{"orpha":1020,"name":"Early-onset autosomal dominant Alzheimer disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EOFAD","Early-onset familial autosomal dominant Alzheimer disease","Familial Alzheimer disease"],"definition":"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1020/","orphanet_url":"https://www.orpha.net/en/disease/detail/1020","names":{"fr":{"name":"Maladie d'Alzheimer précoce autosomique dominante","synonyms":["Maladie d'Alzheimer familiale autosomique dominante"],"definition":"La maladie d'Alzheimer précoce à transmission autosomique dominante est une démence progressive qui s'accompagne d'un déclin des fonctions cognitives. Elle diffère de la forme sporadique de la maladie d'Alzheimer, principalement par un âge de début plus précoce, en général avant 60 ans."},"de":{"name":"Alzheimer-Krankheit mit frühem Beginn, autosomal-dominante","synonyms":["Alzheimer-Krankheit, familiäre","EOFAD"],"definition":"Die früh einsetzende autosomal-dominante Alzheimer-Krankheit (EOAD) ist eine progressive Demenz mit einer Abnahme der kognitiven Funktionen. EOAD weist den gleichen Phänotyp wie die sporadische Alzheimer-Krankheit (AD) auf, setzt jedoch bereits in jungen Jahren ein, in der Regel vor dem 60. Lebensjahr."},"es":{"name":"Enfermedad de Alzheimer de inicio precoz autosómica dominante","synonyms":["Enfermedad de Alzheimer familiar de inicio precoz autosómica dominante"],"definition":"Es una demencia progresiva con reducción de las funciones cognitivas. Presenta el mismo fenotipo que la enfermedad de Alzheimer (EA) esporádica pero tiene una edad de aparición precoz, habitualmente antes de los 60 años."},"it":{"name":"Malattia di Alzheimer, autosomica dominante, a esordio precoce","synonyms":["EOFAD","Malattia di Alzheimer familiare","Malattia di Alzheimer familiare, autosomica dominante, a esordio precoce"]},"nl":{"name":"Autosomaal dominante ziekte van Alzheimer met vroege aanvang","synonyms":["EOFAD","Familiale autosomaal dominante ziekte van Alzheimer met vroege aanvang","Familiale ziekte van Alzheimer"],"definition":"Autosomaal dominante ziekte van Alzheimer met vroege aanvang (EOAD) is een progressieve dementie met reductie van cognitieve functies. EOAD vertoont hetzelfde fenotype als sporadische ziekte van Alzheimer (AD) maar heeft een vroegere aanvangsleeftijd, meestal voor de leeftijd van 60 jaar."},"pt":{"name":"Doença Alzheimer de início precoce autossómica dominante","synonyms":["Doença de Alzheimer familiar"],"definition":"A doença Alzheimer autossómica dominante de início precoce (DAAD) é uma demência progressiva com redução das funções cognitivas. A DAAD apresenta o mesmo fenótipo que a doença Alzheimer (DAE) esporádica, mas tem início numa idade precoce, geralmente antes dos 60 anos."},"pl":{"name":"Wczesna postać autosomalnie dominującej choroby Alzheimera","synonyms":["EOFAD","Rodzinna choroba Alzheimera"]},"cs":{"name":"Autozomálně dominantní Alzheimerova nemoc s časným začátkem","synonyms":["EOFAD","Familiární forma Alzheimerovy nemoci","Familiární časná forma Alzheimerovy nemoci"]},"uk":{"name":"Аутосомно-домінантна хвороба Альцгеймера з раннім початком","synonyms":["Сімейна аутосомно-домінантна хвороба Альцгеймера з раннім початком","EOFAD","Сімейна хвороба Альцгеймера"],"definition":"Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old."},"zh":{"name":"早发性常染色体显性阿尔茨海默症","synonyms":["早发性家族性常染色体显性阿尔茨海默症"]},"tr":{"name":"Erken başlangıçlı otozomal dominant Alzheimer hastalığı","synonyms":["EOFAD","Ailesel Alzheimer hastalığı","Erken başlangıçlı ailesel otozomal dominant Alzheimer hastalığı"]}},"xrefs":[{"source":"OMIM","code":"104300","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"104310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602096","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604154","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605055","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605526","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606187","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606889","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607116","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607822","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609636","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609790","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611073","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611152","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611154","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G30.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"6D80.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"199015879"},{"source":"MONDO","code":"0015140","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0276496","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12798","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":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]}],"children":[],"genes":[{"symbol":"TOMM40","name":"translocase of outer mitochondrial membrane 40","gene_type":"gene with protein product","association":"Biomarker tested in","status":"Not yet assessed","source":"25201778[PMID]_23234877[PMID]","hgnc":"18001","ensembl":"ENSG00000130204","omim":"608061","loci":["19q13.32"]},{"symbol":"TREM2","name":"triggering receptor expressed on myeloid cells 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23380991[PMID]","hgnc":"17761","ensembl":"ENSG00000095970","omim":"605086","loci":["6p21.1"]},{"symbol":"APP","name":"amyloid beta precursor protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-02","source":"20301414[PMID]_28093855[PMID]","terms":[{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001289","label":"Confusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003791","label":"Deposits immunoreactive to beta-amyloid protein","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012759","label":"Neurodevelopmental abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002185","label":"Neurofibrillary tangles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000734","label":"Disinhibition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011446","label":"Abnormality of higher mental function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010526","label":"Dysgraphia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010525","label":"Finger agnosia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030219","label":"Semantic dementia","frequency":"Occasional (29-5%)","criteria":null}]}}