{"orpha":363694,"name":"Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HUPRA syndrome"],"definition":"A rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363694/","orphanet_url":"https://www.orpha.net/en/disease/detail/363694","names":{"fr":{"name":"Syndrome d'hyperuricémie-hypertension artérielle pulmonaire-insuffisance rénale-alcalose","synonyms":["Syndrome HUPRA"],"definition":"Maladie mitochondriale rare d'origine génétique caractérisée par une insuffisance rénale progressive à début précoce, se manifestant par une hyperuricémie, une hyponatrémie, une hypomagnésémie, une alcalose métabolique hypochlorémique, des taux élevés d'azote uréique sanguin et une polyurie associés à des manifestations systémiques à type d'hypertension pulmonaire, de retard de croissance staturo-pondérale, de retard de développement global, d'hypotonie et d'hypertrophie ventriculaire. Les autres signes sont une prématurité, des taux sériques élevés de lactate, un diabète sucré et, chez certains patients, une pancytopénie."},"de":{"name":"Hyperurikämie-pulmonale Hypertension- Nierenversagen-Alkalose-Syndrom","synonyms":["HUPRA-Syndrom"]},"es":{"name":"Síndrome de hiperuricemia-hipertensión pulmonar-insuficiencia renal-alcalosis","synonyms":["Síndrome HUPRA"],"definition":"Es una enfermedad mitocondrial genética y poco frecuente, caracterizada por insuficiencia renal progresiva de inicio temprano, que se manifiesta con hiperuricemia, hiponatremia, hipomagnesemia, alcalosis metabólica hipoclorémica, BUN elevado y poliuria. Se asocia también a manifestaciones sistémicas que incluyen hipertensión pulmonar, fallo de medro, retraso global del desarrollo, hipotonía e hipertrofia ventricular. Otras características adicionales incluyen prematuridad, lactato sérico elevado, diabetes mellitus y, en algunos casos, pancitopenia."},"it":{"name":"Sindrome iperuricemia-ipertensione polmonare-insufficienza renale-alcalosi","synonyms":["Sindrome HUPRA"],"definition":"La sindrome che associa l'iperuricemia, l'ipertensione polmonare, l'insufficienza renale e l'alcalosi è una malattia genetica rara dei mitocondri, caratterizzata da insufficienza renale progressiva ad esordio precoce, che si manifesta con iperuricemia, iponatriemia, ipomagnesemia, alcalosi metabolica ipocloremica, livelli elevati di azoto ureico e poliuria. I segni clinici sistemici comprendono l'ipertensione polmonare, il ritardo della crescita e dello sviluppo globale, l'ipotonia e l'ipertrofia ventricolare. Altri segni clinici sono la prematurità, i livelli elevati di lattato nel siero, il diabete mellito e, in alcuni pazienti, la pancitopenia."},"nl":{"name":"Hyperurikemie - pulmonale hypertensie - nierfalen - alkalose-syndroom","synonyms":["HUPRA-syndroom"],"definition":"Hyperurikemie - pulmonale hypertensie - nierfalen - alkalose-syndroom is een zeldzame, genetische, mitochondriale ziekte die gekarakteriseerd wordt door vroege aanvang van progressief nierfalen, dat zich manifesteert als hyperurikemie, hyponatriëmie, hypomagnesiëmie, hypochloremische metabole alkalose, verhoogd BUN en polyurie, geassocieerd met systemische manifestaties waaronder pulmonale hypertensie, groeiachterstand, algehele ontwikkelingsachterstand, hypotonie en ventriculaire hypertrofie. Bijkomende kenmerken zijn onder meer prematuriteit, verhoogd gehalte van lactaat in het serum, diabetes mellitus en, bij sommigen, pancytopenie."},"pt":{"name":"Síndrome de hiperuricémia – hipertensão pulmonar – falência renal – alcalose"},"pl":{"name":"Zespół hiperurykemia-nadciśnienie płucne-niewydolność nerek-zasadowica","synonyms":["Zespół HUPRA"]},"cs":{"name":"Syndrom zahrnující hyperurikémii, plicní hypertenzi, renální selhání a alkalózu","synonyms":["HUPRA syndrom"]},"uk":{"name":"Синдром гіперурикемії-легеневої гіпертензії-ниркової недостатності-алкалозу","synonyms":["Синдром HUPRA"],"definition":"A rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia."},"zh":{"name":"高尿酸血症-肺动脉高压-肾衰-碱中毒综合征","synonyms":["HURPA综合征"],"definition":"高尿酸血症-肺动脉高压-肾功能衰竭-碱中毒综合征是一种罕见的遗传性线粒体疾病，以早期进行性肾功能衰竭为特征，表现为高尿酸血症、低钠血症、低镁血症、低氯代谢性碱中毒、血尿素氮升高和多尿，并伴有肺动脉高压、生长迟缓、全面发育迟缓、肌张力低下和心室肥厚等全身症状。本病的其他特征包括早产，血清乳酸升高，糖尿病，在某些情况下，全血细胞可减少。"},"tr":{"name":"Hiperürisemi-pulmoner hipertansiyon-böbrek yetmezliği-alkaloz sendromu","synonyms":["HUPRA sendromu"]}},"xrefs":[{"source":"OMIM","code":"613845","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013458","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3151209","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]},{"orpha":275853,"name":"Syndrome with pulmonary hypertension as a major feature","classifications":[184]}],"children":[],"genes":[{"symbol":"SARS2","name":"seryl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21255763[PMID]","hgnc":"17697","ensembl":"ENSG00000104835","omim":"612804","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"21255763[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}