PARK1
MCID: PRK085
MIFTS: 49

Parkinson Disease 1, Autosomal Dominant (PARK1)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 72 70
Parkinson Disease 1 57 29 13 6
Atypical Parkinson Disease 72 70
Parkinson's Disease 1 12 15
Park1 57 72
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 72
Parkinson Disease, Familial, Type 1 70
Parkinson Disease Familial Type 1 72
Parkinson Disease, Type 1 39
Lewy Body Parkinsonism 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
insidious onset
progressive disorder
onset mid to late adulthood
levodopa-responsive

Inheritance:
autosomal dominant


HPO:

31
parkinson disease 1, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive insidious onset


Classifications:



Summaries for Parkinson Disease 1, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 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 kufor-rakeb syndrome and multiple system atrophy 1, and has symptoms including myoclonus, bradykinesia and resting tremor. An important gene associated with Parkinson Disease 1, Autosomal Dominant is SNCA (Synuclein Alpha), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Prion disease. Affiliated tissues include brain, and related phenotypes are sleep disturbance and depressivity

Disease Ontology : 12 A late onset Parkinson's disease that has material basis in mutation in the alpha-synuclein 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) (Updated 05-Apr-2021)

Related Diseases for Parkinson Disease 1, Autosomal Dominant

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 1, Autosomal Dominant Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12 Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10 Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset
Juvenile-Onset Parkinson's Disease Early-Onset Parkinson's Disease
Vps35-Related Parkinson Disease Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 kufor-rakeb syndrome 31.7 SNCA PRKN LRRK2 GBA ATP13A2
2 multiple system atrophy 1 30.7 SQSTM1 SNCA PRKN MAPT MAP2 LRRK2
3 hereditary late-onset parkinson disease 30.4 SNCA LRRK2 GBA
4 parkinsonism 30.3 SNCA MAPT LRRK2 GBA
5 parkinson disease 3, autosomal dominant 30.1 SNCA PRKN MAPT LRRK2 ATP13A2
6 tremor 30.1 SNCA PRKN LRRK2 GBA
7 mild cognitive impairment 29.8 MAPT CHAT
8 frontotemporal dementia 29.3 SQSTM1 SNCA MAPT LRRK2 GSK3B ATXN2
9 movement disease 28.8 SNCA PRKN MAPT LRRK2 HPRT1 GBA
10 parkinson disease, late-onset 28.7 SQSTM1 SNCA PRKN NEDD4 MAPT MAP2
11 corticobasal degeneration 10.3 MAPT GBA
12 chromosome 17q21.31 duplication syndrome 10.3 SNCA MAPT
13 von economo's disease 10.3 SNCA LRRK2
14 ideomotor apraxia 10.3 SNCA MAPT
15 akinetic mutism 10.3 SNCA MAPT
16 parkinson disease 10 10.3 SNCA PRKN LRRK2
17 color agnosia 10.3 SNCA PRKN LRRK2
18 radial nerve lesion 10.2 PRKN LRRK2
19 juvenile-onset parkinson's disease 10.2 SNCA PRKN ATP13A2
20 parkinson disease 21 10.2 PRKN LRRK2
21 gerstmann-straussler disease 10.2 SNCA MAPT LRRK2
22 coenzyme q10 deficiency, primary, 1 10.2 SNCA MAPT
23 aphasia 10.2 SNCA MAPT LRRK2
24 sleep disorder 10.2 SNCA MAPT LRRK2
25 postencephalitic parkinson disease 10.2 SNCA PRKN MAPT LRRK2
26 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.2 SNCA MAPT LRRK2 GBA
27 parkinson disease 15, autosomal recessive early-onset 10.1 SNCA PRKN LRRK2 ATP13A2
28 vasculogenic impotence 10.1 PDE5A PDE4A
29 neurodegeneration with brain iron accumulation 10.1 SNCA PRKN ATP13A2 ACO1
30 mitochondrial complex i deficiency, nuclear type 1 10.1 SNCA PRKN LRRK2 ATP13A2
31 rem sleep behavior disorder 10.1 SNCA PRKN MAPT LRRK2 GBA
32 choreatic disease 10.1 SNCA PRKN ATXN2 ATP13A2
33 cerebellar disease 10.1 SNCA PRKN MAPT ATXN2
34 essential tremor 10.0 SNCA PRKN MAPT LRRK2 GBA
35 early-onset parkinson's disease 10.0 SNCA PRKN LRRK2 GBA ATP13A2
36 parkinson disease 4, autosomal dominant 10.0
37 gaucher's disease 10.0 SNCA PRKN LRRK2 GBA ATP13A2
38 aneurysmal bone cysts 10.0 MAPT GSK3B
39 gaucher disease, type i 10.0 SNCA PRKN LRRK2 GBA ATP13A2
40 ophthalmomyiasis 10.0 PRKN LRRK2 GSK3B
41 alzheimer disease 9 10.0 SNCA MAPT GSK3B
42 scrapie 10.0 SNCA MAPT MAP2 CHAT
43 alzheimer disease 7 10.0 SNCA MAPT
44 prion disease 10.0 SNCA PRKN MAPT MAP2 LRRK2
45 keratoconus 10.0
46 autosomal dominant cerebellar ataxia 10.0 SNCA PRKN MAPT LRRK2 ATXN2
47 restless legs syndrome 10.0 SNCA PRKN MAPT ATXN2 ACO1
48 peripheral nervous system disease 9.9 SNCA PRKN MAPT LRRK2 CHAT
49 leukoencephalopathy, hereditary diffuse, with spheroids 9.9 SNCA PRKN MAPT MAP2 CHAT
50 dysphagia 9.9

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

Human phenotypes related to Parkinson Disease 1, Autosomal Dominant:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 sleep disturbance 31 HP:0002360
2 depressivity 31 HP:0000716
3 dysarthria 31 HP:0001260
4 dysphagia 31 HP:0002015
5 hallucinations 31 HP:0000738
6 myoclonus 31 HP:0001336
7 mental deterioration 31 HP:0001268
8 dystonia 31 HP:0001332
9 rigidity 31 HP:0002063
10 dementia 31 HP:0000726
11 hypokinesia 31 HP:0002375
12 postural instability 31 HP:0002172
13 urinary urgency 31 HP:0000012
14 parkinsonism 31 HP:0001300
15 bradykinesia 31 HP:0002067
16 gliosis 31 HP:0002171
17 shuffling gait 31 HP:0002362
18 resting tremor 31 HP:0002322
19 lewy bodies 31 HP:0100315
20 micrographia 31 HP:0031908

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
myoclonus
dystonia
rigidity
hypokinesia
more
Genitourinary Bladder:
urinary urgency

Head And Neck Face:
masked facies

Abdomen Gastrointestinal:
dysphagia

Neurologic Behavioral Psychiatric Manifestations:
depression

Clinical features from OMIM®:

168601 (Updated 05-Apr-2021)

UMLS symptoms related to Parkinson Disease 1, Autosomal Dominant:


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

MGI Mouse Phenotypes related to Parkinson Disease 1, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.29 ATP13A2 ATXN2 BECN1 CHAT GBA GSK3B
2 growth/size/body region MP:0005378 10.22 ATXN2 BECN1 CHAT DIO2 GBA GSK3B
3 homeostasis/metabolism MP:0005376 10.21 ACO1 ATP13A2 ATXN2 BECN1 CHAT DIO2
4 cardiovascular system MP:0005385 10.2 ATP13A2 BECN1 CHAT GBA GSK3B HPRT1
5 mortality/aging MP:0010768 10.2 ACO1 ATXN2 BECN1 CHAT GBA GSK3B
6 nervous system MP:0003631 10.16 ATP13A2 ATXN2 BECN1 CHAT GBA GSK3B
7 endocrine/exocrine gland MP:0005379 10.09 ATXN2 BECN1 DIO2 GBA GSK3B HPRT1
8 normal MP:0002873 9.9 ACO1 BECN1 CHAT GBA GSK3B HPRT1
9 skeleton MP:0005390 9.65 BECN1 CHAT DIO2 GBA GSK3B HPRT1
10 taste/olfaction MP:0005394 8.92 HPRT1 MAPT PDE4A SNCA

Drugs & Therapeutics for Parkinson Disease 1, Autosomal Dominant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Differential Diagnosis and Prognosis of Idiopathic and Atypical Parkinson Disease by Using Diffusion MRI Active, not recruiting NCT04472325

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:

40
Brain

Publications for Parkinson Disease 1, Autosomal Dominant

Articles related to Parkinson Disease 1, Autosomal Dominant:

(show top 50) (show all 56)
# Title Authors PMID Year
1
Identification and rescue of α-synuclein toxicity in Parkinson patient-derived neurons. 57 6
24158904 2013
2
Yeast reveal a "druggable" Rsp5/Nedd4 network that ameliorates α-synuclein toxicity in neurons. 6 57
24158909 2013
3
G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. 6 57
23526723 2013
4
A novel α-synuclein missense mutation in Parkinson disease. 6 57
23427326 2013
5
First appraisal of brain pathology owing to A30P mutant alpha-synuclein. 6 57
20437567 2010
6
A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. 57 6
19632874 2009
7
Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease. 57 6
18852449 2008
8
Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease. 57 6
18852448 2008
9
Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. 57 6
17251522 2007
10
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. 6 57
16358335 2006
11
Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. 6 57
14755720 2004
12
Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. 6 57
11261505 2001
13
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. 6 57
9197268 1997
14
Poly(ADP-ribose) drives pathologic α-synuclein neurodegeneration in Parkinson's disease. 57
30385548 2018
15
A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. 6
25003242 2014
16
The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity. 6
24936070 2014
17
Mosaicism of alpha-synuclein gene rearrangements: report of two unrelated cases of early-onset parkinsonism. 6
24552873 2014
18
Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients. 6
23880019 2013
19
Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson disease. 6
20340137 2010
20
Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes. 57
20106867 2010
21
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 6
19833540 2010
22
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. 57
19915576 2009
23
Genome-wide association study reveals genetic risk underlying Parkinson's disease. 57
19915575 2009
24
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. 6
19139307 2009
25
Central role of alpha-synuclein oligomers in neurodegeneration in Parkinson disease. 57
19064744 2008
26
Prominent psychiatric symptoms and glucose hypometabolism in a family with a SNCA duplication. 6
18852445 2008
27
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. 6
18704525 2008
28
Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. 6
18413475 2008
29
Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia. 6
18195271 2008
30
alpha-Synuclein gene duplication is present in sporadic Parkinson disease. 6
17625105 2008
31
The Ala53Thr mutation in the alpha-synuclein gene in a Korean family with Parkinson disease. 6
17489854 2007
32
Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. 6
15451224 2004
33
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. 6
15451225 2004
34
alpha-Synuclein locus triplication causes Parkinson's disease. 6
14593171 2003
35
Impaired dopamine storage resulting from alpha-synuclein mutations may contribute to the pathogenesis of Parkinson's disease. 57
12351575 2002
36
Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein. 57
12062037 2002
37
Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers. 6
11376188 2001
38
Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein. 6
10417297 1999
39
G209A mutation in the alpha-synuclein gene is rare and not associated with sporadic Parkinson's disease. 6
9827625 1998
40
Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). 6
9499430 1998
41
Low frequency of alpha-synuclein mutations in familial Parkinson's disease. 6
9506559 1998
42
Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. 6
9462735 1998
43
Clinical genetic analysis of Parkinson's disease in the Contursi kindred. 57
8957018 1996
44
Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. 57
8895469 1996
45
Kindreds of dominantly inherited Parkinson's disease: keys to the riddle. 57
7668819 1995
46
Autosomal dominant parkinsonism with benign course and typical Lewy-body pathology. 57
8232933 1993
47
A large kindred with autosomal dominant Parkinson's disease. 57
2158268 1990
48
Neurologic Comorbidities Predict Proximal Junctional Failure in Adult Spinal Deformity. 61
30122394 2018
49
Data in support of qPCR primer design and verification in a Pink1 -/- rat model of Parkinson disease. 61
27331115 2016
50
A theory about a role of the hyper direct pathway in pattern expression by the basal ganglia. 61
21096287 2010

Variations for Parkinson Disease 1, Autosomal Dominant

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

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SNCA NM_000345.4(SNCA):c.88G>C (p.Ala30Pro) SNV Pathogenic 14008 rs104893878 GRCh37: 4:90756731-90756731
GRCh38: 4:89835580-89835580
2 SNCA NM_000345.4(SNCA):c.152G>A (p.Gly51Asp) SNV Pathogenic 97000 rs431905511 GRCh37: 4:90749305-90749305
GRCh38: 4:89828154-89828154
3 SNCA NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) SNV Pathogenic 14007 rs104893877 GRCh37: 4:90749300-90749300
GRCh38: 4:89828149-89828149
4 SNCA SNCA, DUPLICATION Duplication Pathogenic 14011 GRCh37:
GRCh38:
5 SNCA NM_000345.4(SNCA):c.157G>A (p.Ala53Thr) SNV Pathogenic 14007 rs104893877 GRCh37: 4:90749300-90749300
GRCh38: 4:89828149-89828149
6 SNCA NC_000004.11:g.(?_90647315)_(90756838_?)dup Duplication Pathogenic 531846 GRCh37: 4:90647315-90756838
GRCh38: 4:89726164-89835687
7 SNCA NC_000004.11:g.(?_90647315)_(90756828_?)dup Duplication Pathogenic 639372 GRCh37: 4:90647315-90756828
GRCh38: 4:89726164-89835677
8 SNCA NM_000345.4(SNCA):c.150T>G (p.His50Gln) SNV Pathogenic 162095 rs201106962 GRCh37: 4:90749307-90749307
GRCh38: 4:89828156-89828156
9 SNCA NM_000345.4(SNCA):c.100A>G (p.Lys34Glu) SNV Uncertain significance 1003636 GRCh37: 4:90756719-90756719
GRCh38: 4:89835568-89835568
10 SNCA NM_000345.4(SNCA):c.150T>G (p.His50Gln) SNV Uncertain significance 162095 rs201106962 GRCh37: 4:90749307-90749307
GRCh38: 4:89828156-89828156
11 SNCA NM_000345.4(SNCA):c.47T>C (p.Val16Ala) SNV Uncertain significance 1009952 GRCh37: 4:90756772-90756772
GRCh38: 4:89835621-89835621
12 SNCA NM_000345.4(SNCA):c.*464C>A SNV Uncertain significance 1020728 GRCh37: 4:90647315-90647315
GRCh38: 4:89726164-89726164
13 SNCA NM_000345.4(SNCA):c.349C>A (p.Pro117Thr) SNV Uncertain significance 652694 rs145138372 GRCh37: 4:90650386-90650386
GRCh38: 4:89729235-89729235
14 SNCA NM_000345.4(SNCA):c.147G>A (p.Val49=) SNV Likely benign 767542 rs141859659 GRCh37: 4:90749310-90749310
GRCh38: 4:89828159-89828159
15 SNCA NM_000345.4(SNCA):c.156G>T (p.Val52=) SNV Likely benign 772345 rs148108612 GRCh37: 4:90749301-90749301
GRCh38: 4:89828150-89828150
16 SNCA NM_000345.4(SNCA):c.216G>A (p.Thr72=) SNV Likely benign 705925 rs144758871 GRCh37: 4:90743487-90743487
GRCh38: 4:89822336-89822336
17 SNCA NM_000345.4(SNCA):c.408C>T (p.Tyr136=) SNV Benign 350104 rs76642636 GRCh37: 4:90647794-90647794
GRCh38: 4:89726643-89726643

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

72
# 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

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

Pathways related to Parkinson Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 SQSTM1 SNCA PRKN MAPT LRRK2 GSK3B
2
Show member pathways
12.52 SNCA PRKN MAPT LRRK2 GSK3B
3 11.7 SNCA PRKN MAPT MAP2 LRRK2 GSK3B
4 11.48 SQSTM1 MAP1LC3B GSK3B BECN1
5 11.38 SQSTM1 PRKN BECN1
6 11.18 SNCA PRKN LRRK2 ATXN2
7
Show member pathways
11.1 SQSTM1 PRKN MAP1LC3B

GO Terms for Parkinson Disease 1, Autosomal Dominant

Cellular components related to Parkinson Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.33 SQSTM1 SNCA PRKN PDE4A NEDD4 MAPT
2 Golgi apparatus GO:0005794 10.01 SNCA PRKN NEDD4 LRRK2 GBA BECN1
3 dendrite GO:0030425 9.93 MAPT MAP2 LRRK2 GSK3B BECN1
4 lysosome GO:0005764 9.92 SQSTM1 SNCA LRRK2 GBA ATP13A2
5 neuronal cell body GO:0043025 9.89 SNCA MAPT MAP2 LRRK2 ATP13A2
6 neuron projection GO:0043005 9.8 PRKN MAPT MAP2 LRRK2 CHAT ATP13A2
7 trans-Golgi network GO:0005802 9.78 LRRK2 GBA BECN1 ATXN2
8 mitochondrion GO:0005739 9.65 SQSTM1 SNCA SDHAF2 PRKN MAPT MAP1LC3B
9 Wnt signalosome GO:1990909 9.56 LRRK2 GSK3B
10 autolysosome GO:0044754 9.55 SQSTM1 LRRK2
11 cytosol GO:0005829 9.55 SQSTM1 SNCA SDHAF2 PRKN PDE5A PDE4A
12 main axon GO:0044304 9.51 MAPT MAP2
13 autophagosome GO:0005776 9.46 SQSTM1 MAP1LC3B BECN1 ATP13A2
14 Lewy body GO:0097413 9.43 SQSTM1 PRKN
15 inclusion body GO:0016234 9.43 SQSTM1 SNCA LRRK2
16 amphisome GO:0044753 9.37 SQSTM1 LRRK2

Biological processes related to Parkinson Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 cellular response to oxidative stress GO:0034599 9.87 SNCA LRRK2 ATP13A2
2 mitochondrion organization GO:0007005 9.86 PRKN LRRK2 GBA
3 negative regulation of protein phosphorylation GO:0001933 9.83 SNCA PRKN LRRK2
4 positive regulation of protein catabolic process GO:0045732 9.83 PRKN NEDD4 GSK3B
5 regulation of autophagy GO:0010506 9.82 PRKN MAPT LRRK2
6 cellular response to starvation GO:0009267 9.82 MAP1LC3B LRRK2 GBA
7 regulation of macroautophagy GO:0016241 9.81 NEDD4 GBA ATP13A2
8 macroautophagy GO:0016236 9.81 SQSTM1 PRKN MAP1LC3B BECN1
9 positive regulation of protein binding GO:0032092 9.8 PRKN LRRK2 GSK3B
10 neuron projection development GO:0031175 9.8 NEDD4 MAPT MAP2 GSK3B GBA
11 positive regulation of autophagy GO:0010508 9.79 LRRK2 GSK3B BECN1
12 excitatory postsynaptic potential GO:0060079 9.78 SNCA LRRK2 GSK3B
13 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.76 PRKN LRRK2 GSK3B GBA
14 lysosome organization GO:0007040 9.74 LRRK2 GBA BECN1
15 positive regulation of neuron death GO:1901216 9.73 SNCA MAPT GSK3B
16 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.7 PRKN LRRK2
17 determination of adult lifespan GO:0008340 9.7 LRRK2 GBA
18 autophagy GO:0006914 9.7 SQSTM1 PRKN MAP1LC3B LRRK2 GBA BECN1
19 negative regulation of autophagosome assembly GO:1902902 9.69 LRRK2 BECN1
20 cellular response to dopamine GO:1903351 9.69 PRKN LRRK2
21 regulation of protein kinase A signaling GO:0010738 9.68 PDE4A LRRK2
22 supramolecular fiber organization GO:0097435 9.68 SNCA MAPT
23 receptor catabolic process GO:0032801 9.68 NEDD4 BECN1
24 negative regulation of microtubule polymerization GO:0031115 9.67 SNCA MAP2
25 regulation of microtubule polymerization GO:0031113 9.67 MAPT MAP2
26 striatum development GO:0021756 9.67 LRRK2 HPRT1
27 regulation of mitochondrion organization GO:0010821 9.67 SQSTM1 PRKN ATP13A2
28 cellular response to nitrogen starvation GO:0006995 9.66 MAP1LC3B BECN1
29 synaptic transmission, dopaminergic GO:0001963 9.66 SNCA PRKN
30 central nervous system neuron development GO:0021954 9.65 MAPT MAP2 HPRT1
31 regulation of mitochondrial fission GO:0090140 9.63 MAPT LRRK2
32 intracellular distribution of mitochondria GO:0048312 9.63 MAPT LRRK2
33 regulation of locomotion GO:0040012 9.62 SNCA LRRK2
34 autophagy of mitochondrion GO:0000422 9.62 SQSTM1 PRKN MAP1LC3B BECN1
35 dopamine metabolic process GO:0042417 9.61 SNCA PRKN HPRT1
36 protein localization to mitochondrion GO:0070585 9.6 PRKN LRRK2
37 response to mitochondrial depolarisation GO:0098780 9.59 SQSTM1 BECN1
38 zinc ion homeostasis GO:0055069 9.58 PRKN ATP13A2
39 dopamine uptake involved in synaptic transmission GO:0051583 9.58 SNCA PRKN
40 regulation of lysosomal protein catabolic process GO:1905165 9.55 GBA ATP13A2
41 autophagosome organization GO:1905037 9.54 GBA ATP13A2
42 cellular response to manganese ion GO:0071287 9.54 PRKN LRRK2 ATP13A2
43 regulation of synaptic vesicle transport GO:1902803 9.52 PRKN LRRK2
44 response to iron(II) ion GO:0010040 9.43 SNCA BECN1 ACO1
45 mitophagy GO:0000423 9.26 SQSTM1 PRKN MAP1LC3B BECN1
46 negative regulation of neuron death GO:1901215 9.1 SNCA PRKN LRRK2 GSK3B GBA ATP13A2

Molecular functions related to Parkinson Disease 1, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.43 SQSTM1 SNCA SDHAF2 PRKN PDE5A PDE4A
2 protein kinase binding GO:0019901 9.77 SQSTM1 PRKN MAPT GSK3B BECN1
3 enzyme binding GO:0019899 9.72 SQSTM1 SNCA PRKN NEDD4 MAPT
4 ubiquitin binding GO:0043130 9.58 SQSTM1 PRKN NEDD4
5 microtubule binding GO:0008017 9.55 SNCA MAPT MAP2 MAP1LC3B LRRK2
6 phospholipase binding GO:0043274 9.48 SNCA PRKN
7 dynactin binding GO:0034452 9.43 MAPT GSK3B
8 tau protein binding GO:0048156 9.43 SNCA MAP2 GSK3B
9 tubulin binding GO:0015631 9.26 PRKN MAPT MAP2 LRRK2
10 ubiquitin protein ligase binding GO:0031625 9.1 SQSTM1 PRKN MAP1LC3B GSK3B DIO2 BECN1

Sources for Parkinson Disease 1, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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