{"orpha":141,"name":"Canavan disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ACY2 deficiency","Aminoacylase 2 deficiency","Aspartoacylase deficiency","Spongy degeneration of the brain"],"definition":"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141/","orphanet_url":"https://www.orpha.net/en/disease/detail/141","names":{"fr":{"name":"Maladie de Canavan","synonyms":["Déficit en ACY2","Déficit en aminoacylase 2","Déficit en aspartoacylase","Dégénérescence spongieuse du cerveau"],"definition":"La maladie de Canavan (MC) est un trouble neurodégénératif. Son spectre varie entre des formes sévères avec une leucodystrophie, une macrocéphalie et un retard de développement sévère, et une forme modérée/juvénile très rare caractérisée par un retard de développement modéré."},"de":{"name":"Canavan-Krankheit","synonyms":["ACY2-Mangel","Aminoacylase 2-Mangel","Aspartoacylase-Mangel","Canavan-Syndrom","ZNS-Degeneration, spongiforme"],"definition":"Die Canavan-Krankheit (CD) ist eine neurodegenerative Störung. Ihr Spektrum reicht von schweren Formen mit Leukodystrophie, Makrozephalie und stark verzögerter Entwicklung bis zu einer sehr seltenen milden/juvenilen Form, die durch eine leicht verzögerte Entwicklung gekennzeichnet ist."},"es":{"name":"Enfermedad de Canavan","synonyms":["Deficiencia de ACY2","Deficiencia de aminoacilasa 2","Deficiencia de aspartoacilasa","Degeneración esponjosa del cerebro"],"definition":"La enfermedad de Canavan (EC) es un trastorno neurodegenerativo cuyo espectro varía entre formas graves con leucodistrofia, macrocefalia y retraso grave en el desarrollo, y una forma leve/juvenil muy infrecuente caracterizada por un retraso leve del desarrollo."},"it":{"name":"Malattia di Canavan","synonyms":["Deficit di ACY2","Deficit di aminoacilasi 2","Deficit di aspartoacilasi","Degenerazione spongiosa del cervello"],"definition":"La malattia di Canavan (CD) è una malattia neurodegenerativa, il cui quadro clinico varia dalle forme gravi con leucodistrofia, macrocefalia e grave ritardo dello sviluppo, alle forme lievi/giovanili, molto rare, caratterizzate da lieve ritardo dello sviluppo."},"nl":{"name":"Ziekte van Canavan","synonyms":["ACY2-deficiëntie","Aminoacylase 2-deficiëntie","Aspartoacylasedeficiëntie","Sponsachtige degeneratie van de hersenen"],"definition":"De ziekte van Canavan (CD) is een neurodegeneratieve aandoening. Het spectrum van de ziekte varieert van ernstige vormen met leukodystrofie, macrocefalie en ernstige ontwikkelingsachterstand tot een zeer zeldzame milde vorm die wordt gekarakteriseerd door een milde ontwikkelingsachterstand."},"pt":{"name":"Doença de Canavan","synonyms":["Deficiência de aspartoacilase","Degenerescência espongiforme do sistema nervoso central"],"definition":"A doença de Canavan (CD) é uma doença neurodegenerativa, o seu espectro varia entre formas graves com leucodistrofia, macrocefalia e atraso grave de desenvolvimento, e uma formaligeira/juvenil muito rara caracterizada por atraso ligeiro de desenvolvimento."},"pl":{"name":"Choroba Canavan","synonyms":["Niedobór ACY2","Niedobór aminoacylazy-2","Niedobór aspartoacylazy","Zwyrodnienie gąbczaste mózgu"],"definition":"Choroba Canavana jest chorobą neurodegeneracyjną; klinicznie obejmuje spektrum od postaci ciężkich z leukodystrofią, makrocefalią i poważnym opóźnieniem rozwoju do bardzo rzadkiej postaci łagodnej/młodzieńczej, która charakteryzuje się łagodnym opóźnieniem rozwoju."},"cs":{"name":"Nemoc Canavanové","synonyms":["Deficit ACY2","Deficit aminoacylázy 2","Deficit aspartoacylázy","Spongiformní leukodystrofie","Spongiozní degenerace mozku"]},"uk":{"name":"Хвороба Канавана","synonyms":["Дефіцит ACY2","Дефіцит аміноацилази 2","Дефіцит аспартатацилази","Губчаста дегенерація головного мозку"],"definition":"Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay."},"zh":{"name":"卡纳万病","synonyms":["脑海绵状变性"]},"tr":{"name":"Canavan hastalığı","synonyms":["ACY2 eksikliği","Aminoaçilaz 2 eksikliği","Aspartoaçilaz eksikliği","Beynin süngerimsi dejenerasyonu"]}},"xrefs":[{"source":"OMIM","code":"271900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"5C50.E1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1576870846"},{"source":"MONDO","code":"0010079","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017825","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206307","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5984","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067608","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","classifications":[156,181]},{"orpha":308448,"name":"Aminoacylase deficiency","classifications":[150,156]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[{"orpha":314918,"name":"Mild Canavan disease","type":"Clinical subtype"},{"orpha":314911,"name":"Severe Canavan disease","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":314911,"name":"Severe Canavan disease"}},{"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"],"via":{"orpha":314918,"name":"Mild Canavan disease"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"Specific population","status":"Validated","source":"20301412[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}