{"orpha":98934,"name":"Huntington disease-like 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HDL2"],"definition":"A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98934/","orphanet_url":"https://www.orpha.net/en/disease/detail/98934","names":{"fr":{"name":"Maladie de Huntington-like 2","synonyms":["HDL2"],"definition":"Maladie neurodégénérative sévère rare, considérée comme l'une des phénocopies de la maladie de Huntington (MH), touchant des personnes d'origine africaine et caractérisée par la triade anomalies du mouvement (chorée, mouvements oculomoteurs, parkinsonisme), troubles psychiatriques (principalement tristesse, irritabilité et anxiété) et troubles cognitifs (déclin cognitif précoce et démence sous-corticale)."},"de":{"name":"Chorea Huntington-ähnliche Krankheit 2","synonyms":["HDL2"],"definition":"Eine schwere neurodegenerative Erkrankung, die als eine der Erscheinungsformen der Huntington-Krankheit (HD) gilt. Sie ist durch eine Trias aus Bewegungsstörungen (Chorea, Okulomotorik, Parkinsonismus), psychiatrischen Störungen (vor allem Traurigkeit, Reizbarkeit und Angstzustände) und kognitiven Anomalien (früher kognitiver Rückgang und subkortikale Demenz) gekennzeichnet."},"es":{"name":"Enfermedad similar a Huntington, tipo 2","synonyms":["Enfermedad de Huntington-like, tipo 2","HDL2"],"definition":"Es un trastorno neurodegenerativo grave poco frecuente considerado una de las fenocopias de la enfermedad de Huntington (EH) que afecta a pacientes afrodescendientes y que se caracteriza por una tríada de anomalías del movimiento (corea, oculomotora, parkinsonismo), psiquiátricas (principalmente tristeza, irritabilidad y ansiedad) y cognitivas (deterioro cognitivo temprano y demencia de tipo subcortical)."},"it":{"name":"Malattia Huntington-simile 2","synonyms":["HDL2"],"definition":"La malattia Huntington-simile 2 (HDL2) è una grave malattia neurogenerativa, considerata parte delle sindromi da neuroacantocitosi (si vedano questi termini), caratterizzata dalla triade che comprende anomalie motorie, psichiatriche e cognitive."},"nl":{"name":"Ziekte van Huntington-achtig 2","synonyms":["HDL2"],"definition":"Een zeldzame ernstige neurodegeneratieve aandoening die beschouwd wordt als één van de fenokopieën van ziekte van Huntington (HD) en patiënten van Afrikaanse afkomst treft, gekenmerkt door een triade van bewegingsstoornissen (chorea, oculomotorische afwijking, parkinsonisme), psychiatrische afwijkingen (vooral droefheid, prikkelbaarheid en angst), en cognitieve functiestoornissen (vroege cognitieve achteruitgang en subcorticaal-achtige dementie)."},"pt":{"name":"Doença Huntington-like 2","definition":"Doença neurodegenerativa grave rara que é considerada uma das fenocópias da doença Huntington (DH) que afecta doentes de ascendência africana e caracterizada por uma tríade de movimento (coreia, oculomotor, parkinsonismo), psiquiátrico (proeminentemente tristeza, irritabilidade e ansiedade) e anomalias cognitivas (declínio cognitivo precoce e demência subcortical)."},"pl":{"name":"Choroba podobna do choroby Huntingtona 2","synonyms":["HDL2"]},"cs":{"name":"Huntingtonská fenokopie 2","synonyms":["HDL2"]},"uk":{"name":"Хвороба Гантінгтон-подібна 2","synonyms":["HDL2"],"definition":"A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia)."},"zh":{"name":"类亨廷顿病2","synonyms":["HDL2"],"definition":"亨廷顿疾病样2型(HDL2)是一种严重的神经退行性疾病，被认为是神经棘细胞增多症综合征(见此该词条)的一部分，其特征是运动、精神和认知异常三联征。"},"tr":{"name":"Huntington hastalığı benzeri 2","synonyms":["HDL2"]}},"xrefs":[{"source":"OMIM","code":"606438","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G10","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A01.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"187493961"},{"source":"MONDO","code":"0011671","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564708","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847987","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]}],"children":[],"genes":[{"symbol":"JPH3","name":"junctophilin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"14203","ensembl":"ENSG00000154118","omim":"605268","loci":["16q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"20301701[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-30","source":"14557581[PMID]","terms":[{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000751","label":"Personality changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002060","label":"Abnormal cerebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010994","label":"Abnormal corpus striatum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002340","label":"Caudate atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002476","label":"Primitive reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}