{"orpha":534,"name":"Oculocerebrorenal syndrome of Lowe","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lowe disease","Lowe oculo-cerebro-renal dystrophy","Lowe oculo-cerebro-renal syndrome","Lowe oculocerebrorenal dystrophy","Lowe syndrome","OCRL"],"definition":"A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-534/","orphanet_url":"https://www.orpha.net/en/disease/detail/534","names":{"fr":{"name":"Syndrome oculo-cérébro-rénal de Lowe","synonyms":["Dystrophie oculo-cérébro-rénale de Lowe","Maladie de Lowe","OCRL","Syndrome de Lowe"],"definition":"Maladie multisystémique rare caractérisée par une cataracte congénitale, un glaucome, une déficience intellectuelle, des convulsions, un retard de croissance postnatale et un dysfonctionnement des tubules rénaux associé à une insuffisance rénale chronique."},"de":{"name":"Okulo-zerebro-renales Syndrom Lowe","synonyms":["Dystrophie, okulo-zerebro-renale, Typ Lowe","Lowe-Krankheit","Lowe-Syndrom","OCRL"],"definition":"Eine seltene Multisystemerkrankung, die durch kongenitale Katarakte, Glaukom, Intelligenzminderungen, Krampfanfälle, postnatale Wachstumsverzögerung und renale tubuläre Dysfunktion mit chronischem Nierenversagen gekennzeichnet ist."},"es":{"name":"Síndrome oculocerebrorrenal de Lowe","synonyms":["Síndrome óculo-cerebro-renal de Lowe","Distrofia oculocerebrorrenal de Lowe","Distrofia óculo-cerebro-renal de Lowe","Enfermedad de Lowe","OCRL","Síndrome de Lowe"],"definition":"Es un trastorno multisistémico poco frecuente caracterizado por cataratas congénitas, glaucoma, discapacidad intelectual, retraso del crecimiento postnatal y disfunción de los túbulos renales con insuficiencia renal crónica."},"it":{"name":"Sindrome oculocerebrorenale di Lowe","synonyms":["Distrofia oculo-cerebro-renale di Lowe","Malattia di Lowe","OCRL","Sindrome di Lowe","Sindrome oculo-cerebro-renale di Lowe","Distrofia oculocerebrorenale di Lowe"],"definition":"La sindrome oculo-cerebro-renale di Lowe (OCRL) è una malattia multisistemica rara, caratterizzata da cataratta congenita, glaucoma, disabilità intellettiva, crisi epilettiche, ritardo della crescita postnatale e disfunzione tubulare renale associata a insufficienza renale cronica."},"nl":{"name":"Oculocerebrorenaal syndroom van Lowe","synonyms":["Ziekte van Lowe","Oculocerebrorenale dystrofie van Lowe","Oculo-cerebro-renaal syndroom van Lowe","Syndroom van Lowe","OCRL","Oculo-cerebro-renale dystrofie van Lowe"],"definition":"Een zeldzame, multisystemische aandoening, gekarakteriseerd door congenitale cataracten, glaucoom, intellectuele achterstand, insulten, postnatale groeiretardatie en disfunctie van niertubuli met chronisch nierfalen."},"pt":{"name":"Síndrome óculo-cerebro-renal de Lowe","synonyms":["Síndrome Lowe"]},"pl":{"name":"Zespół oczno-mózgowo-nerkowy Lowe'a","synonyms":["Niedobór 5-fosfatazy fosfatydyloinozytolo-4,5-bisfosforanu","Choroba Lowe'a","Dystrofia oczno-mózgowo-nerkowa","OCR","OCRL","Oculocerebrorenal dystrophy","Zespół Lowe'a","Zespół oczno-mózgowo-nerkowy"],"definition":"Zespół oczno-mózgowo-nerkowy Lowe’a (Oculocerebrorenal syndrome of Lowe – OCRL) to zaburzenie wieloukładowe charakteryzujące się zaćmą wrodzoną, jaskrą, niepełnosprawnością intelektualną, postnatalnym opóźnieniem wzrostu oraz dysfunkcją kanalików nerkowych z przewlekłą niewydolnością nerek."},"cs":{"name":"Loweho okulocerebrorenální syndrom","synonyms":["Loweho nemoc","Okulocerebrorenální syndrom - Lowe","OCR","OCRL","Okulocerebrorenální dystrofie","Okulocerebrorenální syndrom","Deficit fosfatidylinositol 4,5-bifosfát 5-fosfatázy","Loweův syndrom"]},"uk":{"name":"Окулоцереброренальний синдром Лоу","synonyms":["Хвороба Лоу","Окулоцереброренальна дистрофія Лоу","Окуло-церебро-ренальна дистрофія Лоу","Окуло-церебро-нирковий синдром Лоу","Синдром Лоу","OCRL","Дефіцит фосфатидилінозитол 4,5-біфосфат 5-фосфатази"],"definition":"A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure."},"zh":{"name":"Lowe眼脑肾综合征","synonyms":["磷脂酰肌醇-4，5-二磷酸-5-磷酸酶缺乏症"]},"tr":{"name":"Lowe'nin oküloserebrorenal sendromu","synonyms":["OCRL","Lowe hastalığı","Lowe sendromu","Lowe oküloserebrorenal distrofi","Lowe okülo-serebro-renal sendrom","Lowe okülo-serebro-renal distrofi","Fosfatidilinositol 4,5-bifosfat 5-fosfataz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"309000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C60.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1392767390"},{"source":"MeSH","code":"D009800","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0028860","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3295","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051707","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79166,"name":"Disorder of amino acid absorption and transport","classifications":[150,156]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":98646,"name":"Renal disease with cataract","classifications":[156,189]}],"children":[],"genes":[{"symbol":"OCRL","name":"OCRL inositol polyphosphate-5-phosphatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301653[PMID]","hgnc":"8108","ensembl":"ENSG00000122126","omim":"300535","loci":["Xq26.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Worldwide","status":"Not yet validated","source":"16722554[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"16722554[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"United Kingdom","status":"Validated","source":"21152085[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000615","label":"Abnormal pupil 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(99-80%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002049","label":"Proximal renal tubular acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100530","label":"Abnormality of calcium-phosphate metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100835","label":"Benign neoplasm of the central nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000557","label":"Buphthalmos","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007513","label":"Generalized hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000843","label":"Hyperparathyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent 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concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011527","label":"Lentiglobus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional 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(29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100589","label":"Urogenital fistula","frequency":"Occasional (29-5%)","criteria":null}]}}