{"orpha":255229,"name":"Navajo neurohepatopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Navajo neuropathy"],"definition":"A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-255229/","orphanet_url":"https://www.orpha.net/en/disease/detail/255229","names":{"fr":{"name":"Neurohépatopathie type Navajo","synonyms":["Neuropathie type Navajo"],"definition":"Syndrome rare de déplétion de l'ADN mitochondrial, potentiellement létal, caractérisé par une neuropathie sensitivomotrice sévère et progressive associée à une ulcération, une cicatrice ou une anesthésie cornéenne, une mutilation acrale, un dérèglement métabolique et immunologique et une hépatopathie (qui peut se manifester par une insuffisance hépatique fulminante, un syndrome Reye-like ou une évolution indolente vers une cirrhose du foie, selon la forme clinique en cause). Ce syndrome est présent dans la population amérindienne Navajo. Le tableau clinique comprend un retard de croissance, une faiblesse des membres distaux avec diminution de la sensibilité, des contractures des membres avec perte fonctionnelle, une aréflexie, une acidose métabolique récurrente avec maladie intercurrente, des anomalies immunologiques se manifestant par des infections systémiques sévères et un infantilisme sexuel."},"de":{"name":"Navajo-Neurohepatopathie","synonyms":["Navajo-Neuropathie"],"definition":"Ein seltenes, lebensbedrohliches mitochondriales DNA-Depletionssyndrom, das in der indianischen Bevölkerung der Navajo auftritt. Es ist gekennzeichnet durch eine schwere fortschreitende sensorisch-motorische Neuropathie in Verbindung mit Hornhautgeschwüren oder -Narben, akraler Verstümmelung, metabolischer und immunologischer Dysregulation und Hepatopathie (die sich je nach der vorliegenden klinischen Form als fulminantes Leberversagen, Reye-like-Syndrom oder indolente Entwicklung zu einer Leberzirrhose äußern kann). Das klinische Bild umfasst Wachstumsverzögerung, Schwäche der distalen Gliedmaßen mit beeinträchtigter Sinneswahrnehmung, Gliedmaßenkontrakturen mit Funktionsverlust, Areflexie, rezidivierende metabolische Azidose mit Begleiterkrankungen, immunologische Anomalien, die sich in schweren systemischen Infektionen manifestieren, und sexuellen Infantilismus."},"es":{"name":"Neurohepatopatía tipo Navajo","synonyms":["Neuropatía tipo Navajo"],"definition":"Es una enfermedad poco frecuente y potencialmente mortal por síndrome de depleción del ADN mitocondrial presente en la población de nativos americanos navajos. Está caracterizada por grave neuropatía sensitivo-motora progresiva asociada a úlceras corneales, cicatrización o anestesia, mutilación acral, trastorno metabólico e inmunológico y hepatopatía (que puede manifestarse con insuficiencia hepática fulminante, síndrome similar a Reye o progresión lenta a cirrosis hepática, dependiendo de la forma clínica implicada). La presentación clínica incluye fallo de medro, debilidad distal de las extremidades acompañada de sensibilidad reducida, contracturas en las extremidades con pérdida de función, arreflexia, acidosis metabólica recurrente con enfermedad intercurrente, anomalías inmunológicas que se manifiestan con infecciones sistémicas graves e infantilismo sexual."},"it":{"name":"Neuroepatopatia tipo Navajo","synonyms":["Neuropatia, tipo Navajo"],"definition":"È una sindrome rara, potenzialmente letale, da deplezione del DNA mitocondriale, caratterizzata da neuropatia sensitivo-motoria grave e progressiva, associata ad ulcerazioni, cicatrici o anestesia della cornea, mutilazione acrale, squilibrio metabolico e immunologico ed epatopatia (che esordisce con insufficienza renale fulminante, sindrome Reye-simile o con progressione indolore verso la cirrosi epatica, a seconda della forma clinica). La malattia è presente nel popolo nativo americano dei Navajo. I segni clinici comprendono il ritardo della crescita, la debolezza della porzione distale degli arti con riduzione della sensibilità, le contratture degli arti con deficit funzionale, l'areflessia, l'acidosi metabolica ricorrente con le malattie intercorrenti, le anomalie immunologiche (che esordiscono con infezioni sistemiche gravi) e l'infantilismo sessuale."},"nl":{"name":"Navajo neurohepatopathie","synonyms":["Navajo neuropathie"],"definition":"Een zeldzaam, levensbedreigend, mitochondriaal DNA-depletiesyndroom dat gekarakteriseerd wordt door ernstige, progressieve sensomotorische neuropathie geassocieerd met verzwering, littekenvorming of anesthesie van het hoornvlies, acrale mutilatie, metabole en immunologische stoornissen, en hepatopathie (die zich kan manifesteren met fulminant leverfalen, a Reye-achtig syndroom of indolente progressie tot levercirrose, afhankelijk van de klinisch vorm die betrokken is), en dat aanwezig is in de inheems Amerikaanse Navajo-populatie. Het klinisch beeld omvat groeiachterstand, zwakte van distale ledematen met verminderde zintuiglijke gewaarwording, contracturen van de ledematen met functieverlies, areflexie, recurrente metabole acidose met bijkomende ziekte, immunologische anomalieën die zich manifesteren met ernstige systemische infecties, en seksueel infantilisme."},"pt":{"name":"Neuro-hepatopatia de Navajo","synonyms":["Neuropatia de Navajo"]},"pl":{"name":"Neurohepatopatia Navajo","synonyms":["Neuropatia Navajo"]},"cs":{"name":"Navažská neurohepatopatie","synonyms":["Navažská neuropatie"]},"uk":{"name":"Нейрогепатопатія Навахо","synonyms":["Невропатія Навахо"],"definition":"A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism."},"zh":{"name":"纳瓦霍神经性肝病","synonyms":["纳瓦霍神经性肝病"],"definition":"一种罕见的危及生命的线粒体DNA耗竭综合症疾病，其特征是严重的进行性感觉运动神经病，与角膜溃疡、疤痕或麻醉、肢解、代谢和免疫紊乱以及肝病(可表现为暴发性肝功能衰竭、类雷氏综合征或缓慢进展为肝硬化，取决于所涉及的临床形式)有关，存在于纳瓦霍土著美洲人中，临床表现包括生长迟滞、四肢远端无力伴感觉减退、肢体挛缩伴功能丧失、反射障碍、反复代谢性酸中毒伴发疾病、以严重系统性感染为表现的免疫异常，以及性幼稚。"},"tr":{"name":"Navajo nörohepatopati","synonyms":["Navajo nöropati"]}},"xrefs":[{"source":"OMIM","code":"256810","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1903524982"},{"source":"MONDO","code":"0009747","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538344","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850406","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3972","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254871,"name":"Mitochondrial DNA depletion syndrome, hepatocerebral form","classifications":[150,156,183]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MPV17","name":"mitochondrial inner membrane protein MPV17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22593919[PMID]","hgnc":"7224","ensembl":"ENSG00000115204","omim":"137960","loci":["2p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":49.0,"area":"Worldwide","status":"Validated","source":"23714749[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"23714749[PMID]"}],"phenotypes":null}