Parkinson disease 1, autosomal dominant is a neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity, and postural instability. Additional features include characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies in various brain areas. It typically manifests after age 50, but early-onset cases are known. The majority of cases are sporadic, with a multifactorial etiology involving environmental and genetic factors. Some patients have a positive family history, with familial forms starting at earlier ages and having atypical clinical features. The disease is linked to a mutation in the alpha-synuclein gene on chromosome 4q22.1.
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.