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PARK1
MCID: PRK085
MIFTS: 35
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Parkinson Disease 1, Autosomal Dominant (PARK1)
Categories:
Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Parkinson Disease 1, Autosomal Dominant:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder insidious onset onset mid to late adulthood levodopa-responsive HPO:32
parkinson disease 1, autosomal dominant:
Onset and clinical course insidious onset progressive Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Muscle diseases Mental diseases |
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UniProtKB/Swiss-Prot
:
75
Parkinson disease 1, autosomal dominant: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features.
MalaCards based summary : Parkinson Disease 1, Autosomal Dominant, also known as parkinson disease 1, is related to parkinson disease 4, autosomal dominant and parkinson disease 3, autosomal dominant, and has symptoms including myoclonus, bradykinesia and resting tremor. An important gene associated with Parkinson Disease 1, Autosomal Dominant is SNCA (Synuclein Alpha). Affiliated tissues include brain, and related phenotypes are depressivity and dysarthria Disease Ontology : 12 A Parkinson's disease that has material basis in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1. OMIM : 57 Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; 104300), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see 168600. (168601) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:168601Human phenotypes related to Parkinson Disease 1, Autosomal Dominant:32 (show all 20)
UMLS symptoms related to Parkinson Disease 1, Autosomal Dominant:myoclonus, bradykinesia, resting tremor, sleep disturbances, muscle rigidity, urgency of micturition |
Interventional clinical trials:
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MalaCards organs/tissues related to Parkinson Disease 1, Autosomal Dominant:41
Brain
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Articles related to Parkinson Disease 1, Autosomal Dominant:
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Genes related to Parkinson Disease 1, Autosomal Dominant (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 1, Autosomal Dominant:75
ClinVar genetic disease variations for Parkinson Disease 1, Autosomal Dominant:6 (show all 13)
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Search
GEO
for disease gene expression data for Parkinson Disease 1, Autosomal Dominant.
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