{"orpha":643,"name":"Giant axonal neuropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GAN"],"definition":"Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-643/","orphanet_url":"https://www.orpha.net/en/disease/detail/643","names":{"fr":{"name":"Neuropathie à axones géants","definition":"La neuropathie à axones géants (NAG) est une maladie neurodégénérative sévère, lentement progressive. Dans la plupart des cas, elle se caractérise par une neuropathie périphérique sensorielle et motrice progressive, une atteinte du système nerveux central (incluant des signes pyramidaux et cérébelleux), et des cheveux crépus caractéristiques."},"de":{"name":"Riesenaxon-Neuropathie","definition":"Die Neuropathie mit Riesenaxonen (GAN) ist eine schwere, langsam fortschreitende neurodegenerative Erkrankung, die durch eine fortschreitende motorische und sensorische periphere Neuropathie, eine Beteiligung des zentralen Nervensystems (einschließlich pyramidaler und zerebellärer Anzeichen) und in den meisten Fällen durch charakteristische krause Haare gekennzeichnet ist."},"es":{"name":"Neuropatía axonal gigante","definition":"La neuropatía axonal gigante (GAN, siglas en inglés) es un trastorno neurodegenerativo grave, lentamente progresivo, caracterizado por neuropatía periférica sensoriomotora progresiva, afectación del sistema nervioso central (incluyendo signos piramidales y cerebelosos) y cabello rizado característico, en la mayoría de los casos."},"it":{"name":"Neuropatia con assoni giganti","definition":"La neuropatia con assoni giganti (GAN) è una malattia neurodegenerativa grave a progressione lenta, caratterizzata da neuropatia motoria e sensoriale periferica progressiva con interessamento del sistema nervoso centrale (segni piramidali e cerebellari) e, nella maggior parte dei casi, capelli crespi."},"nl":{"name":"Reuzenaxonale neuropathie","definition":"Reuzenaxonale neuropathie (GAN) is een ernstige, traag progressieve neurodegeneratieve stoornis die gekarakteriseerd wordt door progressieve motorische en sensorische perifere neuropathie, betrokkenheid van het centrale zenuwstelsel (inclusief piramidale en cerebellaire tekenen), en in de meeste gevallen typisch kroeshaar."},"pt":{"name":"Neuropatia axonal gigante"},"pl":{"name":"Neuropatia z olbrzymimi aksonami","synonyms":["GAN"]},"cs":{"name":"Axonální neuropatie s obrovskými axony","synonyms":["GAN"]},"uk":{"name":"Гігантська аксональна нейропатія","synonyms":["GAN"],"definition":"Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases."},"zh":{"name":"巨轴索神经病","synonyms":["GAN"]},"tr":{"name":"Dev aksonal nöropati","synonyms":["GAN"]}},"xrefs":[{"source":"OMIM","code":"256850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1848636316"},{"source":"MONDO","code":"0009749","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056768","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5200933","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6500","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98497,"name":"Genetic peripheral neuropathy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GAN","name":"gigaxonin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301315[PMID]","hgnc":"4137","ensembl":"ENSG00000261609","omim":"605379","loci":["16q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"20301315[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301315[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-21","source":"28300918[PMID]_19231187[PMID]","terms":[{"hpo":"HP:0005109","label":"Abnormality of the Achilles tendon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003405","label":"Diffuse axonal swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002235","label":"Pili canaliculi","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005922","label":"Abnormal hand morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002224","label":"Woolly hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012503","label":"Abnormality of the pituitary gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null}]}}