HUPRA syndrome
id:
hupra-syndrome-324-2597818
title:
HUPRA syndrome
text:
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
brand slug:
wiki
category slug:
encyclopedia
description:
Human disease
original url:
https://en.wikipedia.org/wiki/HUPRA_syndrome
date created:
date modified:
2024-03-24T13:34:41Z
main entity:
{"identifier":"Q30314091","url":"https://www.wikidata.org/entity/Q30314091"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15