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- 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. One of the two infants' parents 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. And it's due to mutations in the mitochondrial SARS enzyme. It is an autosomal recessive disease, that has a prevalence of less than one in a million. One in fifteen of the village's inhabitants were found to carry the genetic mutation. (en)
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- HUPRA syndrome is inherited via autosomal recessive manner (en)
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- Less than one in a million (en)
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- Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (en)
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- 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. One of the two infants' parents were related. It was later described in a third infant from the same village, whose parents were not related. (en)
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