{"Name":"Frontotemporal dementia","DiseaseID__c":"GARD:0008436","id":8436,"encodedName":"frontotemporal-dementia","IsDeleted":false,"Disease_Name_Full__c":"Frontotemporal dementia","Xref_IDs__c":"230270009; C0338451; C84719; D057180; DOID:9255; G31.0; HP:0002145; MEDGEN:83266; MONDO:0017276; ORPHA:282","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017276","Disease_Description__c":"Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms).","GARD_Name__c":"Frontotemporal dementia","GARD_Synonym__c":"dementia, frontotemporal, with or without parkinsonism; frontotemporal dementia with parkinsonism; frontotemporal dementia with parkinsonism-17; frontotemporal lobar degeneration; frontotemporal lobar degeneration with tau inclusions; frontotemporal lobe dementia; frontotemporal lobe dementia (fldem); ftd; ftd1; ftld with tau inclusions; multiple system tauopathy with presenile dementia; pallidopontonigral degeneration; wilhelmsen-lynch disease; wilhemsen-lynch disease","Curated_Disease_Description_Source__c":"GARD:0008436","Curated_Disease_Description__c":"Frontotemporal dementias (FTDs) are a group of neurodegenerative disorders associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include marked changes in social behavior and personality, and/or problems with language. People with behavior changes may have disinhibition (with socially inappropriate behavior), apathy and loss of empathy, hyperorality (eating excessive amounts of food or attempting to consume inedible things), agitation, compulsive behavior, and various other changes. Examples of problems with language include difficulty speaking or understanding speech. Some people with FTD also develop a motor syndrome such as parkinsonism or motor neuron disease (which may be associated with various additional symptoms). There is a strong genetic component to FTDs. It sometimes follows an autosomal dominant inheritance pattern, or sometimes there is a general family history of dementia or psychiatric disorders. The three main genes responsible for familial FTD are MAPT, GRN, and C9orf72. However, the genetic cause of familial FTD cannot always be identified.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:282","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017276","ORPHANET_ID__c":"ORPHA:282","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Demencia frontotemporal","Spanish_Description_Source__c":"ORPHA:282","Spanish_Description__c":"La demencia frontotemporal (DFT) comprende un grupo de trastornos neurodegenerativos, caracterizados por cambios progresivos de la conducta, disfunción ejecutiva y deterioro del lenguaje, como resultado de la degeneración de las cortezas prefrontal medial y frontoinsular. Se han identificado cuatro subtipos clínicos: demencia semántica, afasia progresiva no fluente, DFT variante conductual y atrofia del lóbulo temporal derecho (consulte estos términos).","Spanish_Disease_Name__c":"demencia frontotemporal","Spanish_GARD_Synonym__c":"dft","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Frontotemporal dementias (FTDs) are a group of neurodegenerative disorders associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include marked changes in social behavior and personality, and/or problems with language. People with behavior changes may have disinhibition (with socially inappropriate behavior), apathy and loss of empathy, hyperorality (eating excessive amounts of food or attempting to consume inedible things), agitation, compulsive behavior, and various other changes. Examples of problems with language include difficulty speaking or understanding speech. Some people with FTD also develop a motor syndrome such as parkinsonism or motor neuron disease (which may be associated with various additional symptoms). There is a strong genetic component to FTDs. It sometimes follows an autosomal dominant inheritance pattern, or sometimes there is a general family history of dementia or psychiatric disorders. The three main genes responsible for familial FTD are MAPT, GRN, and C9orf72. However, the genetic cause of familial FTD cannot always be identified.","Curated_Disease_Description_Source__c":"GARD:0008436","GARD_Synonym__c":"dementia, frontotemporal, with or without parkinsonism; frontotemporal dementia with parkinsonism; frontotemporal dementia with parkinsonism-17; frontotemporal lobar degeneration; frontotemporal lobar degeneration with tau inclusions; frontotemporal lobe dementia; frontotemporal lobe dementia (fldem); ftd; ftd1; ftld with tau inclusions; multiple system tauopathy with presenile dementia; pallidopontonigral degeneration; wilhelmsen-lynch disease; wilhemsen-lynch disease","Name":"Frontotemporal dementia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cure MAPT FTD","Website__c":"https://www.curemaptftd.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación de Demencia Frontotemporal","Website__c":"http://www.adef.es"},{"Account_Name__c":"The Association for Frontotemporal Degeneration","Website__c":"https://www.theaftd.org/"},{"Account_Name__c":"Cure VCP Disease, Inc.","Website__c":"https://www.curevcp.org/"},{"Account_Name__c":"CurePSP","Website__c":"https://www.psp.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Psychiatry","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:282"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0338451"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0520716"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1505","Source__c":"Gene Review","Xref__c":"NBK1505"},{"URL__c":"https://www.orpha.net/en/disease/detail/282","Source__c":"C0338451; MONDO:0017276; ORPHA:282","Xref__c":"ORPHA:282"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84719","Source__c":"C0338451; MONDO:0017276","Xref__c":"C84719"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9255","Source__c":"MONDO:0017276","Xref__c":"DOID:9255"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C057180","Source__c":"C0338451; MONDO:0017276","Xref__c":"D057180"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83266","Source__c":"C0338451","Xref__c":"MEDGEN:83266"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0338451","Source__c":"C0338451","Xref__c":"C0338451"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G31.0","Source__c":"MONDO:0017276","Xref__c":"G31.0"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002145","Source__c":"C0338451","Xref__c":"HP:0002145"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017276","Source__c":"GARD:0008436","Xref__c":"MONDO:0017276"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230270009","Source__c":"C0338451","Xref__c":"230270009"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/frontotemporal-dementia-and-other-frontotemporal-disorders"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PSEN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/psen1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MAPT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mapt","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry"]},"synonyms":["dementia, frontotemporal, with or without parkinsonism"," frontotemporal dementia with parkinsonism"," frontotemporal dementia with parkinsonism-17"," frontotemporal lobar degeneration"," frontotemporal lobar degeneration with tau inclusions"," frontotemporal lobe dementia"," frontotemporal lobe dementia (fldem)"," ftd"," ftd1"," ftld with tau inclusions"," multiple system tauopathy with presenile dementia"," pallidopontonigral degeneration"," wilhelmsen-lynch disease"," wilhemsen-lynch disease"],"spanishId":13616,"spanishName":"demencia-frontotemporal"}