{"orpha":330054,"name":"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome"],"definition":"A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-330054/","orphanet_url":"https://www.orpha.net/en/disease/detail/330054","names":{"fr":{"name":"Syndrome de cataracte congénitale-hypotonie musculaire progressive-surdité-retard de développement","definition":"Myopathie mitochondriale génétique rare caractérisée par une cataracte congénitale, une hypotonie musculaire progressive touchant particulièrement les membres inférieurs, une diminution des réflexes tendineux profonds, une surdité neurosensorielle, un retard de développement global et une acidose lactique. La biopsie musculaire met en évidence une activité réduite de la chaîne respiratoire des complexes I, II et IV."},"de":{"name":"Kongenitale Katarakt-progressive Muskelhypotonie-Hörverlust-Entwicklungsverzögerung-Syndrom"},"es":{"name":"Síndrome de catarata congénita-hipotonía muscular progresiva-hipoacusia-retraso del desarrollo","synonyms":["Síndrome de catarata congénita-hipotonía muscular progresiva-sordera-retraso del desarrollo"],"definition":"Es un trastorno de miopatía mitocondrial, genético y poco frecuente, caracterizado por cataratas congénitas, hipotonía muscular progresiva que afecta particularmente a las extremidades inferiores, reflejos tendinosos profundos reducidos, pérdida auditiva neurosensorial, retraso global del desarrollo y acidosis láctica. La biopsia muscular revela una actividad reducida de los complejos I, II y IV de la cadena respiratoria."},"it":{"name":"Sindrome da cataratta congenita, ipotonia muscolare progressiva, sordità e ritardo dello sviluppo","synonyms":["Cataratta congenita - ipotonia muscolare progressiva - sordità - ritardo dello sviluppo"],"definition":"La sindrome che associa la cataratta congenita, l'ipotonia muscolare progressiva, la sordità e il ritardo dello sviluppo è una miopatia mitocondriale genetica rara, caratterizzata da cataratta congenita, ipotonia muscolare progressiva che interessa soprattutto gli arti inferiori, riduzione dei riflessi tendinei profondi, sordità neurosensoriale, ritardo dello sviluppo globale ed acidosi lattica. La biopsia muscolare evidenzia una riduzione dell'attività dei complessi I, II e IV della catena respiratoria mitocondriale."},"nl":{"name":"Congenitaal cataract - progressieve spierhypotonie - gehoorverlies - ontwikkelingsachterstand-syndroom","synonyms":["Congenitaal cataract - progressieve spierhypotonie - doofheid - ontwikkelingsachterstand-syndroom"],"definition":"Congenitaal cataract - progressieve musculaire hypotonie - gehoorverlies - ontwikkelingsachterstand-syndroom is een zeldzame, genetische, mitochondriale myopathie die gekarakteriseerd wordt door congenitaal cataract, progressieve musculaire hypotonie van voornamelijk de onderste ledematen, verminderde diepe peesreflexen, sensorineuraal gehoorverlies, algehele ontwikkelingsachterstand en lactaatacidose. Analyse van spierbiopten toont verminderde activiteit van ademhalingsketencomplexen I, II en IV."},"pt":{"name":"Síndrome de catarata congénita-hipotonia muscular progressiva-perda auditiva-perturbação do desenvolvimento","synonyms":["Síndrome de catarata congénita-hipotonia muscular progressiva-surdez-perturbação do desenvolvimento"]},"pl":{"name":"Zaćma wrodzona - postępująca hipotonia mięśni - utrata słuchu - opóźnienie rozwoju","synonyms":["Zaćma wrodzona - postępująca hipotonia mięśni - głuchota - opóźnienie rozwoju"]},"cs":{"name":"Syndrom zahrnující vrozenou kataraktu, progresivní svalovou hypotonii, ztrátu sluchu a vývojové opoždění","synonyms":["Syndrom zahrnující vrozenou kataraktu, progresivní svalovou hypotonii, hluchotu a vývojové opoždění"]},"uk":{"name":"Синдром вродженої катаракти-прогресуючої мязової гіпотонії-втрати слуху-затримки розвитку","synonyms":["Синдром вродженої катаракти - прогресуючої мязової гіпотонії - глухотиа - затримки розвитку"],"definition":"A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity."},"zh":{"name":"先天性白内障-进行性肌张力减退-听力丧失-发育迟缓综合征","synonyms":["先天性白内障-进行性肌张力减退-耳聋-发育迟缓综合征"],"definition":"先天性白内障-进行性肌张力减退性-听力障碍-发育迟缓综合征是一种罕见的遗传性线粒体肌病疾病，其特征是先天性白内障，进行性肌张力减退尤其影响下肢，深部肌腱反射减弱，感音神经性听力障碍，整体发育迟缓和乳酸性酸中毒。肌肉活检显示复合物I、II和IV呼吸链活性降低。"},"tr":{"name":"Doğumsal katarakt-ilerleyici kas hipotoni-işitme kaybı-gelişme geriliği sendromu","synonyms":["Doğumsal katarakt-ilerleyici kas hipotoni-sağırlık-gelişme geriliği sendromu"]}},"xrefs":[{"source":"OMIM","code":"613076","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013116","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750835","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10522","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":2443,"name":"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","classifications":[150,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"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":"GFER","name":"growth factor, augmenter of liver regeneration","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19409522[PMID]","hgnc":"4236","ensembl":"ENSG00000127554","omim":"600924","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"19409522[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-28","source":"19409522[PMID]","terms":[{"hpo":"HP:0030089","label":"Abnormal muscle fiber protein expression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012343","label":"Decreased serum ferritin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001583","label":"Rotary nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Excluded (0%)","criteria":null}]}}