MCID: PRK085
MIFTS: 31

Parkinson Disease 1, Autosomal Dominant

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Parkinson Disease 1, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 1, Autosomal Dominant:

Name: Parkinson Disease 1, Autosomal Dominant 57 75 73
Parkinson Disease 1 57 29 13 6
Atypical Parkinson Disease 75 73
Park1 57 75
Parkinson Disease 1, Autosomal Dominant Lewy Body 57
Autosomal Dominant Parkinson's Disease 1 12
Autosomal Dominant Parkinson Disease 1 12
Parkinson Disease Autosomal Dominant 1 75
Parkinson Disease, Familial, Type 1 73
Parkinson Disease Familial Type 1 75
Parkinson Disease, Type 1 40
Lewy Body Parkinsonism 75

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:



Summaries for Parkinson Disease 1, Autosomal Dominant

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.

Related Diseases for Parkinson Disease 1, Autosomal Dominant

Graphical network of the top 20 diseases related to Parkinson Disease 1, Autosomal Dominant:



Diseases related to Parkinson Disease 1, Autosomal Dominant

Symptoms & Phenotypes for Parkinson Disease 1, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
myoclonus
dystonia
rigidity
bradykinesia
more
Genitourinary Bladder:
urinary urgency

Head And Neck Face:
masked facies

Abdomen Gastrointestinal:
dysphagia

Neurologic Behavioral Psychiatric Manifestations:
depression


Clinical features from OMIM:

168601

Human phenotypes related to Parkinson Disease 1, Autosomal Dominant:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 urinary urgency 32 HP:0000012
2 depressivity 32 HP:0000716
3 dysarthria 32 HP:0001260
4 mental deterioration 32 HP:0001268
5 parkinsonism 32 HP:0001300
6 dystonia 32 HP:0001332
7 myoclonus 32 HP:0001336
8 dysphagia 32 HP:0002015
9 rigidity 32 HP:0002063
10 bradykinesia 32 HP:0002067
11 postural instability 32 HP:0002172
12 resting tremor 32 HP:0002322
13 sleep disturbance 32 HP:0002360
14 shuffling gait 32 HP:0002362
15 hypokinesia 32 HP:0002375

UMLS symptoms related to Parkinson Disease 1, Autosomal Dominant:


muscle rigidity, myoclonus, sleep disturbances, urgency of micturition, bradykinesia, resting tremor

Drugs & Therapeutics for Parkinson Disease 1, Autosomal Dominant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study to Investigate the Safety, Tolerability and Pharmacokinetics of AZD1386 Completed NCT00690079 Phase 1 AZD1386;Placebo

Search NIH Clinical Center for Parkinson Disease 1, Autosomal Dominant

Genetic Tests for Parkinson Disease 1, Autosomal Dominant

Genetic tests related to Parkinson Disease 1, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Parkinson Disease 1 29 SNCA

Anatomical Context for Parkinson Disease 1, Autosomal Dominant

MalaCards organs/tissues related to Parkinson Disease 1, Autosomal Dominant:

41
Brain

Publications for Parkinson Disease 1, Autosomal Dominant

Articles related to Parkinson Disease 1, Autosomal Dominant:

# Title Authors Year
1
Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by I+-synuclein triplication (Iowa kindred). ( 21656851 )
2011
2
Mitochondrial NADH dehydrogenase and CYP2D6 genotypes in Lewy-body parkinsonism. ( 8723226 )
1996
3
Hereditary Lewy-body parkinsonism and evidence for a genetic etiology of Parkinson's disease. ( 1341965 )
1992

Variations for Parkinson Disease 1, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 1, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 SNCA p.Ala53Thr VAR_007454 rs104893877
2 SNCA p.Ala30Pro VAR_007957 rs104893878
3 SNCA p.Glu46Lys VAR_022703 rs104893875
4 SNCA p.His50Gln VAR_070171 rs201106962

ClinVar genetic disease variations for Parkinson Disease 1, Autosomal Dominant:

6
(show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 SNCA NM_000345.3(SNCA): c.157G> A (p.Ala53Thr) single nucleotide variant Pathogenic rs104893877 GRCh37 Chromosome 4, 90749300: 90749300
2 SNCA NM_000345.3(SNCA): c.157G> A (p.Ala53Thr) single nucleotide variant Pathogenic rs104893877 GRCh38 Chromosome 4, 89828149: 89828149
3 SNCA NM_000345.3(SNCA): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs104893878 GRCh37 Chromosome 4, 90756731: 90756731
4 SNCA NM_000345.3(SNCA): c.88G> C (p.Ala30Pro) single nucleotide variant Pathogenic rs104893878 GRCh38 Chromosome 4, 89835580: 89835580
5 SNCA SNCA, DUPLICATION duplication Pathogenic
6 SNCA NM_000345.3(SNCA): c.152G> A (p.Gly51Asp) single nucleotide variant Pathogenic rs431905511 GRCh37 Chromosome 4, 90749305: 90749305
7 SNCA NM_000345.3(SNCA): c.152G> A (p.Gly51Asp) single nucleotide variant Pathogenic rs431905511 GRCh38 Chromosome 4, 89828154: 89828154
8 SNCA NM_000345.3(SNCA): c.150T> G (p.His50Gln) single nucleotide variant Uncertain significance rs201106962 GRCh37 Chromosome 4, 90749307: 90749307
9 SNCA NM_000345.3(SNCA): c.150T> G (p.His50Gln) single nucleotide variant Uncertain significance rs201106962 GRCh38 Chromosome 4, 89828156: 89828156
10 SNCA NM_000345.3(SNCA): c.408C> T (p.Tyr136=) single nucleotide variant Benign/Likely benign rs76642636 GRCh38 Chromosome 4, 89726643: 89726643
11 SNCA NM_000345.3(SNCA): c.408C> T (p.Tyr136=) single nucleotide variant Benign/Likely benign rs76642636 GRCh37 Chromosome 4, 90647794: 90647794
12 SNCA NC_000004.12: g.(?_89726164)_(89835687_?)dup duplication Pathogenic GRCh38 Chromosome 4, 89726164: 89835687
13 SNCA NC_000004.12: g.(?_89726164)_(89835687_?)dup duplication Pathogenic GRCh37 Chromosome 4, 90647315: 90756838

Expression for Parkinson Disease 1, Autosomal Dominant

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

Pathways for Parkinson Disease 1, Autosomal Dominant

GO Terms for Parkinson Disease 1, Autosomal Dominant

Sources for Parkinson Disease 1, Autosomal Dominant

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74 UMLS via Orphanet
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