{"orpha":275864,"name":"Behavioral variant of frontotemporal dementia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["bv-FTD"],"definition":"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-275864/","orphanet_url":"https://www.orpha.net/en/disease/detail/275864","names":{"fr":{"name":"Démence fronto-temporale, variante comportementale","synonyms":["vt-DFT"],"definition":"La démence fronto-temporale, variante comportementale (vt-DFT) est une forme de démence fronto-temporale (DFT), caractérisée par l'altération progressive du comportement et un déclin dans la fonction exécutive, avec une atrophie prédominante du lobe frontal."},"de":{"name":"Verhaltensvariante der frontotemporalen Demenz","synonyms":["bv-FTD"]},"es":{"name":"Variante conductual de la demencia frontotemporal","definition":"Es una forma de demencia frontotemporal (DFT) caracterizada por un deterioro conductual progresivo y una disminución de la función ejecutiva con predominio de atrofia del lóbulo frontal."},"it":{"name":"Variante comportamentale della demenza frontotemporale","synonyms":["bv-FTD"]},"nl":{"name":"Gedragsvariant van frontotemporale dementie","synonyms":["bv-FTD"],"definition":"'Gedragsvariant van frontotemporale dementie (bv-FTD) is een vorm van frontotemporale dementie (FTD; zie deze term) die wordt gekarakteriseerd door progressieve gedragsstoornissen en aftakeling van de executieve functies met atrofie van voornamelijk de frontale hersenkwabben.'"},"pt":{"name":"Variante comportamental da demência frontotemporal","synonyms":["bv-FTD"]},"pl":{"name":"Wariant behawioralny otępienia czołowo-skroniowego","synonyms":["bv-FTD"]},"cs":{"name":"Behaviorální varianta frontotemporální demence","synonyms":["bv-FTD"]},"uk":{"name":"Поведінковий варіант лобно-скроневої деменції","synonyms":["bv-FTD"],"definition":"Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy."},"zh":{"name":"行为异常型额颞叶痴呆","synonyms":["bv-FTD"],"definition":"行为变异型额颞叶痴呆(BV-FTD)是额颞叶痴呆(FTD)的一种，以进行性行为损害和执行功能下降为特征，以额叶萎缩为主。"},"tr":{"name":"Frontotemporal demansın davranışsal varyantı","synonyms":["bv-FTD"]}},"xrefs":[{"source":"OMIM","code":"172700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600274","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600795","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616437","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619132","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"6D83","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1119344369"},{"source":"MONDO","code":"0017160","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4011788","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7392","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":282,"name":"Frontotemporal dementia","classifications":[156,181]},{"orpha":306708,"name":"Frontotemporal neurodegeneration with movement disorder","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PSEN1","name":"presenilin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11094121[PMID]","hgnc":"9508","ensembl":"ENSG00000080815","omim":"104311","loci":["14q24.2"]},{"symbol":"SQSTM1","name":"sequestosome 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24042580[PMID]","hgnc":"11280","ensembl":"ENSG00000161011","omim":"601530","loci":["5q35.3"]},{"symbol":"C9ORF72","name":"C9orf72-SMCR8 complex subunit","gene_type":"gene with protein product","association":"Major susceptibility factor 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in","status":"Assessed","source":"23597030[PMID]","hgnc":"6893","ensembl":"ENSG00000186868","omim":"157140","loci":["17q21.31"]},{"symbol":"TMEM106B","name":"transmembrane protein 106B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"27543298[PMID]_21614538[PMID]","hgnc":"22407","ensembl":"ENSG00000106460","omim":"613413","loci":["7p21.3"]},{"symbol":"TREM2","name":"triggering receptor expressed on myeloid cells 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24139279[PMID]_25042114[PMID]","hgnc":"17761","ensembl":"ENSG00000095970","omim":"605086","loci":["6p21.1"]},{"symbol":"VCP","name":"valosin containing protein","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"23597030[PMID]","hgnc":"12666","ensembl":"ENSG00000165280","omim":"601023","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Netherlands","status":"Validated","source":"22950490[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-05-04","source":"18090417[PMID]_9791535[PMID]_20971753[PMID]","terms":[{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000734","label":"Disinhibition","frequency":"Very 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