{"orpha":1496,"name":"Corpus callosum agenesis-neuronopathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Andermann syndrome","Charlevoix disease"],"definition":"A rare neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1496/","orphanet_url":"https://www.orpha.net/en/disease/detail/1496","names":{"fr":{"name":"Syndrome d'agénesie du corps calleux-neuropathie","synonyms":["Maladie de Charlevoix","Syndrome d'Andermann"],"definition":"Maladie neurodégénérative rare caractérisée par une neuropathie sensorimotrice progressive sévère débutant dans la petite enfance et se traduisant par une hypotonie, une aréflexie, une amyotrophie et une dysgénésie du corps calleux de degré variable. Les autres caractéristiques sont une déficience intellectuelle et un retard de développement légers à sévères, et des maladies psychiatriques à type de délires paranoïaques, de dépression, d'hallucinations et de trouble du spectre de l'autisme. Généralement confinés au fauteuil roulant au cours de la deuxième décennie de vie, les patients décèdent au cours de la troisième décennie. La maladie se transmet sur le mode autosomique récessif."},"de":{"name":"Corpus callosum-Agenesie-Neuropathie-Syndrom","synonyms":["Andermann-Syndrom","Charlevoix-Krankheit"],"definition":"Das Corpus callosum-Agenesie-Neuropathie-Syndrom ist eine neurodegenerative Erkrankung, welche sich durch eine, in der frühen Kindheit beginnende und progressiv verlaufende, schwere sensomotorische Neuropathie auszeichnet, die zu Hypotonie, Areflexie, Amyothropie und unterschiedlich stark ausgeprägter Dysgenesie des Corpus callosum führt. Weitere Merkmale sind leicht bis schwergradige Intelligenzminderung und Entwicklungsverzögerung sowie psychiatrische Manifestationen, welche paranoide Wahnvorstellungen, Depressionen, Halluzinationen und 'Autismus-ähnliche'-Merkmale beinhalten. Betroffene sind für gewöhnlich ab der zweiten Lebensdekade auf einen Rollstuhl angewiesen und versterben in der dritten Lebensdekade. Die Erkrankung wird autosomal-rezessiv vererbt."},"es":{"name":"Síndrome de agenesia de cuerpo calloso-neuropatía","definition":"Es un trastorno neurodegenerativo caracterizado por una neuropatía sensitivo-motora grave y progresiva, que comienza en la lactancia con hipotonía, arreflexia, amiotrofia y diferentes grados de disgenesia del cuerpo calloso. Otras características adicionales incluyen retraso intelectual y del desarrollo psicomotor de leve a grave, y manifestaciones psiquiátricas que incluyen delirios paranoicos, depresión, alucinaciones y rasgos autistas. Los afectados suelen depender de una silla de ruedas en la segunda década de la vida y su esperanza de vida no sobrepasa la tercera década. La enfermedad se hereda según un patrón de herencia autosómico recesivo."},"it":{"name":"Agenesia del corpo calloso - neuropatia","synonyms":["Malattia di Charlevoix","Sindrome di Andermann"],"definition":"L'agenesia del corpo calloso-neuropatia è una malattia neurodegenerativa caratterizzata da neuropatia sensitivo-motoria grave e progressiva che esordisce durante l'infanzia con ipotonia, areflessia, amiotrofia e disgenesia del corpo calloso di gravità variabile. Altri segni clinici sono il ritardo lieve-moderato mentale e dello sviluppo e i sintomi psichiatrici, comprese le delusioni paranoiche, la depressione, le allucinazioni e i tratti simil-autistici. Di solito i pazienti sono costretti alla sedia a rotelle prima della seconda decade di vita; il decesso si verifica nella terza decade. La trasmissione è autosomica recessiva."},"nl":{"name":"Agenesie van corpus callosum - neuronopathie-syndroom","synonyms":["Syndroom van Andermann","Ziekte van Charlevoix"],"definition":"Een neurodegeneratieve aandoening, gekenmerkt door ernstige progressieve sensomotorische neuropathie die aanvangt in de zuigelingentijd en leidt tot hypotonie, areflexie, amyotrofie en variabele gradaties van dysgenesie van corpus callosum. Bijkomende kenmerken zijn milde tot ernstige intellectuele achterstand en ontwikkelingsachterstand, en psychiatrische symptomen waaronder paranoïde waanbeelden, depressie, hallucinaties, en autisme-achtige kenmerken. Getroffen individuen raken meestal aan een rolstoel gekluisterd tijdens hun tweede levensdecennium en sterven in hun derde. De ziekte wordt overgeërfd als een autosomaal recessief kenmerk."},"pt":{"name":"Síndrome de agenesia do corpo caloso-neuronopatia","synonyms":["Doença de Charlevoix","Síndrome Andermann"]},"pl":{"name":"Agnezja ciała modzelowatego - neuropatia","synonyms":["Choroba Charlevoix","Zespół Andermanna"]},"cs":{"name":"Ageneze corpus callosum s neuronopatií","synonyms":["Charlevoixská choroba","Andermannův syndrom"]},"uk":{"name":"Синдром агенезії-нейронопатії мозолистого тіла","synonyms":["Синдром Андермана","Хвороба Шарлевуа"],"definition":"A rare neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait."},"zh":{"name":"胼胝体发育不全-神经元病综合征","synonyms":["Charlevoix病"]},"tr":{"name":"Korpus kallozum agenezi-nöronopati sendromu","synonyms":["Andermann sendromu","Charlevoix hastalığı"]}},"xrefs":[{"source":"OMIM","code":"218000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1443432032"},{"source":"MONDO","code":"0000902","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536446","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795950","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1537","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":207031,"name":"OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":207012,"name":"Spinal muscular atrophy associated with central nervous system anomaly","classifications":[156,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"SLC12A6","name":"solute carrier family 12 member 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301546[PMID]","hgnc":"10914","ensembl":"ENSG00000140199","omim":"604878","loci":["15q14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"20301546[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":47.0,"area":"Specific population","status":"Validated","source":"20301546[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002410","label":"Aqueductal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Occasional (29-5%)","criteria":null}]}}