Features include always present findings: Diabetes mellitus, Failure to thrive, Hypomagnesemia, and Hyperechogenic kidneys and others; and common findings: Type 2 muscle fiber atrophy, Low muscle tone (hypotonia), Respiratory failure, and Protein in the urine (proteinuria) and others. 25 total HPO annotations.

SARS2 function has not been fully characterized.

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is associated with mutations in the SARS2 gene on chromosome 19.

Genetic testing for SARS2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome has been reported in the published literature.

Phenotype severity distribution: 15 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome.

230 publications have been identified in PubMed for hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome. Kisho has analyzed 87 by research type. Research spans Review / Meta-Analysis (69%), Epidemiology / Natural History (15%), and Case Report / Case Series (5%).