{"orpha":79233,"name":"Hypoxanthine guanine phosphoribosyltransferase partial deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HPRT deficiency, grade I","HPRT partial deficiency","HPRT-related gout","HPRT-related hyperuricemia","HPRT1 partial deficiency","Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency","Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I","Kelley-Seegmiller syndrome"],"definition":"A rare hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency characterized by uric acid overproduction leading to urolithiasis, and early-onset gout, and a continuum spectrum of neurological manifestations, depending on the degree of the enzyme deficiency, without self-injurious behavior.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79233/","orphanet_url":"https://www.orpha.net/en/disease/detail/79233","names":{"fr":{"name":"Déficit partiel en hypoxanthine guanine phosphoribosyltransférase","synonyms":["Déficit en HPRT grade I","Déficit en hypoxanthine-guanine phosphoribosyltransferase grade I","Déficit partiel en HPRT","Déficit partiel en HPRT1","Déficit partiel en hypoxanthine guanine phosphoribosyltransférase 1","Goutte associée à HPRT","Hyperuricémie associée à HPRT","Syndrome de Kelley-Seegmiller"],"definition":"Le syndrome de Kelley-Seegmiller (SKS) est la forme la plus légère du déficit en hypoxanthine-guanine phosphoribosyl-transférase (HGPRT), une maladie héréditaire du métabolisme des purines, et il se manifeste par une surproduction en acide urique (SAU) avec lithiase et goutte précoce."},"de":{"name":"Kelley-Seegmiller-Syndrom","synonyms":["HPRT-Mangel, Grad I","HPRT-Mangel, partieller","Hyperurikämie, HPRT-abhängige","Hypoxanthin-Guanin-Phosphoribosyltransferase-1-Mangel, partieller","Hypoxanthin-Guanin-Phosphoribosyltransferase-Mangel, partieller"],"definition":"Das Kelley-Seegmiller-Syndrom (KSS) ist die leichteste Form des Hypoxanthin-Guanin- Phosphoribosyltransferase (HPRT)-Mangels (s. dort), einer erblichen Erkrankung des Purinstoffwechsels mit Überproduktion von Harnsäure (UAO), die zu Urolithiasis und früh beginnender Gicht führt."},"es":{"name":"Síndrome de Kelley-Seegmiller","synonyms":["Deficiencia de HPRT, grado 1","Deficiencia de hipoxantina guanina fosforribosil transferasa, grado 1","Deficiencia parcial de HPRT","Deficiencia parcial de HPRT1","Deficiencia parcial de hipoxantina guanina fosforribosil transferasa","Deficiencia parcial de hipoxantina guanina fosforribosil transferasa 1","Gota asociada a HPRT","Hiperuricemia asociada a HPRT"],"definition":"El síndrome de Kelley-Seegmiller (KSS) es la forma más leve del déficit de Hipoxantina-guanina-fosforribosil-transferasa (HPRT), un trastorno hereditario del metabolismo de las purinas, asociado a la sobreproducción de ácido úrico (AU) que conduce a urolitiasis, y a la aparición temprana de gota."},"it":{"name":"Sindrome di Kelley-Seegmiller","synonyms":["Deficit parziale di HPRT","Deficit parziale di HPRT1","Deficit parziale di ipoxantina guanina fosforibosil transferasi","Deficit parziale di ipoxantina guanina fosforibosil transferasi I","Gotta associata a HPRT","Iperuricemia associata a HPRT","Deficit di HPRT, grado I","Deficit di ipoxantina guanina fosforibosil transferasi, grado I"]},"nl":{"name":"Partiële deficiëntie van hypoxanthine-guanine-fosforibosyltransferase","synonyms":["Deficiëntie van hypoxanthine-guanine-fosforibosyltransferase, graad I","HPRT-deficiëntie, graad I","HPRT-gerelateerd jicht","HPRT-gerelateerde hyperurikemie","Partiële HPRT-deficiëntie","Partiële HPRT1-deficiëntie","Partiële deficiëntie van hypoxanthine-guanine-fosforibosyltransferase 1","Syndroom van Kelley-Seegmiller"],"definition":"Een zeldzame deficiëntie van hypoxanthine-guanine-fosforibosyltransferase (HPRT), gekenmerkt door overproductie van urinezuur die leidt tot urolithiase en vroeg optredend jicht, en een continu spectrum van neurologische manifestaties, afhankelijk van de mate van enzymdeficiëntie, zonder zelfverwonding."},"pt":{"name":"Síndrome Kelley-Seegmiller","definition":"A síndrome de Kelley-Seegmiller (KSS) é a forma mais ligeira da deficiência de hipoxantina-guanina fosforibosiltransferase (HPRT) (ver este termo), uma patologia hereditária do metabolismo das purinas, e está associada à sobreprodução de ácido úrico (SAU), levando a urolitíase e gota de início precoce."},"pl":{"name":"Zespół Kelley'a i Seegmillera","synonyms":["Częściowy Niedobór fosforybozylotransferazy hipoksantynowo-guaninowej","Częściowy Niedobór fosforybozylotransferazy hipoksantynowo-guaninowej 1","Częściowy Niedobór HPRT","Częściowy Niedobór HPRT1","HPRT-związana z hiperurykemią","HPRT-związane z jelitami","Niedobór fosforybozylotransferazy hipoksantynowo-guaninowej, stopień I","Niedobór HPRT, stopień I"]},"cs":{"name":"Částečný deficit hypoxantin-guanin-fosforibosyltransferázy","synonyms":["HPRT-vázaná dna","HPRT-vázaná hyperurikémie","Parciální deficit HPRT1","Deficit HPRT, stupeň I","Částečný deficit HPRT","Částečný deficit hypoxantin-guanin-fosforibosyltransferázy 1","Deficit hypoxantin-guanin-fosforibosyltransferázy, stupeň I","Kelleyho-Seegmillerův syndrom","Kelley-Seegmillerův syndrom"]},"uk":{"name":"Часткова недостатність гіпоксантин-гуанін-фосфорибозилтрансферази","synonyms":["Дефіцит HPRT, ступінь I","Часткова недостатність HPRT","Часткова недостатність HPRT1","Подагра, повязана з HPRT","Гіперурикемія, повязана з HPRT","Частковий дефіцит гіпоксантин-гуанін-фосфорибозилтрансферази 1","Дефіцит гіпоксантин-гуанін-фосфорибозилтрансферази, ступінь I","Синдром Келлі-Сігміллера"],"definition":"Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout."},"zh":{"name":"次黄嘌呤-鸟嘌呤磷酸核糖基转移酶部分缺陷症","synonyms":["次黄嘌呤-鸟嘌呤磷酸核糖基转移酶1部分缺乏"]},"tr":{"name":"Hipoksantin guanin fosforiboziltransferaz kısmi eksikliği","synonyms":["HPRT-ilişkili gut","HPRT kısmi eksikliği","HPRT eksikliği, seviye I","HPRT1 kısmi eksikliği","HPRT-ilişkili hiperürisemi","Kelley-Seegmiller sendromu","Hipoksantin guanin fosforibosiltransferaz eksikliği, derece I","Hipoksantin guanin fosforibosiltransferaz 1 kısmi eksikliği"]}},"xrefs":[{"source":"OMIM","code":"300323","qualifier":"E","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":"1094084865"},{"source":"MONDO","code":"0010299","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562583","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268117","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":206428,"name":"Hypoxanthine-guanine phosphoribosyltransferase deficiency","classifications":[150,156,181,188,194,233]}],"children":[],"genes":[{"symbol":"HPRT1","name":"hypoxanthine phosphoribosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10657589[PMID]_26073243[PMID]","hgnc":"5157","ensembl":"ENSG00000165704","omim":"308000","loci":["Xq26.2-q26.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-13","source":"5009592[PMID]_17687757[PMID]_18067674[PMID]_25420563[PMID]_28782500[PMID]","terms":[{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003149","label":"Hyperuricosuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001997","label":"Gout","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012587","label":"Macroscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000791","label":"Uric acid nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Excluded (0%)","criteria":null}]}}