{"Name":"Autosomal recessive early-onset Parkinson disease 6","DiseaseID__c":"GARD:0018605","id":18605,"encodedName":"autosomal-recessive-early-onset-parkinson-disease-6","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive early-onset Parkinson disease 6","Xref_IDs__c":"C184990; C1853833; C565276; DOID:0060369; MEDGEN:342982; MONDO:0011613; OMIM:605909","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:0011613","Disease_Description__c":"Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene.","GARD_Name__c":"Autosomal recessive early-onset Parkinson disease 6","GARD_Synonym__c":"park6; parkinson disease 6, early-onset; parkinson disease 6, modifier of; parkinson disease caused by mutation in pink1; pink1 parkinson disease; pink1 type of young-onset parkinson disease; pink1-related parkinson disease","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Autosomal recessive early-onset Parkinson disease 6 is a genetic condition caused by changes in the PINK1 gene. This condition frequently presents in the early-to-mid-30s. It is characterized by slowly progressive symptoms. These include tremors, slow movement, muscle stiffness, and muscle contractions. Most symptoms are very similar to those seen in other forms of Parkinson's disease. For some people, this condition affects posture, reflexes, behavior, and mental health. As the name suggests, this condition is inherited in an autosomal recessive pattern. This means that two copies of the mutated gene are required to cause the disease. A small sub-set of people with this condition have only one mutated gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:605909","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011613","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":"Autosomal recessive early-onset Parkinson disease 6 is a genetic condition caused by changes in the PINK1 gene. This condition frequently presents in the early-to-mid-30s. It is characterized by slowly progressive symptoms. These include tremors, slow movement, muscle stiffness, and muscle contractions. Most symptoms are very similar to those seen in other forms of Parkinson's disease. For some people, this condition affects posture, reflexes, behavior, and mental health. As the name suggests, this condition is inherited in an autosomal recessive pattern. This means that two copies of the mutated gene are required to cause the disease. A small sub-set of people with this condition have only one mutated gene.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"park6; parkinson disease 6, early-onset; parkinson disease 6, modifier of; parkinson disease caused by mutation in pink1; pink1 parkinson disease; pink1 type of young-onset parkinson disease; pink1-related parkinson disease","Name":"Autosomal recessive early-onset Parkinson disease 6","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/NBK26472","Source__c":"Gene Review","Xref__c":"NBK26472"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060369","Source__c":"MONDO:0011613","Xref__c":"DOID:0060369"},{"URL__c":"https://www.omim.org/entry/605909","Source__c":"C1853833; MONDO:0011613","Xref__c":"OMIM:605909"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853833","Source__c":"C1853833","Xref__c":"C1853833"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342982","Source__c":"C1853833","Xref__c":"MEDGEN:342982"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565276","Source__c":"MONDO:0011613","Xref__c":"C565276"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011613","Source__c":"GARD:0018605","Xref__c":"MONDO:0011613"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C184990","Source__c":"C1853833","Xref__c":"C184990"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PINK1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pink1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:605909","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605909","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:605909","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:605909","Feature__r":{"HPO_Description__c":"Urge incontinence is the strong, sudden need to urinate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000012","HPO_Synonym__c":"Overactive bladder; Urgent micturition; Urinary urgency","HPO_Name__c":"Urinary urgency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605909","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:605909","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605909","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"}},{"Provided_By__c":"OMIM:605909","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":"OMIM:605909","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605909","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605909","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"}}],"tags":{},"synonyms":["park6"," parkinson disease 6, early-onset"," parkinson disease 6, modifier of"," parkinson disease caused by mutation in pink1"," pink1 parkinson disease"," pink1 type of young-onset parkinson disease"," pink1-related parkinson disease"]}