{"orpha":3222,"name":"Phosphoribosylpyrophosphate synthetase superactivity","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PRPP synthetase superactivity","PRPS1 superactivity"],"definition":"A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3222/","orphanet_url":"https://www.orpha.net/en/disease/detail/3222","names":{"fr":{"name":"Hyperactivité de la phosphoribosylpyrophosphate synthétase","synonyms":["Activité accrue de la PRPP synthétase","Activité accrue de la phosphoribosylpyrophosphatase synthétase","Hyperactivité de la PRPP synthétase"],"definition":"Trouble rare lié à l'X du métabolisme de la purine, associé à l'hyperuricémie et à l'hyperuricosurie, se manifestant sous deux formes : une forme grave à apparition précoce caractérisée par la goutte, l'urolithiase et des anomalies du développement neurologique, et une forme légère à apparition tardive sans atteinte neurologique."},"de":{"name":"Phosphoribosylpyrophosphat-Synthetase-Überaktivität","synonyms":["PRPP-Synthetase-Überaktivität","PRPS1-Überaktivität"],"definition":"Eine seltene X-chromosomale Störung des Purinstoffwechsels, die mit Hyperurikämie und Hyperurikosurie einhergeht und zwei Formen umfasst: eine früh auftretende schwere Form, die durch Gicht, Urolithiasis und neurologische Entwicklungsstörungen gekennzeichnet ist, und eine milde, spät auftretende Form ohne neurologische Beteiligung."},"es":{"name":"Hiperactividad de la fosforribosilpirofosfato-sintetasa","synonyms":["Hiperactividad de la PRPP sintetasa","Hiperactividad de la PRPS1"],"definition":"Es un trastorno del metabolismo de las purinas poco frecuente ligado al cromosoma X asociado con hiperuricemia e hiperuricosuria, e integrado por dos formas: una forma grave de inicio temprano caracterizada por gota, urolitiasis y anomalías del desarrollo neurológico, y una forma leve de inicio tardío sin compromiso neurológico."},"it":{"name":"Iperattività della fosforibosilpirofosfato sintetasi","synonyms":["Iperattività di PRPP sintetasi","Iperattività di PRPS1"],"definition":"L'iperattività della fosforibosilpirofosfato (PRPP) sintetasi è una malattia rara del metabolismo delle purine legata all'X, caratterizzata da iperuricemia e iperuricosuria. Se ne conoscono due forme: una grave, ad esordio precoce, caratterizzata da gotta, urolitiasi e anomalie dello sviluppo neurologico, e una lieve, ad esordio tardivo, senza compromissione neurologica."},"nl":{"name":"Fosforibosylpyrofosfaat-synthetase-superactiviteit","synonyms":["PRPP-synthetase-superactiviteit","PRPS1-superactiviteit"],"definition":"Een zeldzame, X-gebonden aandoening van purinemetabolisme geassocieerd met hyperurikemie en hyperuricosurie, bestaande uit twee vormen: een ernstige vorm met vroege aanvang gekarakteriseerd door jicht, urolithiasis en neurologische ontwikkelingsanomalieën, en een milde vorm met late aanvang zonder neurologische betrokkenheid."},"pt":{"name":"Hiperatividade da fosforribosilpirofosfato sintetase","synonyms":["Hiperatividade de PRPP","Hiperatividade de PRPS1"],"definition":"Uma doença rara ligada ao cromossoma X, que afeta o metabolismo das purinas e está associada a hiperuricemia e hiperuricosúria. Apresenta duas formas: uma forma grave de início precoce, caracterizada por gota, urolitíase e anomalias do desenvolvimento neurológico, e uma forma ligeira de início tardio, sem envolvimento neurológico."},"pl":{"name":"Nadczynność syntetazy fosforybozylo-pirofosforanowej","synonyms":["Nadczynność syntetazy PRPP","PRPS1 superactivity"]},"cs":{"name":"Superaktivita fosforibosylpyrofosfátsyntetázy","synonyms":["Superaktivita PRPP syntetázy","PRPS1 superaktivita"]},"uk":{"name":"Суперактивність фосфорибозилпірофосфатсинтетази","synonyms":["Суперактивність PRPP-синтетази","Суперактивність PRPS1"],"definition":"A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement."},"zh":{"name":"磷酸核糖焦磷酸合成酶超活性","synonyms":["PRPP合成酶超活性"]},"tr":{"name":"Fosforibosilpirofosfat sentetaz süperaktivitesi","synonyms":["PRPS1 süperaktivitesi","PRPP sentetaz süperaktivitesi"]}},"xrefs":[{"source":"OMIM","code":"300661","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C55.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1484121955"},{"source":"MONDO","code":"0010395","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567064","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970827","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4337","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":411536,"name":"Mild phosphoribosylpyrophosphate synthetase superactivity","type":"Clinical subtype"},{"orpha":411543,"name":"Severe phosphoribosylpyrophosphate synthetase superactivity","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"PRPS1","name":"phosphoribosyl pyrophosphate synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301734[PMID]","hgnc":"9462","ensembl":"ENSG00000147224","omim":"311850","loci":["Xq22.3"],"via":{"orpha":411543,"name":"Severe phosphoribosylpyrophosphate synthetase superactivity"}},{"symbol":"PRPS1","name":"phosphoribosyl pyrophosphate synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301734PMID]","hgnc":"9462","ensembl":"ENSG00000147224","omim":"311850","loci":["Xq22.3"],"via":{"orpha":411536,"name":"Mild phosphoribosylpyrophosphate synthetase superactivity"}}],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"23190330[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-12","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}