{"orpha":411536,"name":"Mild phosphoribosylpyrophosphate synthetase superactivity","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Mild PRPP synthetase superactivity","Mild PRPS1 superactivity"],"definition":"A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411536/","orphanet_url":"https://www.orpha.net/en/disease/detail/411536","names":{"fr":{"name":"Hyperactivité de la phosphoribosylpyrophosphate synthétase modérée","synonyms":["Hyperactivité de la PRPP synthétase modérée","Hyperactivité de la PRPS1 modérée"],"definition":"Forme légère d'hyperactivité de la phosphoribosylpyrophosphate synthétase (PRPP), un trouble du métabolisme de la purine lié à l'X, caractérisé par une hyperuricémie et une hyperuricosurie à l'adolescence ou au début de l'âge adulte, entraînant une urolithiase et la goutte."},"de":{"name":"Phosphoribosylpyrophosphat-Synthetase-Überaktivität, milde","definition":"Eine milde Form der Phosphoribosylpyrophosphat (PRPP)-Synthetase-Überaktivität, einer X-chromosomalen Störung des Purinstoffwechsels, die im Jugendalter oder im frühen Erwachsenenalter zu Hyperurikämie und Hyperurikosurie und damit zu Urolithiasis und Gicht führt."},"es":{"name":"Hiperactividad leve de la fosforibosilpirofosfato sintetasa","synonyms":["Hiperactividad leve de la PRPP sintetasa","Hiperactividad leve de la PRPS1"],"definition":"Es una forma leve de hiperactividad de la fosforribosilpirofosfato (PRPP) sintetasa, un trastorno del metabolismo de las purinas ligado al cromosoma X que se caracteriza por hiperuricemia e hiperuricosuria de debut en la adolescencia o en la edad adulta temprana y que conduce a urolitiasis y gota."},"it":{"name":"Lieve iperattività della fosforibosilpirofosfato sintetasi","synonyms":["Lieve iperattività della PRPP sintetasi","Lieve iperattività di PRPS1"],"definition":"La lieve iperattività della fosforibosilpirofosfato (PRPP) sintetasi, una malattia del metabolismo delle purine legata all'X, è caratterizzata da iperuricemia e iperuricosuria ad esordio nell'adolescenza o nella prima età adulta, che esita nell'urolitiasi e nella gotta."},"nl":{"name":"Milde fosforibosylpyrofosfaat-synthetase-superactiviteit","synonyms":["Milde PRPP-synthetase-superactiviteit","Milde PRPS1-superactiviteit"],"definition":"Een milde vorm van fosforibosylpyrofosfaat (PRPP)-synthetase-superactiviteit, een X-gebonden aandoening van purinemetabolisme, gekarakteriseerd door aanvang in de adolescentie of vroege volwassenheid van hyperurikemie en hyperuricosurie, met urolithiasis en jicht tot gevolg."},"pt":{"name":"Hiperatividade ligeira da fosforribosilpirofosfatase sintetase","synonyms":["Hiperatividade ligeira da PRPS1","Hiperatividade ligeira da PRPP sintetase"]},"pl":{"name":"Łagodna nadczynność syntetazy fosforybozylopirofosforanu","synonyms":["Łagodna nadczynność PRPS1","Łagodna nadczynność syntetazy PRPP"]},"cs":{"name":"Mírně zvýšená aktivita fosforibosylpyrofosfátsyntetázy","synonyms":["Mírná superaktivita PRPP syntetázy","Mírná superaktivita PRPS1"]},"uk":{"name":"Помірна суперактивність фосфорибозилпірофосфатсинтетази","synonyms":["Помірна суперактивність PRPP-синтетази","Помірна суперактивність PRPS1"],"definition":"A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout."},"zh":{"name":"轻度磷酸核糖焦磷酸合成酶超活性","synonyms":["轻度PRPP合成酶超活性"],"definition":"轻度的磷酸核糖焦磷酸（PRPP）合成酶活性异常提高，X连锁的嘌呤代谢异常疾病，特征是青春期或成年初期的高尿酸血症和高尿酸尿症，导致尿路结石和痛风。"},"tr":{"name":"Hafif fosforibosilpirofosfat sentetaz süperaktivitesi","synonyms":["Hafif PRPS1 süperaktivitesi","Hafif 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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018463","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680016","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":3222,"name":"Phosphoribosylpyrophosphate synthetase superactivity","classifications":[150,156,181,188]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-20","source":"30423175[PMID]_20301734[PMID]_26089585[PMID]","terms":[{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003149","label":"Hyperuricosuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003240","label":"Increased phosphoribosylpyrophosphate synthetase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020074","label":"Crystalluria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000791","label":"Uric acid nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012626","label":"Stage 4 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Excluded (0%)","criteria":null}]}}