{"orpha":314911,"name":"Severe Canavan disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Infantile Canavan disease","Neonatal Canavan disease"],"definition":"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314911/","orphanet_url":"https://www.orpha.net/en/disease/detail/314911","names":{"fr":{"name":"Maladie de Canavan sévère","synonyms":["Maladie de Canavan infantile","Maladie de Canavan néonatale"],"definition":"La maladie de Canavan (MC) sévère est un trouble neurodégénératif de progression rapide, caractérisé par une leucodystrophie, une macrocéphalie, un retard de développement sévère et une hypotonie."},"de":{"name":"Canavan-Krankheit, schwere","synonyms":["Canavan-Krankheit, infantile","Canavan-Krankheit, neonatale"],"definition":"Die schwere Canavan-Krankheit (CD) ist eine rasch fortschreitende neurodegenerative Störung mit Leukodystrophie, Makrozephalie, schwerer Entwicklungsverzögerung und Muskelhypotonie."},"es":{"name":"Enfermedad de Canavan grave","synonyms":["Enfermedad de Canavan infantil","Enfermedad de Canavan neonatal"],"definition":"La enfermedad de Canavan grave (EC) es un trastorno neurodegenerativo de progreso rápido que se caracteriza por leucodistrofia con macrocefalia, retraso grave del desarrollo e hipotonía."},"it":{"name":"Malattia di Canavan grave","synonyms":["Malattia di Canavan infantile","Malattia di Canavan neonatale"],"definition":"La malattia di Canavan (CD) grave è una malattia neurodegenerativa a progressione rapida, caratterizzata da leucodistrofia con macrocefalia, grave ritardo dello sviluppo e ipotonia."},"nl":{"name":"Ernstige Canavan-ziekte","synonyms":["Infantiele Canavan-ziekte","Infantiele ziekte van Canavan","Neonatale Canavan-ziekte","Neonatale ziekte van Canavan"],"definition":"Ernstige Canavan-ziekte (CD) is een snel evoluerende neurodegeneratieve aandoening die wordt gekarakteriseerd door leukodystrofie met macrocefalie, ernstige ontwikkelingsachterstand en hypotonie."},"pt":{"name":"Doença de Canavan grave","synonyms":["Doença de Canavan infantil","Doença de Canavan neonatal"],"definition":"A doença de Canavan (CD) grave é uma doença neurodegenerativa de rápida progressão caracterizada por leucodistrofia com macrocefalia, atraso grave no desenvolvimento e hipotonia."},"pl":{"name":"Ciężka choroba Canavana","synonyms":["Choroba Canavana noworodków","Dziecięca choroba Canavana"]},"cs":{"name":"Canavanové syndrom, těžká forma","synonyms":["Canavanové syndrom, infantilní","Canavanové syndrom, novorozenecký"]},"uk":{"name":"Важка форма хвороби Канавана","synonyms":["Інфантильна хвороба Канавана","Неонатальна хвороба Канавана"],"definition":"Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia."},"zh":{"name":"重型 Canavan病","synonyms":["婴儿 Canavan病"],"definition":"重度Canavan病（CD）是一种进展迅速的神经退行性疾病，以脑白质营养不良伴巨颅畸形、严重发育迟缓和肌张力减退为特征。"},"tr":{"name":"Ağır Canavan hastalığı","synonyms":["Yenidoğan Canavan hastalığı","İnfantil Canavan hastalığı"]}},"xrefs":[{"source":"OMIM","code":"271900","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017830","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5575558","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":141,"name":"Canavan disease","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"ASPA","name":"aspartoacylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301412[PMID]_21625469[PMID]","hgnc":"756","ensembl":"ENSG00000108381","omim":"608034","loci":["17p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-03","source":"28613566[PMID]_20301412[PMID]_28101991[PMID]","terms":[{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034649","label":"Anti-thyroid-stimulating hormone receptor antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025053","label":"Elevated brain N-acetyl aspartate level by MRS","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025405","label":"Visual fixation instability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001355","label":"Megalencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025013","label":"Decerebrate rigidity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002200","label":"Pseudobulbar signs","frequency":"Very rare (<4-1%)","criteria":null}]}}