{"orpha":411543,"name":"Severe phosphoribosylpyrophosphate synthetase superactivity","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Severe PRPP synthetase superactivity","Severe PRPS1 superactivity"],"definition":"A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by early onset hyperuricemia and hyperuricosuria, and clinically manifesting with urolithiasis, gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss, hypotonia, and ataxia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411543/","orphanet_url":"https://www.orpha.net/en/disease/detail/411543","names":{"fr":{"name":"Hyperactivité de la phosphoribosylpyrophosphate synthétase sévère","synonyms":["Hyperactivité de la PRPP synthétase sévère","Hyperactivité de la PRPS1 sévère"],"definition":"Forme sévère d'hyperactivité de la phosphoribosylpyrophosphate (PRPP) synthétase, un trouble du métabolisme de la purine lié à l'X, caractérisé par une hyperuricémie et une hyperuricosurie précoces, se manifestant sur le plan clinique par une urolithiase, la goutte et des troubles neurodéveloppementaux consistant en des combinaisons variables de perte auditive neurosensorielle, d'hypotonie et d'ataxie."},"de":{"name":"Phosphoribosylpyrophosphat-Synthetase-Überaktivität, schwere","definition":"Eine schwere Form der Phosphoribosylpyrophosphat (PRPP)-Synthetase-Überaktivität, eine X-chromosomale Störung des Purinstoffwechsels, die durch eine früh einsetzende Hyperurikämie und Hyperurikosurie gekennzeichnet ist und sich klinisch durch Urolithiasis, Gicht und neurologische Entwicklungsanomalien, bestehend aus unterschiedlichen Kombinationen von sensorineuralem Hörverlust, Hypotonie und Ataxie, manifestiert."},"es":{"name":"Hiperactividad grave de la fosforribosilpirofosfato-sintetasa","synonyms":["Hiperactividad grave de la PRPP sintetasa","Hiperactividad grave de la PRPS1"],"definition":"Es una forma grave de hiperactividad de la fosforribosilpirofosfato (PRPP) sintetasa, un trastorno del metabolismo de las purinas ligado al cromosoma X caracterizado por hiperuricemia e hiperuricosuria de inicio temprano, y que se manifiesta clínicamente con urolitiasis, gota y anomalías del desarrollo neurológico que consisten en combinaciones variables de pérdida auditiva neurosensorial, hipotonía y ataxia."},"it":{"name":"Grave iperattività della fosforibosilpirofosfato sintetasi","synonyms":["Grave iperattività della PRPP sintetasi","Grave iperattività di PRPS1"],"definition":"Si tratta di una forma grave di iperattività della fosforibosilpirofosfato (PRPP) sintetasi, una malattia del metabolismo delle purine legata all'X, caratterizzata da iperuricemia e iperuricosuria ad esordio precoce. Dal punto di vista clinico, la malattia si manifesta con urolitiasi, gotta e anomalie dello sviluppo neurologico (sordità neurosensoriale, ipotonia e atassia in variabile associazione)."},"nl":{"name":"Ernstige fosforibosylpyrofosfaat-synthetase-superactiviteit","synonyms":["Ernstige PRPP-synthetase-superactiviteit","Ernstige PRPS1-superactiviteit"],"definition":"Een ernstige vorm van fosforibosylpyrofosfaat (PRPP)-synthetase-superactiviteit, een X-gebonden aandoening van purinemetabolisme, gekarakteriseerd door vroeg aanvangende hyperurikemie en hyperuricosurie, en zich klinisch manifesterend met urolithiasis, jicht en neurologische ontwikkelingsanomalieën bestaande uit variabele combinaties van sensorineuraal gehoorverlies, hypotonie en ataxie."},"pt":{"name":"Superactividade grave da fosforribosilpirofosfato sintetase"},"pl":{"name":"Ciężka nadczynność syntetazy fosforybozylopirofosforanu","synonyms":["Ciężka nadczynność PRPS1","Ciężka nadczynność syntetazy PRPP"]},"cs":{"name":"Významně zvýšená aktivita fosforibosylpyrofosfátsyntetázy","synonyms":["Težká superaktivita PRPS1","Těžká superaktivita PRPP syntetázy","Těžká superaktivita PRPS1"]},"uk":{"name":"Виражена суперактивність фосфорибозилпірофосфатсинтетази","synonyms":["Виражена суперактивність PRPP-синтетази","Сильна суперактивність PRPS1"],"definition":"A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by early onset hyperuricemia and hyperuricosuria, and clinically manifesting with urolithiasis, gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss, hypotonia, and ataxia."},"zh":{"name":"严重磷酸核糖焦磷酸合成酶超活性","synonyms":["重度PRPP合成酶超活性"],"definition":"磷酸核糖焦磷酸（PRPP）合成酶活性异常增高的一种严重疾病，是一种与X连锁的嘌呤代谢紊乱，其特征是早发性高尿酸血症和尿酸尿过多，临床表现为尿路结石症，痛风和神经发育异常，包括感觉神经性听力减退，肌张力减退和可变性组合共济失调。"},"tr":{"name":"Ağır fosforibosilpirofosfat sentetaz süperaktivitesi","synonyms":["Ağır PRPS1 süperaktivitesi","Ağır 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":"0018464","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680017","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"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) (gain of function) in","status":"Assessed","source":"20301734[PMID]","hgnc":"9462","ensembl":"ENSG00000147224","omim":"311850","loci":["Xq22.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"20301734[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":33.0,"area":"Worldwide","status":"Validated","source":"20301734[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-20","source":"20301734[PMID]_20005278[PMID]_26089585[PMID]","terms":[{"hpo":"HP:0001997","label":"Gout","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003240","label":"Increased phosphoribosylpyrophosphate synthetase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012759","label":"Neurodevelopmental abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000791","label":"Uric acid nephrolithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","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:0003149","label":"Hyperuricosuria","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:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very rare (<4-1%)","criteria":null}]}}