hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
MONDO:0013458
Outbreak surveillance
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View hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome on the outbreak map →HUPRA syndrome
HUPRA syndrome is a rare syndrome that was first described in 2010 in two infants of Palestinian origin from the same village in the Jerusalem area. The parents of one of the two infants were related. It was later described in a third infant from the same village, whose parents were not related. The acronym stands for Hyperuricemia, Pulmonary hypertension, Renal failure in infancy and Alkalosis. The condition is caused by mutations in the mitochondrial SARS enzyme. It is an autosomal recessive disease with a prevalence of less than one in a million. One in fifteen of the village's inhabitants were found to carry the genetic mutation.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.