{"orpha":2388,"name":"Choreoacanthocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ChAc","Chorea-acanthocytosis","Levine-Critchley syndrome"],"definition":"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2388/","orphanet_url":"https://www.orpha.net/en/disease/detail/2388","names":{"fr":{"name":"Chorée-acanthocytose","synonyms":["ChAc","Syndrome de Levine-Critchley"],"definition":"Forme de neuroacanthocytose se caractérisant sur le plan clinique par un phénotype similaire à celui de la maladie de Huntington, et des symptômes neurologiques progressifs tels que des troubles moteurs, des troubles psychiatriques et des troubles cognitifs."},"de":{"name":"Choreoakanthozytose","synonyms":["ChAc","Chorea-Akanthozytose","Levine-Critchley-Syndrom"],"definition":"Die Chorea-Akanthozytose (ChAc) ist eine Form der Neuroakanthozytose (siehe diesen Begriff) und ist klinisch gekennzeichnet durch einen Huntington-ähnlichen Phänotyp mit progredienten neurologischen Symptomen, zu denen Bewegungsstörungen, psychiatrische Symptome und kognitive Störungen gehören."},"es":{"name":"Coreoacantocitosis","synonyms":["ChAc","Corea-acantocitosis","Síndrome de Levine-Critchley"],"definition":"La coreoacantocitosis (ChAc) es una forma de neuroacantocitosis caracterizada clínicamente por un fenotipo similar al de la enfermedad de Huntington (HD) con síntomas neurológicos progresivos, incluyendo trastornos de movimiento, manifestaciones psiquiátricas y trastornos cognitivos."},"it":{"name":"Coreoacantocitosi","synonyms":["Corea-acantocitosi","Sindrome di Levine-Critchley","ChAc"],"definition":"La corea-acantocitosi (ChAc) è una forma di neuroacantocitosi caratterizzata, clinicamente, da un fenotipo Huntington-simile con sintomi neurologici progressivi (disturbi motori, cognitivi e sintomi psichiatrici)."},"nl":{"name":"Choreoacanthocytose","synonyms":["ChAc","Chorea-acanthocytose","Syndroom van Levine-Critchley"],"definition":"Choreoacanthocytose (ChAc) is een vorm van neuroacanthocytose (zie deze term) en wordt klinisch gekenmerkt door een Huntington-achtig fenotype met progressieve neurologische symptomen waaronder bewegingsstoornissen, psychiatrische verschijnselen en cognitieve stoornissen."},"pt":{"name":"Coreoacantocitose","synonyms":["ChAc","Coreo-acantocitose","Síndrome Levine-Critchley"]},"pl":{"name":"Choreoakantocytoza","synonyms":["ChAc","pląsawica-akantocytoza","Zespół Levine'a i Critchley'a"]},"cs":{"name":"Choreoakantocytóza","synonyms":["ChA","Chorea a akantocytóza","Levineův-Critchleyův syndrom","Levine-Critchleyův syndrom"]},"uk":{"name":"Хореоакантоцитоз","synonyms":["ChAc","Хорея-акантоцитоз","Синдром Левіна-Крітчлі"],"definition":"Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances."},"zh":{"name":"舞蹈样运动棘红细胞症","synonyms":["Levine-Critchley 综合征"]},"tr":{"name":"Koreakantositoz","synonyms":["ChAc","Kore-akantositoz","Levine-Critchley sendromu"]}},"xrefs":[{"source":"OMIM","code":"200150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"278069977"},{"source":"MONDO","code":"0008695","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848062","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3956","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081505","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":263440,"name":"Neuroacanthocytosis","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]},{"orpha":225713,"name":"Other metabolic disease with epilepsy","classifications":[156,181]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"VPS13A","name":"vacuolar protein sorting 13 homolog A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301561[PMID]","hgnc":"1908","ensembl":"ENSG00000197969","omim":"605978","loci":["9q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"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":"2020-05-29","source":"29253590[PMID]_20301561[PMID]","terms":[{"hpo":"HP:0002072","label":"Chorea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030272","label":"Abnormal erythrocyte enzyme activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001927","label":"Acanthocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002340","label":"Caudate atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007078","label":"Decreased amplitude of sensory action potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012049","label":"Laryngeal dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002451","label":"Limb dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100034","label":"Motor 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morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031982","label":"Abnormal putamen morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031843","label":"Bradyphrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003763","label":"Bruxism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003380","label":"Decreased number of peripheral myelinated nerve fibers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008110","label":"Equinovarus deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006913","label":"Frontal cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012167","label":"Hair-pulling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002599","label":"Head titubation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012168","label":"Head-banging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025517","label":"Hypoplastic hippocampus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031008","label":"Lingual dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031908","label":"Micrographia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012048","label":"Oromandibular dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011999","label":"Paranoia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009049","label":"Peroneal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008767","label":"Self-mutilation of tongue and lips due to involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025479","label":"Self-neglect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000514","label":"Slow saccadic eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012697","label":"Small basal ganglia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030220","label":"Socially inappropriate behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012479","label":"Temporomandibular joint crepitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025331","label":"Upgaze palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031964","label":"Elevated circulating alanine aminotransferase concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031956","label":"Elevated circulating aspartate aminotransferase concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012675","label":"Iron accumulation in brain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very rare (<4-1%)","criteria":null}]}}