{"orpha":300313,"name":"Congenital cataract-hearing loss-severe developmental delay syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital cataract-deafness-severe developmental delay syndrome","Huppke-Brendel syndrome","Lethal neurodegenerative disorder due to copper transport defect"],"definition":"Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300313/","orphanet_url":"https://www.orpha.net/en/disease/detail/300313","names":{"fr":{"name":"Syndrome de cataracte congénitale-surdité-retard de développement sévère","synonyms":["Neurodégénerescence létale par déficit du transport du cuivre","Syndrome de Huppke-Brendel"],"definition":"Maladie neurométabolique génétique létale rare caractérisée par une cataracte congénitale, une perte auditive neurosensorielle, un retard sévère du développement psychomoteur, une hypotonie musculaire sévère et généralisée, ainsi que par des anomalies du système nerveux central (à type d'hypoplasie cérébelleuse et cérébrale, d'hypomyélinisation et de larges espaces subarachnoïdiens), en présence d'un faible taux sérique de cuivre et de céruloplasmine. Des cas de nystagmus et de crises convulsives ont également été rapportés."},"de":{"name":"Kongenitale Katarakt-Schwerhörigkeit-Entwicklungsverzögerung-Syndrom","synonyms":["Huppke-Brendel-Syndrom","Letale neurodegenerative Krankheit durch Kupfer-Transport-Defekt"]},"es":{"name":"Síndrome de cataratas congénitas-hipoacusia-retraso grave del desarrollo","synonyms":["Síndrome de Huppke-Brendel","Síndrome de cataratas congénitas-sordera-retraso grave del desarrollo","Trastorno neurodegenerativo letal por un defecto de transporte del cobre"],"definition":"El síndrome de cataratas congénitas - pérdida auditiva - retraso grave del desarrollo es una enfermedad neurometabólica, letal, genética y poco frecuente, caracterizada por cataratas congénitas, pérdida auditiva neurosensorial, retraso grave del desarrollo psicomotor, hipotonía muscular generalizada y grave, así como anomalías del sistema nervioso central (que incluyen hipoplasia cerebral y cerebelosa, hipomielinización, amplios espacios subaracnoideos), en presencia de bajos niveles séricos de cobre y ceruloplasmina. También se han descrito nistagmo y convulsiones."},"it":{"name":"Sindrome cataratta congenita, sordità e grave ritardo dello sviluppo","synonyms":["Malattia neurodegenerativa letale da difetto del trasporto del rame","Sindrome cataratta congenita-sordità-grave ritardo dello sviluppo"],"definition":"La sindrome che associa la cataratta congenita, la sordità e il ritardo grave dello sviluppo è una malattia neurometabolica rara, genetica e letale, caratterizzata da cataratta congenita, sordità neurosensoriale, grave ritardo dello sviluppo psicomotorio, spiccata ipotonia muscolare generalizzata ed anomalie del sistema nervoso centrale (ipoplasia cerebellare e cerebrale, ipomielinizzazione, dilatazione degli spazi subaracnoidei), con livelli bassi di rame e ceruloplasmina nel siero. I pazienti possono presentare anche nistagmo e crisi epilettiche."},"nl":{"name":"Congenitaal cataract - gehoorverlies - ernstige ontwikkelingsachterstand-syndroom","synonyms":["Congenitaal cataract - doofheid - ernstige ontwikkelingsachterstand-syndroom","Letale neurodegeneratieve aandoening door defect van kopertransport","Syndroom van Huppke-Brendel"],"definition":"Congenitaal cataract - gehoorverlies - ernstige ontwikkelingsachterstand-syndroom is een zeldzame, genetische, letale, neurometabole ziekte die gekarakteriseerd wordt door congenitale cataracten, sensorineuraal gehoorverlies, ernstige psychomotorische ontwikkelingsachterstand, ernstige gegeneraliseerde musculaire hypotonie, en afwijkingen van het centrale zenuwstelsel (inclusief cerebellaire en cerebrale hypoplasie, hypomyelinisatie, brede subarachnoïdale ruimtes), in aanwezigheid van lage gehaltes van koper en ceruloplasmine in het serum. Nystagmus en insulten werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de catarata congénita-perda auditiva-perturbação grave do desenvolvimento"},"pl":{"name":"Zespół zaćma wrodzona - niedosłuch - ciężkie opóźnienie rozwoju","synonyms":["Śmiertelne zaburzenie neurodegeneracyjne z powodu defektu transportu miedzi","Zespół zaćma wrodzona-głuchota-znaczne opóźnienie rozwoju"],"definition":"*Zespół zaćma wrodzona - niedosłuch - ciężkie opóźnienie rozwoju jest rzadką, genetycznie uwarunkowaną, letalną chorobą neurometaboliczną, która charakteryzuje się wrodzoną zaćmą, niedosłuchem zmysłowo-nerwowym, ciężkim opóźnieniem rozwoju psychoruchowego, ciężką, uogólnioną hipotonią mięśniową i nieprawidłowościami ośrodkowego układu nerwowego (hipoplazja móżdżku i mózgu, hipomielinizacja, szerokie przestrzenie podpajęczynówkowe), z towarzyszącym niskim stężeniem miedzi i ceruloplazminy w surowicy. Opisywano także oczopląs i drgawki."},"cs":{"name":"Syndrom zahrnující vrozenou kataraktu, ztrátu sluchu a těžké opoždění vývoje","synonyms":["Syndrom zahrnující vrozenou kataraktu, hluchotu a těžké opoždění vývoje","Letální neurodegenerativní onemocnění způsobené poruchou transportu mědi"]},"uk":{"name":"Синдром вродженої катаракти-втрати слуху-тяжкої затримки розвитку","synonyms":["Синдром вродженої катаракти - глухоти - тяжкої затримки розвитку","Синдром Хупке-Бренделя","Летальний нейродегенеративний розлад через дефект транспорту міді"],"definition":"Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported."},"zh":{"name":"先天性白内障-听力损失-严重发育迟缓综合征","synonyms":["铜转运障碍所致致命性神经退行性病变"],"definition":"先天性白内障-听力损失-重度发育迟缓综合征是一种罕见的遗传性、致死性神经代谢性疾病，其特征是先天性白内障、感音神经性听力损失、重度精神运动发育迟缓、重度全身性肌张力减退，及中枢神经系统异常（包括小脑和大脑发育不良、髓鞘形成减少、蛛网膜下腔宽），伴血铜和铜蓝蛋白降低。眼球震颤和惊厥发作也有报道。"},"tr":{"name":"Doğumsal katarakt-işitme kaybı-ağır gelişme geriliği sendromu","synonyms":["Huppke-Brendel sendromu","Doğumsal katarakt-sağırlık-ağır gelişme geriliği sendromu","Bakır taşıma defektine bağlı letal nörodejeneratif bozukluk"]}},"xrefs":[{"source":"OMIM","code":"614482","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013772","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751114","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309839,"name":"Disorder of copper metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"SLC33A1","name":"solute carrier family 33 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22243965[PMID]","hgnc":"95","ensembl":"ENSG00000169359","omim":"603690","loci":["3q25.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"15902551[PMID]_22243965[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15902551[PMID]_22243965[PMID]"}],"phenotypes":null}