{"Name":"Parkinson disease 3, autosomal dominant","DiseaseID__c":"GARD:0008578","id":8578,"encodedName":"parkinson-disease-3-autosomal-dominant","IsDeleted":false,"Disease_Name_Full__c":"Parkinson disease 3, autosomal dominant","Xref_IDs__c":"C1865581; C566552; DOID:0111250; MEDGEN:355499; MONDO:0011220; OMIM:602404","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:602404","Disease_Description__c":"For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.","GARD_Name__c":"Parkinson disease 3, autosomal dominant","GARD_Synonym__c":"park3; parkinson disease 3; parkinson disease 3, autosomal dominant lewy body","Curated_Disease_Description_Source__c":"MEDGEN:C1865581","Curated_Disease_Description__c":"Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.Parkinson disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.Generally, Parkinson disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:602404","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011220","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":"Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.Parkinson disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.Generally, Parkinson disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson disease.","Curated_Disease_Description_Source__c":"MEDGEN:C1865581","GARD_Synonym__c":"park3; parkinson disease 3; parkinson disease 3, autosomal dominant lewy body","Name":"Parkinson disease 3, autosomal dominant","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dysautonomia International","Website__c":"https://www.dysautonomiainternational.org/"},{"Account_Name__c":"Parkinson & Movement Disorder Alliance","Website__c":"https://www.pmdalliance.org/"},{"Account_Name__c":"Parkinson's Foundation","Website__c":"https://www.parkinson.org/"},{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.org/"},{"Account_Name__c":"Michael J. Fox Foundation for Parkinson's Research","Website__c":"https://www.michaeljfox.org/"},{"Account_Name__c":"Parkinson's Patients Support Groups, Inc. of Northern & Central California","Website__c":"https://www.ppsg.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008578","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355499","Source__c":"C1865581","Xref__c":"MEDGEN:355499"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865581","Source__c":"C1865581","Xref__c":"C1865581"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566552","Source__c":"MONDO:0011220","Xref__c":"C566552"},{"URL__c":"https://www.omim.org/entry/602404","Source__c":"C1865581; MONDO:0011220","Xref__c":"OMIM:602404"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111250","Source__c":"MONDO:0011220","Xref__c":"DOID:0111250"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011220","Source__c":"GARD:0008578","Xref__c":"MONDO:0011220"}],"tags":{},"synonyms":["park3"," parkinson disease 3"," parkinson disease 3, autosomal dominant lewy body"]}