{"orpha":478049,"name":"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-478049/","orphanet_url":"https://www.orpha.net/en/disease/detail/478049","names":{"fr":{"name":"Syndrome létal de non-compaction ventriculaire gauche-convulsions-hypotonie-cataracte-retard de développement","definition":"Une maladie génétique neurométabolique rare caractérisée par un retard de développement global, une hypotonie sévère, des convulsions, des cataractes, une cardiomyopathie (incluant une hypertrophie biventriculaire ou ventriculaire gauche, une cardiomyopathie dilatée) et une non-compaction ventriculaire gauche, conduisant typiquement à un décès dans la petite enfance ou tôt pendant l'enfance. Les patients présentent habituellement une acidose lactique métabolique, un retard de croissance staturo-pondérale, un mauvais port de tête, des troubles respiratoires et une diminution de l'activité des complexes de la chaîne respiratoire. Des anomalies cérébrales très variables ont été rapportées et incluent une microcéphalie, des espaces proéminents de liquide céphalo-rachidien extra-axial, une perte neuronale diffuse et une gliose corticale/de la substance blanche."},"de":{"name":"Letale linksventrikuläre Noncompaction-Kardiomyopathie-Krämpfe-Hypotonie-Katarakt-Entwicklungsverzögerung-Syndrom","definition":"Eine seltene, genetische, neurometabolische Erkrankung, die durch eine globale Entwicklungsverzögerung, schwere Hypotonie, Krampfanfälle, Katarakte, Kardiomyopathie (einschließlich links- oder biventrikulärer Hypertrophie, dilatativer Kardiomyopathie) und linksventrikuläre Noncompaction gekennzeichnet ist und typischerweise zum Tod im Säuglings- oder frühen Kindesalter führt. Die Patienten zeigen in der Regel eine metabolische Laktatazidose, Gedeihstörung, Kopfschiefstand, Atmungsprobleme und eine Abnahme der Aktivität des Atmungskettenkomplexes. Es wurden sehr unterschiedliche zerebrale Anomalien berichtet, darunter Mikrozephalie, prominente extraaxiale Liquorräume, diffuser neuronaler Verlust und Gliose in der kortikalen/weißen Substanz."},"es":{"name":"Síndrome letal de no compactación del ventrículo izquierdo-crisis-hipotonía-cataratas-retraso del desarrollo","definition":"Es una enfermedad neurometabólica hereditaria caracterizada por un retraso global del desarrollo, grave hipotonía, convulsiones, cataratas, miocardiopatía (incluyendo hipertrofia ventricular izquierda o bi-ventricular, miocardiopatía dilatada) y no compactación del ventrículo izquierdo, que generalmente resulta en fallecimiento en la lactancia o primera infancia. Los afectados suelen presentar acidosis metabólica láctica, fallo de medro, retraso del sostén cefálico, problemas respiratorios y disminución de la actividad del complejo de la cadena respiratoria. También se han descrito anomalías cerebrales muy variadas, incluyendo microcefalia, aumento del líquido cefalorraquídeo en los espacios extra-axiales, pérdida neuronal difusa y gliosis de la sustancia blanca / cortical."},"it":{"name":"Sindrome letale ventricolo sinistro non compatto - crisi epilettiche - ipotonia - cataratta - ritardo dello sviluppo","definition":"La sindrome letale da ventricolo sinistro non compatto, crisi epilettiche, ipotonia, cataratta e ritardo dello sviluppo è una malattia neurometabolica genetica rara, caratterizzata da ritardo dello sviluppo globale, ipotonia grave, crisi epilettiche, cataratta, cardiomiopatia (ipertrofia del ventricolo sinistro o biventricolare, cardiomiopatia dilatativa) e ventricolo sinistro non compatto, che di solito esitano nel decesso in epoca neonatale o nella prima infanzia. Di solito i pazienti presentano acidosi lattica metabolica, ritardo dello sviluppo, incapacità di tenere la testa diritta, problemi respiratori e riduzione dell'attività del complesso della catena respiratoria. Sono state descritte anomalie cerebrali di gravità molto variabile (microcefalia, dilatazione degli spazi extra-assiali del liquido cerebrospinale, perdita neuronale diffusa e gliosi della corteccia/sostanza bianca."},"nl":{"name":"Letaal non-compactie van linkerventrikel - insulten - hypotonie - cataract - ontwikkelingsachterstand-syndroom","definition":"Letaal non-compactie van linkerventrikel - insulten - hypotonie - cataract - ontwikkelingsachterstand-syndroom is een zeldzame, genetische, neurometabole ziekte, gekarakteriseerd door algehele ontwikkelingsachterstand, ernstige hypotonie, insulten, cataracten, cardiomyopathie (waaronder linker of biventriculaire hypertrofie, gedilateerde cardiomyopathie) en non-compactie van linkerventrikel, en met doorgaans overlijden in de zuigelingentijd of vroege kindertijd tot gevolg. Patiënten vertonen meestal metabole lactaatacidose, groeiachterstand, 'head lag' (ontbreken van de hoofdbalans bij tractie aan de armen), ademhalingsproblemen en verminderde activiteit van complexen van de ademhalingsketen. Er werden zeer variabele cerebrale afwijkingen gerapporteerd, waaronder microcefalie, aanzienlijke extra-axiale ruimtes met cerebrospinaal vocht, diffuus neuronaal verlies en gliose van de cortex/witte stof."},"pt":{"name":"Síndrome letal de não compactação do ventrículo esquerdo-convulsões-hipotonia-catarata-perturbação do desenvolvimento"},"pl":{"name":"Śmiertelny zespół niescalenia mięśnia lewej komory, drgawek, hipotonii, zaćmy i opóźnienia w rozwoju"},"cs":{"name":"Syndrom letálních nekompaktních křečí levé komory, hypotonie, katarakty a opožděného vývoje"},"uk":{"name":"Летальний синдром лівошлуночкового неущільнення-судом-гіпотонії-катаракти-затримки розвитку","definition":"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis."},"zh":{"name":"致命性左心室肌致密化不全-肌张力低下-白内障-发育迟缓综合征","definition":"致死性左心室致密化不全-癫痫发作-肌张力低下-白内障-发育迟缓综合征是一种罕见的、遗传性、神经代谢性疾病，其特征是全面发育迟缓、严重肌张力低下、癫痫发作、白内障、心肌病（包括左心室或双心室肥大、扩张型心肌病）和左心室致密化不全，通常导致病人在婴儿期或幼儿期死亡。患者通常表现为代谢性乳酸中毒、发育停滞、头迟滞、呼吸困难和呼吸链复合体活性下降。有报道称，脑部异常变化很大，包括小脑萎缩、轴外脑脊液间隙显著增宽、弥漫性神经元丢失和皮质/白质胶质化。"},"tr":{"name":"Letal sol ventriküler non-kompaksiyon-nöbetler-hipotoni-katarakt-gelişme geriliği sendromu"}},"xrefs":[{"source":"OMIM","code":"617228","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014976","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567603","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":2443,"name":"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":98054,"name":"Rare genetic cardiac disease","classifications":[156]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":217678,"name":"Unclassified cardiomyopathy","classifications":[146]}],"children":[],"genes":[{"symbol":"MIPEP","name":"mitochondrial intermediate peptidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27799064[PMID]_25778941[PMID]","hgnc":"7104","ensembl":"ENSG00000027001","omim":"602241","loci":["13q12.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"27799064[PMID]_25778941[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27799064[PMID]_25778941[PMID]"}],"phenotypes":null}