{"Name":"Pick disease","DiseaseID__c":"GARD:0024611","id":24611,"encodedName":"pick-disease","IsDeleted":false,"Disease_Name_Full__c":"Pick disease","Xref_IDs__c":"13092008; 423022170; C0236642; C85008; D020774; DOID:11870; G31.01; MEDGEN:116020; MONDO:0008243; OMIM:172700","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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008243","Disease_Description__c":"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.","GARD_Name__c":"Pick disease","GARD_Synonym__c":"dementia in pick's disease; dementia with lobar atrophy and neuronal cytoplasmic inclusions; lobar atrophy of brain; pick disease of brain; pick disease of the brain; pick's disease","Curated_Disease_Description_Source__c":"MONDO:0008243","Curated_Disease_Description__c":"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.","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 Entity","MONDO_ID__c":"MONDO:0008243","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 rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.","Curated_Disease_Description_Source__c":"MONDO:0008243","GARD_Synonym__c":"dementia in pick's disease; dementia with lobar atrophy and neuronal cytoplasmic inclusions; lobar atrophy of brain; pick disease of brain; pick disease of the brain; pick's disease","Name":"Pick disease","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=13092008","Source__c":"MONDO:0008243","Xref__c":"13092008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11870","Source__c":"MONDO:0008243","Xref__c":"DOID:11870"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020774","Source__c":"C0236642; MONDO:0008243","Xref__c":"D020774"},{"URL__c":"https://www.omim.org/entry/172700","Source__c":"C0236642; MONDO:0008243","Xref__c":"OMIM:172700"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G31.01","Source__c":"MONDO:0008243","Xref__c":"G31.01"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=116020","Source__c":"C0236642","Xref__c":"MEDGEN:116020"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0236642","Source__c":"C0236642","Xref__c":"C0236642"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85008","Source__c":"C0236642; MONDO:0008243","Xref__c":"C85008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008243","Source__c":"GARD:0024611","Xref__c":"MONDO:0008243"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1505","Source__c":"Gene Review","Xref__c":"NBK1505"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022170","Xref__c":"423022170"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MAPT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mapt","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PSEN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/psen1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:172700","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:172700","Feature__r":{"HPO_Description__c":"The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002476","HPO_Synonym__c":"Archaic reflex; Primitive reflexes","HPO_Name__c":"Primitive reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:172700","Feature__r":{"HPO_Description__c":"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002463","HPO_Synonym__c":"Language disorder","HPO_Name__c":"Language impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:172700","Feature__r":{"HPO_Description__c":"Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010529","HPO_Synonym__c":"Echoing another person's speech; Echologia; Echophrasia; Repeated speech","HPO_Name__c":"Echolalia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:172700","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:172700","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:172700","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:172700","Feature__r":{"HPO_Description__c":"Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000748","HPO_Synonym__c":"Inappropriate laughter","HPO_Name__c":"Inappropriate laughter","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:172700","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:172700","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:172700","Feature__r":{"HPO_Description__c":"Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000733","HPO_Synonym__c":"Abnormal repetitive mannerism; Repetitive behavior; Repetitive movements; Repetitive, stereotypic behavior; Stereotyped; Stereotyped behavior; Stereotyped behaviors; Stereotypical motor behavior; Stereotypical motor behaviors; Stimming","HPO_Name__c":"Motor stereotypy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:172700","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:172700","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:172700","Feature__r":{"HPO_Description__c":"A reduction in willful and motivated goal-directed behavior that is considered the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000745","HPO_Synonym__c":"Diminished energy; Diminished motivation; Diminished volitional state; Lack of initiative; Lack of motivation; Lacking in initiative; Lacks initiative","HPO_Name__c":"Abnormal diminished volition","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:172700","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:172700","Feature__r":{"HPO_Description__c":"A diminished ability to experience, express, or connect with emotions whether positive or negative. This state is often characterized by a pervasive sense of emotional disconnection or detachment, where the individual may report feeling \\\"numb\\\" or lacking emotional responses that were previously present. The reduction in emotional response can range from mild dampening of emotional responses to a near-total absence of emotional engagement. It is essential to consider the individual's baseline emotional capacity, as changes may be more significant in those who previously had a wide emotional range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030213","HPO_Synonym__c":"Emotional blunting; Emotional Numbness; Emotionally barren; Inability to feel emotions","HPO_Name__c":"Emotional dearth","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:172700","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"}}],"tags":{},"synonyms":["dementia in pick's disease"," dementia with lobar atrophy and neuronal cytoplasmic inclusions"," lobar atrophy of brain"," pick disease of brain"," pick disease of the brain"," pick's disease"]}