HUPRA) is an autosomal recessive disorder caused by pathogenic variants in the gene SARS2. The onset of this condition occurs in infancy. Most individuals are born prematurely and have electrolyte imbalances, feeding difficulties, metabolic acidosis, and hyperuricemia. Infants also develop pulmonary hypertension, ventricular hypertrophy, and progressive renal failure. Infants have significant global developmental delay. This disorder is typically fatal in infancy to early childhood. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):