{"orpha":505242,"name":"Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebrorenal syndrome, Perez type"],"definition":"A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-505242/","orphanet_url":"https://www.orpha.net/en/disease/detail/505242","names":{"fr":{"name":"Syndrome de régression psychomotrice-apraxie oculomotrice-anomalie du mouvement-néphropathie","synonyms":["Syndrome cérébrorénale, type Perez"],"definition":"Maladie génétique rare caractérisée par l'apparition d'une détérioration neurologique dans les deux premières années de la vie, évoluant vers une déficience intellectuelle sévère, une ataxie profonde, une dyskinésie légère, une hypotonie axiale, une camptocormie et une apraxie oculomotrice. Certains patients développent également une néphropathie avec des signes cliniques de néphrite tubulo-interstitielle, une hypertension et une tendance à l'hyperkaliémie."},"de":{"name":"Psychomotorische Regression-okulomotorische Apraxie-Bewegungsstörung-Nephropathie-Syndrom","synonyms":["Zerebro-renales Syndrom Typ Perez"],"definition":"Eine seltene genetisch bedingte Störung, die in den ersten beiden Lebensjahren zu einer neurologischen Verschlechterung führt, die sich in einer schweren Intelligenzminderung, einer ausgeprägten Ataxie, einer leichten Dyskinesie, einer axialen Hypotonie, einer Kamptokormie und einer okulomotorischen Apraxie äußert. Einige Patienten entwickeln auch eine Nephropathie mit Merkmalen einer tubulointerstitiellen Nephritis, Bluthochdruck und eine Tendenz zur Hyperkaliämie."},"es":{"name":"Síndrome de regresión psicomotor-apraxia oculomotora-trastornos del movimiento-nefropatía","synonyms":["Síndrome cerebrorrenal tipo Perez"],"definition":"Es una enfermedad genética poco frecuente caracterizada por un deterioro neurológico de inicio en los dos primeros años de vida, que progresa a una grave discapacidad intelectual, ataxia profunda, leve discinesia, hipotonía axial, camptocormia y apraxia oculomotora. Algunos pacientes también desarrollan nefropatía con hallazgos de nefritis tubulointersticial, hipertensión y tendencia a la hiperpotasemia."},"it":{"name":"Sindrome regressione psicomotoria - aprassia oculomotoria - disturbo del movimento - nefropatia","definition":"Si tratta di una malattia genetica rara, caratterizzata dal deterioramento neurologico ad esordio nei primi due anni di vita, che progredisce fino alla disabilità intellettiva grave, associata all'atassia profonda, alla lieve discinesia, all'ipotonia assiale, alla camptocormia e all'aprassia oculomotoria. Alcuni pazienti sviluppano anche una nefropatia con nefrite tubulointerstiziale, ipertensione e tendenza all'iperkaliemia."},"nl":{"name":"Psychomotorische regressie - oculomotorische apraxie - bewegingsstoornis - nefropathie-syndroom","synonyms":["Cerebro-renaal syndroom, Perez-type"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door aanvang van neurologische aftakeling tijdens de eerste twee levensjaren, gevolgd door progressie naar ernstige intellectuele achterstand, zeer ernstige ataxie, milde dyskinesie, axiale hypotonie, camptocormie, en oculomotorische apraxie. Sommige patiënten ontwikkelen ook nefropathie met kenmerken van tubulo-interstitiële nefritis, hypertensie, en neiging tot hyperkaliëmie."},"pt":{"name":"Síndrome de regressão psicomotora-apraxia oculomotora-doença do movimento-nefropatia"},"pl":{"name":"Zespół regresji psychomotorycznej, apraksji okoruchowej, zaburzenia ruchu i nefropatii","synonyms":["Zespół mózgowo-nerkowy, typ Pereza"]},"cs":{"name":"Syndrom zahrnující psychomotorický regres, okulomotorickou apraxii, poruchu pohybu a nefropatii","synonyms":["Cerebrorenální syndrom, Perezův typ"]},"uk":{"name":"Синдром психомоторної регресії-окуломоторної апраксії-рухових розладів-нефропатії","synonyms":["Цереброренальний синдром, тип Переса"],"definition":"A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalemia."},"zh":{"name":"精神运动性退行-眼球运动失用-运动障碍-肾病综合征","synonyms":["Perez型脑肾综合征"]},"tr":{"name":"Psikomotor regresyon-okülomotor apraksi-hareket bozukluğu-nefropati sendromu","synonyms":["Cerebro Renal sendromu, Perez tipi"]}},"xrefs":[{"source":"OMIM","code":"617595","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"44726","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568771","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":309845,"name":"Disorder of zinc metabolism and transport","classifications":[150,156]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":98688,"name":"Oculomotor apraxia","classifications":[156,189]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[],"genes":[{"symbol":"SLC30A9","name":"solute carrier family 30 member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28334855[PMID]","hgnc":"1329","ensembl":"ENSG00000014824","omim":"604604","loci":["4p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"28334855[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28334855[PMID]"}],"phenotypes":null}