{"orpha":457375,"name":"ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Martsolf-like syndrome"],"definition":"A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457375/","orphanet_url":"https://www.orpha.net/en/disease/detail/457375","names":{"fr":{"name":"Trouble neurologique létal infantile avec cataracte et atteinte cardiaque associé à ITPA","synonyms":["Syndrome de Martsolf-like"],"definition":"Maladie neurométabolique rare d'origine génétique caractérisée par une encéphalopathie d'apparition précoce avec une microcéphalie progressive, un retard sévère de développement global, des convulsions, une hypotonie, des difficultés à s'alimenter, des anomalies cardiaques variables et une cataracte. L'IRM cérébrale met en évidence un profil distinct, hyperintense en T2, et une diffusion restreinte dans le bras postérieur de la capsule interne, associée à un retard de myélinisation et une atrophie cérébrale progressive. La maladie est généralement létale."},"de":{"name":"ITPA-assoziierte letale infantile neurologische Störung mit Katarakt und kardialer Beteiligung","synonyms":["Martsolf-ähnliches-Syndrom"],"definition":"Eine seltene, genetisch bedingte, neurometabolische Krankheit, die durch eine früh einsetzende Enzephalopathie mit fortschreitender Mikrozephalie, schwerer globaler Entwicklungsverzögerung, Krampfanfällen, Hypotonie, Fütterungsschwierigkeiten, variablen kardialen Anomalien und Katarakten gekennzeichnet ist. Im zerebralen MRI sind charakteristische Muster mit hohem T2-Signal und eingeschränkter Diffusion im hinteren Teil der inneren Hirnkapsel in Kombination mit verzögerter Myelinisierung und fortschreitender zerebraler Atrophie nachweisbar. Die Krankheit verläuft in der Regel tödlich."},"es":{"name":"Trastorno neurológico con cataratas y afectación cardíaca letal infantil asociado al gen ITPA","synonyms":["Síndrome similar a Martsolf"],"definition":"Es una enfermedad neurometabólica genética y poco frecuente caracterizada por encefalopatía de inicio temprano con microcefalia progresiva, grave retraso del desarrollo global, crisis epilépticas, hipotonía, dificultades en la alimentación, anomalías cardíacas variables y cataratas. La RM cerebral muestra un patrón característico con señal T2 alta y difusión restringida en la extremidad posterior de la cápsula interna en combinación con un retraso de la mielinización y atrofia cerebral progresiva. Por lo general, esta enfermedad es mortal."},"it":{"name":"Encefalopatia correlata a ITPA","definition":"È una malattia neurometabolica genetica rara, caratterizzata da encefalopatia ad esordio precoce associata a microcefalia progressiva, grave ritardo dello sviluppo globale, crisi epilettiche, ipotonia, difficoltà di alimentazione, cardiopatie di gravità variabile e cataratta. La RMN cerebrale evidenzia un caratteristico aumento di segnale in T2 e la diffusione limitata nella parte posteriore del limbo della capsula interna, associata a ritardo della mielinizzazione ed atrofia cerebrale progressiva. Di solito la malattia è letale."},"nl":{"name":"ITPA-gerelateerde letale infantiele neurologische stoornis met cataract en cardiale betrokkenheid","synonyms":["Martsolf-achtig syndroom"],"definition":"Een zeldzame, genetische, neurometabole ziekte, gekarakteriseerd door vroeg aanvangende encefalopathie met progressieve microcefalie, ernstige algehele ontwikkelingsachterstand, insulten, hypotonie, voedingsproblemen, variabele hartafwijkingen, en cataracten. Beeldvorming van de hersenen met MRI toont een typisch patroon met hoog T2-signaal en beperkte diffusie in het achterste deel van de capsula interna, in combinatie met vertraagde myelinisatie en progressieve cerebrale atrofie. De ziekte is doorgaans fataal."},"pt":{"name":"Doença neurológica com catarata e envolvimento cardíaco letal da infância ITPA-relacionada","synonyms":["Síndrome Martsolf-like"]},"pl":{"name":"Encefalopatia związana z ITPA","synonyms":["Martsolf-like syndrome"]},"cs":{"name":"ITPA-vázaná encefalopatie","synonyms":["Martsolf-like syndrome"]},"uk":{"name":"Летальний інфантильний неврологічний розлад, повязаний з ITPA, з катарактою та ураженням серця","synonyms":["Синдром Марцольфа"],"definition":"A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal."},"zh":{"name":"ITPA相关的致命性婴儿期神经系统疾病伴白内障和心脏疾病","synonyms":["马尔索夫样综合征"],"definition":"是一种罕见的、遗传性、神经代谢性疾病，其特点是早发脑病，伴有进行性小脑萎缩、严重的全面发育迟缓、癫痫发作、肌张力低下、进食困难、多种心脏异常和白内障。脑MRI显示明显的T2高信号，内囊后肢弥散受限模式，同时伴有髓鞘形成迟缓和进行性大脑萎缩。本病一般为致命性疾病。"},"tr":{"name":"Katarakt ve kalp tutulumu ile seyreden ITPA-ilişkili letal infantil nörolojik bozukluk","synonyms":["Martsolf-ilişkili sendrom"]}},"xrefs":[{"source":"OMIM","code":"616647","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KB0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014719","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225256","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":225713,"name":"Other metabolic disease with epilepsy","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"ITPA","name":"inosine triphosphatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26224535[PMID]","hgnc":"6176","ensembl":"ENSG00000125877","omim":"147520","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"26224535[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26224535[PMID]"}],"phenotypes":null}