Parkinson Disease 1, Autosomal Dominant

External Ids:

OMIM 57 168601 Disease Ontology 12 DOID:0060367 MedGen 42 C1868595 C1868596 C3149705

MeSH 44 D010300 SNOMED-CT via HPO 69 263681008 75088002 21061000119107 35489007 78667006 8011004 32798002 127324008 17450006 288939007 40739000 16046003 399317006 25082004 53888004 43005009 255385008 43994002 367326009 61751001 252157006 255314001 more UMLS 73 C1868595 C1868596 C3489791

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 muscle rigidity, myoclonus and sleep disturbances. An important gene associated with Parkinson Disease 1, Autosomal Dominant is SNCA (Synuclein Alpha). Affiliated tissues include brain, and related phenotypes are urinary urgency and depressivity

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)

Disease Ontology : ¹² A Parkinson's disease that has material basis in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1.

Clinical features from OMIM:

168601

Search NIH Clinical Center for Parkinson Disease 1, Autosomal Dominant

Search GEO for disease gene expression data for Parkinson Disease 1, Autosomal Dominant.