{"orpha":248111,"name":"Juvenile Huntington disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["JHD","Juvenile Huntington chorea"],"definition":"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-248111/","orphanet_url":"https://www.orpha.net/en/disease/detail/248111","names":{"fr":{"name":"Maladie de Huntington juvénile","synonyms":["Chorée de Huntington juvénile","JHD"],"definition":"La maladie de Huntington juvénile (MHJ) est une forme de maladie de Huntington (MH) caractérisée par le début précoce avant l'âge de 20 ans des manifestations."},"de":{"name":"Juvenile Huntington-Krankheit","synonyms":["JHD"],"definition":"Die Juvenile Huntington-Krankheit (JHD) ist eine Form der Huntington-Krankheit (HD; s. dort), die vor dem 20. Lebensjahr beginnt."},"es":{"name":"Enfermedad de Huntington juvenil","synonyms":["JHD","Corea de Huntington juvenil"],"definition":"La enfermedad de Huntington juvenil (EHJ) es una forma de la enfermedad de Huntington (EH), caracterizada por la aparición de signos y síntomas antes de los 20 años de edad."},"it":{"name":"Malattia di Huntington giovanile","synonyms":["Corea di Huntington giovanile","JHD"],"definition":"La malattia di Huntington giovanile (JHD) è una forma della malattia di Huntington (MH; si veda questo termine), caratterizzata dall'esordio dei segni e dei sintomi prima dei 20 anni."},"nl":{"name":"Juveniele ziekte van Huntington","synonyms":["JHD","Juveniele chorea van Huntington"],"definition":"Juveniele ziekte van Huntington (JHD) is een vorm van ziekte van Huntington (HD; zie deze term), gekenmerkt door het begin van de symptomen en tekenen voor 20-jarige leeftijd."},"pt":{"name":"Doença de Huntington juvenil","definition":"A doença de Huntington juvenil (JHD) é uma forma de doença de Huntington (HD, ver este termo), caracterizada pelo aparecimento de sinais e sintomas antes dos 20 anos de idade."},"pl":{"name":"Młodzieńcza choroba Huntingtona","synonyms":["JHD","Młodzieńcza pląsawica Huntingtona"]},"cs":{"name":"Juvenilní Huntingtonova choroba","synonyms":["JHD","Juvenilní Huntingtonova chorea"]},"uk":{"name":"Ювенільна хвороба Гантінгтона","synonyms":["JHD","Ювенільна хорея Гентингтона"],"definition":"Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age."},"zh":{"name":"青少年亨廷顿舞蹈病","synonyms":["青少年亨廷顿舞蹈症"],"definition":"青少年亨廷顿病（JHD）是亨廷顿病（HD；见该词条）的一种形式，在20岁之前出现疾病症状和体征。"},"tr":{"name":"Jüvenil Huntington hastalığı","synonyms":["JHD","jüvenil Huntington kore"]}},"xrefs":[{"source":"OMIM","code":"143100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G10","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016621","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751208","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10510","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":276058,"name":"Genetic neurodegenerative disease with dementia","classifications":[156]},{"orpha":306719,"name":"Neurodegenerative disease with chorea","classifications":[156,181]},{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]},{"orpha":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","classifications":[156]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]}],"children":[],"genes":[{"symbol":"HTT","name":"huntingtin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17181545[PMID]","hgnc":"4851","ensembl":"ENSG00000197386","omim":"613004","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-12","source":"17562929[PMID]_11553930[PMID]_12791042[PMID]","terms":[{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012547","label":"Abnormal involuntary eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","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:0200147","label":"Neuronal loss in basal ganglia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030190","label":"Oral motor hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}