{"orpha":100069,"name":"Semantic dementia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Semantic primary progressive aphasia","Semantic variant PPA"],"definition":"Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100069/","orphanet_url":"https://www.orpha.net/en/disease/detail/100069","names":{"fr":{"name":"Démence sémantique","synonyms":["APP sémantique","Aphasie primaire progressive sémantique"],"definition":"La démence sémantique (APP sémantique) est une forme de démence fronto-temporale (DFT) caractérisée par une perte profonde progressive et amodale de la connaissance sémantique (combinaison d'une agnosie visuelle associative, d'une anomie, d'une dyslexie de surface ou d'une dysgraphie et d'une perte de la compréhension de la signification des mots) et des troubles comportementaux, attribuables à la dégénérescence des lobes temporaux antérieurs."},"de":{"name":"Semantische Demenz"},"es":{"name":"Demencia semántica","synonyms":["APP semántica","Afasia primaria progresiva semántica"],"definition":"Es una forma de demencia frontotemporal (DFT) caracterizada por la pérdida progresiva, amodal y profunda del conocimiento semántico (combinación de agnosia asociativa visual, anomia, dislexia superficial o disgrafía y comprensión erronea del significado de las palabras), así como trastornos de conducta, atribuibles a la degeneración de los lóbulos temporales anteriores."},"it":{"name":"Demenza semantica","synonyms":["Afasia primitiva progressiva semantica","PPA, variante semantica"]},"nl":{"name":"Semantische dementie","synonyms":["Semantische primaire progressieve afasie","Semantische variante PPA"],"definition":"'Semantische dementie is een vorm van frontotemporale dementie (FTD; zie deze term) die wordt gekarakteriseerd door progressief, amodaal en totaal verlies van semantische kennis (combinatie van visuele associatieve agnosie, anomie, oppervlaktedyslexie of dysgrafie en een verstoord begrip van de betekenis van woorden) en gedragsafwijkingen, te wijten aan de degeneratie van de voorste temporale hersenkwabben.'"},"pt":{"name":"Afasia, progressiva primária, tipo fluente"},"pl":{"name":"Demencja semantyczna","synonyms":["Semantyczna pierwotna postępująca afazja","Semantyczny wariant PPA"]},"cs":{"name":"Sémantická demence","synonyms":["Sémantická primární progresivní afázie","Sémantická varianta PPA"]},"uk":{"name":"Семантична деменція","synonyms":["Семантична первинна прогресуюча афазія","Семантичний варіант PPA"],"definition":"Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes."},"zh":{"name":"词义性痴呆","synonyms":["语义原发性进行性失语"],"definition":"语义性痴呆是额颞叶痴呆(FTD，见该词条)的一种形式，其特征是进行性、无节律性和深度的语义知识丧失(视觉联想失认、忘名病、表层阅读障碍或书写困难以及对词义的理解中断)和行为异常，可归因于颞叶前叶的退化。"},"tr":{"name":"Anlamsal demans","synonyms":["Semantik varyant PPA","Anlamsal primer ilerleyici afazi"]}},"xrefs":[{"source":"OMIM","code":"172700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600274","qualifier":"NTBT","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":"983592843"},{"source":"MONDO","code":"0010857","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0338462","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10792","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":95432,"name":"Primary progressive aphasia","classifications":[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":"C9ORF72","name":"C9orf72-SMCR8 complex subunit","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"23597030[PMID]","hgnc":"28337","ensembl":"ENSG00000147894","omim":"614260","loci":["9p21.2"]},{"symbol":"CHMP2B","name":"charged multivesicular body protein 2B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23597030[PMID]","hgnc":"24537","ensembl":"ENSG00000083937","omim":"609512","loci":["3p11.2"]},{"symbol":"GRN","name":"granulin precursor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23597030[PMID]","hgnc":"4601","ensembl":"ENSG00000030582","omim":"138945","loci":["17q21.31"]},{"symbol":"MAPT","name":"microtubule associated protein tau","gene_type":"gene with protein product","association":"Major susceptibility factor 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"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":49.0,"area":"Worldwide","status":"Validated","source":"21242493[PMID]_19884571[PMID]_17923640[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"21242493[PMID]_19884571[PMID]_17923640[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-29","source":"16317259[PMID]_29213413[PMID]","terms":[{"hpo":"HP:0030784","label":"Anomia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030222","label":"Visual agnosia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012671","label":"Abulia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010523","label":"Alexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010526","label":"Dysgraphia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Frequent (79-30%)","criteria":null}]}}