{"Name":"Parkinson disease 17","DiseaseID__c":"GARD:0018478","id":18478,"encodedName":"parkinson-disease-17","IsDeleted":false,"Disease_Name_Full__c":"Parkinson disease 17","Xref_IDs__c":"C201520; C3280133; DOID:0060897; MEDGEN:481763; MONDO:0013625; OMIM:614203","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013625","Disease_Description__c":"Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene.","GARD_Name__c":"Parkinson disease 17","GARD_Synonym__c":"autosomal dominant parkinson disease 17; park17; parkinson disease caused by mutation in vps35; parkinson disease type 17; vps35 parkinson disease","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Parkinson disease 17 (PD17) is a genetic movement disorder that affects adults. This type of Parkinson disease is very similar to the more common form of the disease. It is characterized by shaking, slowness of movement, stiffness, and problems with balance. These symptoms tend to be milder. They also present about ten years earlier than those seen in the common form of Parkinson disease. Other symptoms that may occur include problems with thinking and memory, mood changes. PD17 can cause difficulties with the sense of smell and with the body's automatic functions like blood pressure and digestion. PD17 is caused by mutations in the VPS35 gene. It is inherited in an autosomal dominant pattern. This means a single copy of the mutated gene is sufficient to cause the disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:614203","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013625","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 17 (PD17) is a genetic movement disorder that affects adults. This type of Parkinson disease is very similar to the more common form of the disease. It is characterized by shaking, slowness of movement, stiffness, and problems with balance. These symptoms tend to be milder. They also present about ten years earlier than those seen in the common form of Parkinson disease. Other symptoms that may occur include problems with thinking and memory, mood changes. PD17 can cause difficulties with the sense of smell and with the body's automatic functions like blood pressure and digestion. PD17 is caused by mutations in the VPS35 gene. It is inherited in an autosomal dominant pattern. This means a single copy of the mutated gene is sufficient to cause the disorder.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"autosomal dominant parkinson disease 17; park17; parkinson disease caused by mutation in vps35; parkinson disease type 17; vps35 parkinson disease","Name":"Parkinson disease 17","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Parkinson Disease Association","Website__c":"https://www.apdaparkinson.org/"},{"Account_Name__c":"Parkinson's Foundation","Website__c":"https://www.parkinson.org/"},{"Account_Name__c":"Michael J. Fox Foundation for Parkinson's Research","Website__c":"https://www.michaeljfox.org/"},{"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":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1223","Xref__c":"NBK1223"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK447258","Source__c":"Gene Review","Xref__c":"NBK447258"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=481763","Source__c":"C3280133","Xref__c":"MEDGEN:481763"},{"URL__c":"https://www.omim.org/entry/614203","Source__c":"C3280133; MONDO:0013625","Xref__c":"OMIM:614203"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280133","Source__c":"C3280133","Xref__c":"C3280133"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060897","Source__c":"MONDO:0013625","Xref__c":"DOID:0060897"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013625","Source__c":"GARD:0018478","Xref__c":"MONDO:0013625"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C201520","Source__c":"C3280133","Xref__c":"C201520"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"VPS35","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614203","Feature__r":{"HPO_Description__c":"Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002304","HPO_Name__c":"Akinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614203","Feature__r":{"HPO_Description__c":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002172","HPO_Synonym__c":"Balance impairment","HPO_Name__c":"Postural instability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614203","Feature__r":{"HPO_Description__c":"A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100660","HPO_Synonym__c":"Disorder of involuntary muscle movements; Dyskinesis","HPO_Name__c":"Dyskinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614203","Feature__r":{"HPO_Description__c":"Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002067","HPO_Synonym__c":"Slow movements; Slowness of movements","HPO_Name__c":"Bradykinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614203","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:614203","Feature__r":{"HPO_Description__c":"A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002322","HPO_Synonym__c":"Rest tremor; Resting tremor; Tremor at rest","HPO_Name__c":"Resting tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614203","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614203","Feature__r":{"HPO_Description__c":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002063","HPO_Synonym__c":"Muscle rigidity; Rigidity","HPO_Name__c":"Rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["autosomal dominant parkinson disease 17"," park17"," parkinson disease caused by mutation in vps35"," parkinson disease type 17"," vps35 parkinson disease"]}