{"orpha":314918,"name":"Mild Canavan disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Juvenile Canavan disease"],"definition":"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314918/","orphanet_url":"https://www.orpha.net/en/disease/detail/314918","names":{"fr":{"name":"Maladie de Canavan modérée","synonyms":["Maladie de Canavan juvénile"],"definition":"La maladie de Canavan (MC) modérée est un trouble neurodégénératif caractérisé par un retard modéré de langage ou du développement moteur."},"de":{"name":"Canavan-Krankheit, milde","synonyms":["Canavan-Krankheit, juvenile"],"definition":"Die milde Canavan-Krankheit (CD) ist eine neurodegenerative Störung und durch leicht verzögerte Entwicklung der Sprache oder der Motorik gekennzeichnet."},"es":{"name":"Enfermedad de Canavan leve","synonyms":["Enfermedad de Canavan juvenil"],"definition":"La enfermedad de Canavan (EC) leve es un trastorno neurodegenerativo que se caracteriza por un retraso leve en el habla o en el desarrollo motor."},"it":{"name":"Malattia di Canavan lieve","synonyms":["Malattia di Canavan giovanile"],"definition":"La malattia di Canavan (CD) lieve è una malattia neurodegenerativa caratterizzata da lieve ritardo del linguaggio o dello sviluppo motorio."},"nl":{"name":"Milde Canavan-Ziekte","synonyms":["Juveniele Canavanziekte","Juveniele ziekte van Canavan"],"definition":"Milde Canavan-Ziekte (CD) is een neurodegeneratieve aandoening die wordt gekarakteriseerd door een milde ontwikkelingsachterstand van de spraak of de motoriek."},"pt":{"name":"Doença de Canavan ligeira","synonyms":["Doença de Canavan juvenil"],"definition":"A doença de Canavan ligeira (CD) é uma doença neurodegenerativa caracterizada por um atraso ligeiro de linguagem ou do desenvolvimento motor."},"pl":{"name":"Łagodna choroba Canavana","synonyms":["Młodzieńcza choroba Canavana"]},"cs":{"name":"Canavanové syndrom, mírná forma","synonyms":["Canavanové syndrom, juvenilní"]},"uk":{"name":"Легка форма хвороби Канавана","synonyms":["Ювенільна хвороба Канавана"],"definition":"Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development."},"zh":{"name":"轻型 Canavan病","synonyms":["青少年 Canavan病"],"definition":"轻度Canavan病（CD）是一种神经退行性疾病，其特征是轻微的语言或运动发育迟缓。"},"tr":{"name":"Hafif Canavan hastalığı","synonyms":["Jüvenil 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":"0017831","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751667","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":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-03","source":"20301412[PMID]_28101991[PMID]_16437572[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040196","label":"Mild microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Occasional (29-5%)","criteria":null}]}}