Search
hyperuricemia pulmonary hypertension renal failure & alkalosis (HUPRA)
Pathology:
- multisystem disorder
Genetics:
- associated with defects in SARS2 are the cause of hyperuricemia pulmonary hypertension renal failure & alkalosis (HUPRA) [MIM:613845]
Clinical manifestations:
- onset in infancy
- progressive renal failure
- pulmonary hypertension
- hypotonia
- delayed development
- affected individuals are born prematurely
Laboratory:
- basic metabolic panel: electrolyte imbalances
- arterial blood gas: metabolic alkalosis
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 613845
References
- UniProt :accession Q9NP81
- OMIM :accession 613845