{"Name":"Semantic dementia","DiseaseID__c":"GARD:0010792","id":10792,"encodedName":"semantic-dementia","IsDeleted":false,"Disease_Name_Full__c":"Semantic dementia","Xref_IDs__c":"230288001; C0338462; DOID:0081391; HP:0030219; MEDGEN:83268; MONDO:0010857; ORPHA:100069","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010857","Disease_Description__c":"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.","GARD_Name__c":"Semantic dementia","GARD_Synonym__c":"dementia, frontotemporal; semantic primary progressive aphasia; semantic variant ppa; trouble remembering words","Curated_Disease_Description_Source__c":"MONDO:0010857","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:100069","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010857","ORPHANET_ID__c":"ORPHA:100069","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Demencia semántica","Spanish_Description_Source__c":"ORPHA:100069","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"demencia semántica","Spanish_GARD_Synonym__c":"afasia primaria progresiva semántica; app semántica","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":"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.","Curated_Disease_Description_Source__c":"MONDO:0010857","GARD_Synonym__c":"dementia, frontotemporal; semantic primary progressive aphasia; semantic variant ppa; trouble remembering words","Name":"Semantic dementia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Aphasia Center of Maine","Website__c":"https://www.aphasiacenterofmaine.org/"},{"Account_Name__c":"Cure MAPT FTD","Website__c":"https://www.curemaptftd.org/"},{"Account_Name__c":"National Aphasia Association","Website__c":"https://www.aphasia.org/"},{"Account_Name__c":"Aphasia Hope Foundation","Website__c":"https://aphasiahope.wpengine.com/"}],"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:100069"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010792","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1505","Source__c":"Gene Review","Xref__c":"NBK1505"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0338462","Source__c":"C0338462","Xref__c":"C0338462"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83268","Source__c":"C0338462","Xref__c":"MEDGEN:83268"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081391","Source__c":"MONDO:0010857","Xref__c":"DOID:0081391"},{"URL__c":"https://www.orpha.net/en/disease/detail/100069","Source__c":"C0338462; MONDO:0010857; ORPHA:100069","Xref__c":"ORPHA:100069"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030219","Source__c":"C0338462","Xref__c":"HP:0030219"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010857","Source__c":"GARD:0010792","Xref__c":"MONDO:0010857"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230288001","Source__c":"C0338462","Xref__c":"230288001"}],"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}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:100069","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100069","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100069","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002381","HPO_Synonym__c":"Difficulty finding words; Losing words; Loss of words","HPO_Name__c":"Aphasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100069","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030784","HPO_Synonym__c":"Amnesic aphasia; Amnestic aphasia; Anomia; Nominal aphasia; Word-finding difficulty","HPO_Name__c":"Anomic aphasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100069","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Partial or complete wasting (loss) of brain tissue that was once present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012444","HPO_Synonym__c":"Brain degeneration; Brain wasting","HPO_Name__c":"Brain atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100069","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010523","HPO_Synonym__c":"Text blindness; Word blindness","HPO_Name__c":"Alexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100069","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010526","HPO_Name__c":"Dysgraphia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100069","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The condition is known as visual agnosia, which refers to the inability to recognize objects that are visually presented, even though the individual may have normal visual field, acuity, color vision, brightness discrimination, language, and memory.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030222","HPO_Name__c":"Visual agnosia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100069","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010522","HPO_Synonym__c":"Reading disability","HPO_Name__c":"Dyslexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100069","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abulia is characterized by difficulty in initiating and sustaining spontaneous movements; the person often appears frozen but will move hesitantly on request. There are frequently substantial reductions in emotional responsiveness, spontaneous speech, and social interaction. The individual appears to be content to remain still and inactive with minimal movement, but moves or reacts hesitantly in response to interactions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012671","HPO_Synonym__c":"Aboulia","HPO_Name__c":"Abulia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry"]},"synonyms":["dementia, frontotemporal"," semantic primary progressive aphasia"," semantic variant ppa"," trouble remembering words"]}