{"Name":"GRN-related frontotemporal lobar degeneration with Tdp43 inclusions","DiseaseID__c":"GARD:0010004","id":10004,"encodedName":"grn-related-frontotemporal-lobar-degeneration-with-tdp43-inclusions","IsDeleted":false,"Disease_Name_Full__c":"GRN-related frontotemporal lobar degeneration with Tdp43 inclusions","Xref_IDs__c":"C1843792; DOID:0060672; MEDGEN:375285; MONDO:0011842; OMIM:607485","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011842","Disease_Description__c":"A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.","GARD_Name__c":"GRN-related frontotemporal lobar degeneration with Tdp43 inclusions","GARD_Synonym__c":"dementia, hereditary dysphasic disinhibition; frontotemporal dementia with tdp43 inclusions, grn-related; frontotemporal lobar degeneration with ubiquitin-positive inclusions; ftd2; ftld-tdp, grn-related; grn-related frontotemporal dementia","Curated_Disease_Description_Source__c":"MONDO:0011842","Curated_Disease_Description__c":"A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011842","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.","Curated_Disease_Description_Source__c":"MONDO:0011842","GARD_Synonym__c":"dementia, hereditary dysphasic disinhibition; frontotemporal dementia with tdp43 inclusions, grn-related; frontotemporal lobar degeneration with ubiquitin-positive inclusions; ftd2; ftld-tdp, grn-related; grn-related frontotemporal dementia","Name":"GRN-related frontotemporal lobar degeneration with Tdp43 inclusions","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Association for Frontotemporal Degeneration","Website__c":"https://www.theaftd.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843792","Source__c":"C1843792","Xref__c":"C1843792"},{"URL__c":"https://www.omim.org/entry/607485","Source__c":"C1843792; MONDO:0011842","Xref__c":"OMIM:607485"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375285","Source__c":"C1843792","Xref__c":"MEDGEN:375285"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060672","Source__c":"MONDO:0011842","Xref__c":"DOID:0060672"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011842","Source__c":"GARD:0010004","Xref__c":"MONDO:0011842"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1371","Source__c":"Gene Review","Xref__c":"NBK1371"},{"URL__c":"https://medlineplus.gov/genetics/condition/grn-related-frontotemporal-lobar-degeneration","Source__c":"GARD:0010004","Xref__c":"https://medlineplus.gov/genetics/condition/grn-related-frontotemporal-lobar-degeneration"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GRN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/grn","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006956","HPO_Synonym__c":"Dilatation of lateral cerebral ventricles; Dilation of lateral ventricles; Enlarged lateral ventricles; Lateral ventricle dilatation","HPO_Name__c":"Lateral ventricle dilatation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000713","HPO_Synonym__c":"Psychomotor agitation","HPO_Name__c":"Agitation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","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":"OMIM:607485","Feature__r":{"HPO_Description__c":"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001300","HPO_Name__c":"Parkinsonism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002145","HPO_Name__c":"Frontotemporal dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002591","HPO_Synonym__c":"Hyperphagia; Voracious appetite","HPO_Name__c":"Polyphagia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000741","HPO_Synonym__c":"Lack of feeling, emotion, interest; Lack of feeling, emotion, interest, motivation, initiation; State of indifference","HPO_Name__c":"Apathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"Gliosis is the focal proliferation of glial cells in the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002171","HPO_Synonym__c":"Cerebral gliosis; Excess astrocytes in brain","HPO_Name__c":"Gliosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000738","HPO_Synonym__c":"Hallucination; Hallucinations; Sensory hallucination","HPO_Name__c":"Hallucinations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002529","HPO_Synonym__c":"Loss of brain cells; Neuronal loss; Neuronal loss in CNS","HPO_Name__c":"Neuronal loss in central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002300","HPO_Synonym__c":"Inability to speak; Muteness","HPO_Name__c":"Mutism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"The repetitive production of the same response to different commands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030223","HPO_Synonym__c":"Perseveration; Perseverative behavior","HPO_Name__c":"Perseverative thought","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008762","HPO_Synonym__c":"Repetitive compulsive behavior","HPO_Name__c":"Repetitive compulsive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002186","HPO_Name__c":"Apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"Progressive loss of previously present language abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007064","HPO_Name__c":"Progressive language deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:5200321","HPO_Synonym__c":"Hypersexuality; Increase in sexual behavior; Increased sexual behavior","HPO_Name__c":"Amplification of sexual behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002185","HPO_Synonym__c":"Neurofibrillary tangles composed of disordered microtubules in neurons; NFTs; Paired helical filaments; Tau-positive neurofibrillary tangles; Tau-positive tangle","HPO_Name__c":"Neurofibrillary tangles","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"An abnormal shift in patterns of thinking, acting, or feeling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000751","HPO_Synonym__c":"Personality change; Personality changes","HPO_Name__c":"Personality changes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000734","HPO_Synonym__c":"Impulse control disorders; Lack of self-control","HPO_Name__c":"Disinhibition","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000710","HPO_Synonym__c":"Hyperoralia; Hyperorality; Mouthing","HPO_Name__c":"Hyperorality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100315","HPO_Name__c":"Lewy bodies","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607485","Feature__r":{"HPO_Description__c":"The concentration of progranulin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6001187","HPO_Name__c":"Reduced circulating progranulin concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{},"synonyms":["dementia, hereditary dysphasic disinhibition"," frontotemporal dementia with tdp43 inclusions, grn-related"," frontotemporal lobar degeneration with ubiquitin-positive inclusions"," ftd2"," ftld-tdp, grn-related"," grn-related frontotemporal dementia"]}