PARK3
MCID: PRK090
MIFTS: 38

Parkinson Disease 3, Autosomal Dominant (PARK3)

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

Aliases & Classifications for Parkinson Disease 3, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 3, Autosomal Dominant:

Name: Parkinson Disease 3, Autosomal Dominant 57
Parkinson Disease 3 57 12 13 70
Park3 57 12 20 29
Parkinson Disease 3, Autosomal Dominant Lewy Body 57 70
Parkinson's Disease 3 12 15
Autosomal Dominant Lewy Body Parkinson Disease 3 12
Autosomal Dominant Parkinson Disease 3 12
Parkinson Disease, Autosomal Dominant 54
Autosomal Dominant Parkinson Disease 20
Parkinson Disease, Familial, Type 1 70
Parkinson Disease Type 3 20

Classifications:



External Ids:

Disease Ontology 12 DOID:0111250
OMIM® 57 602404
OMIM Phenotypic Series 57 PS168600
UMLS 70 C1865581 C2931436 C3489791

Summaries for Parkinson Disease 3, Autosomal Dominant

Disease Ontology : 12 A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has material basis in mutation in a locus in the 2p13 chromosome region.

MalaCards based summary : Parkinson Disease 3, Autosomal Dominant, also known as parkinson disease 3, is related to parkinson disease 17 and parkinson disease 1, autosomal dominant. An important gene associated with Parkinson Disease 3, Autosomal Dominant is PARK3 (Parkinson Disease 3 (Autosomal Dominant, Lewy Body)), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Prion disease. Affiliated tissues include brain, and related phenotypes are behavior/neurological and cellular

Wikipedia : 73 Parkinson disease 3 (autosomal dominant, Lewy body) is a protein that in humans is encoded by the PARK3... more...

More information from OMIM: 602404 PS168600

Related Diseases for Parkinson Disease 3, 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 3, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 parkinson disease 17 32.1 SNCA PARK7
2 parkinson disease 1, autosomal dominant 31.4 SNCA PRKN MAPT LRRK2 ATP13A2
3 tremor 30.4 SNCA PRKN LRRK2
4 parkinsonism 29.8 SNCA PARK7 MAPT LRRK2
5 parkinson disease, late-onset 26.8 UCHL1 SPR SNCAIP SNCA PRKN PARK7
6 parkinson disease 4, autosomal dominant 11.2
7 parkinson disease 8, autosomal dominant 11.2
8 parkinson disease 5, autosomal dominant 11.2
9 alzheimer disease 8 10.3 PARK7 LRRK2
10 von economo's disease 10.3 SNCA LRRK2
11 radial nerve lesion 10.2 PRKN LRRK2
12 parkinson disease 21 10.2 PRKN LRRK2
13 ophthalmomyiasis 10.2 PRKN LRRK2
14 chromosome 17q21.31 duplication syndrome 10.2 SNCA MAPT
15 ideomotor apraxia 10.2 SNCA MAPT
16 ulnar nerve lesion 10.2 PRKN LRRK2
17 akinetic mutism 10.2 SNCA MAPT
18 coenzyme q10 deficiency, primary, 1 10.2 SNCA MAPT
19 alzheimer disease 7 10.2 SNCA MAPT
20 arteriolosclerosis 10.2 SNCA MAPT
21 alzheimer disease 9 10.2 SNCA MAPT
22 neuronal intranuclear inclusion disease 10.1 SNCA MAPT
23 gerstmann-straussler disease 10.1 SNCA MAPT LRRK2
24 aphasia 10.1 SNCA MAPT LRRK2
25 hereditary late-onset parkinson disease 10.1 SNCA LRRK2 GIGYF2
26 sleep disorder 10.1 SNCA MAPT LRRK2
27 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.1 SNCA MAPT LRRK2
28 communicating hydrocephalus 10.1 SNCA MAPT
29 leukoencephalopathy, hereditary diffuse, with spheroids 10.1 SNCA PRKN MAPT
30 kuru 10.1 SNCA MAPT
31 cerebellar disease 10.0 SNCA PRKN MAPT
32 parkinson disease 10 10.0 SNCA PRKN PARK7 LRRK2
33 color agnosia 10.0 SNCA PRKN PARK7 LRRK2
34 brain injury 10.0 UCHL1 MAPT
35 dystonia 12 10.0 PRKN PARK7 ATP13A2
36 choreatic disease 10.0 SNCA PRKN ATP13A2
37 restless legs syndrome 10.0 SNCA PRKN MAPT
38 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.0 SNCA PARK7 MAPT LRRK2
39 perry syndrome 10.0 SNCA MAPT
40 rem sleep behavior disorder 10.0 SNCA PRKN MAPT LRRK2
41 multiple system atrophy 1 9.9 SNCA PRKN MAPT LRRK2
42 creutzfeldt-jakob disease 9.9 SNCA PARK7 MAPT
43 nervous system disease 9.9 SNCA PRKN MAPT LRRK2
44 neurodegeneration with brain iron accumulation 1 9.9 SNCA ATP13A2
45 sphingolipidosis 9.9 SNCA PRKN LRRK2 ATP13A2
46 olivopontocerebellar atrophy 9.9 SNCA MAPT
47 juvenile-onset parkinson's disease 9.8 SNCAIP SNCA PRKN ATP13A2
48 postencephalitic parkinson disease 9.8 SNCA PRKN PARK7 MAPT LRRK2
49 toxic encephalopathy 9.8 SNCA PRKN PARK7 MAPT LRRK2
50 autosomal dominant cerebellar ataxia 9.8 SNCA PRKN PARK7 MAPT LRRK2

Graphical network of the top 20 diseases related to Parkinson Disease 3, Autosomal Dominant:



Diseases related to Parkinson Disease 3, Autosomal Dominant

Symptoms & Phenotypes for Parkinson Disease 3, Autosomal Dominant

Clinical features from OMIM®:

602404 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Parkinson Disease 3, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ATP13A2 FBXO7 GIGYF2 HTRA2 LRRK1 LRRK2
2 cellular MP:0005384 9.91 ATP13A2 FBXO7 GIGYF2 HTRA2 LRRK2 MAPT
3 growth/size/body region MP:0005378 9.85 FBXO7 GIGYF2 HTRA2 LRRK1 MAPT PARK7
4 homeostasis/metabolism MP:0005376 9.73 ATP13A2 FBXO7 GIGYF2 HTRA2 LRRK1 LRRK2
5 nervous system MP:0003631 9.32 ATP13A2 GIGYF2 HTRA2 LRRK2 MAPT PARK7

Drugs & Therapeutics for Parkinson Disease 3, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Parkinson Disease 3, Autosomal Dominant

Genetic Tests for Parkinson Disease 3, Autosomal Dominant

Genetic tests related to Parkinson Disease 3, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Park3 29

Anatomical Context for Parkinson Disease 3, Autosomal Dominant

MalaCards organs/tissues related to Parkinson Disease 3, Autosomal Dominant:

40
Brain

Publications for Parkinson Disease 3, Autosomal Dominant

Articles related to Parkinson Disease 3, Autosomal Dominant:

(show top 50) (show all 81)
# Title Authors PMID Year
1
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. 57 61
16443856 2006
2
Genes influencing Parkinson disease onset: replication of PARK3 and identification of novel loci. 61 57
15136695 2004
3
A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. 57 61
14663042 2003
4
PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. 57 61
11920285 2002
5
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. 61 57
11571553 2001
6
Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany. 61 57
10738540 1999
7
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 57
15961413 2005
8
A susceptibility locus for Parkinson's disease maps to chromosome 2p13. 57
9500549 1998
9
Parkinson's disease: progression and mortality in the L-DOPA era. 57
8615142 1996
10
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. 61 54
11914409 2002
11
[The genetics of Parkinson syndrome]. 54 61
11447721 2001
12
Genetic variants in apoptosis-related genes associated with colorectal hyperplasia. 61
24861865 2014
13
Genetic analysis of the FBXO48 gene in Chinese Han patients with Parkinson disease. 61
23485738 2013
14
Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease. 61
21782285 2011
15
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. 54
20197411 2010
16
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 54
19833540 2010
17
Clinical features of LRRK2 parkinsonism. 54
20082991 2009
18
ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease. 61
19319700 2009
19
Lrrk2 phosphorylates alpha synuclein at serine 129: Parkinson disease implications. 54
19576176 2009
20
Genomewide association study for onset age in Parkinson disease. 61
19772629 2009
21
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease. 54
19357115 2009
22
Whole-genome conditional two-locus analysis identifies novel candidate genes for late-onset Parkinson's disease. 54
19156451 2009
23
Leucine-rich repeat kinase 2 mutants I2020T and G2019S exhibit altered kinase inhibitor sensitivity. 54
19397894 2009
24
The silkworm mutant lemon (lemon lethal) is a potential insect model for human sepiapterin reductase deficiency. 61
19246455 2009
25
LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease. 54
18752982 2009
26
Investigation of leucine-rich repeat kinase 2 : enzymological properties and novel assays. 54
19076219 2009
27
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. 54
19139307 2009
28
A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinson's disease patients. 54
18446261 2008
29
GATA transcription factors directly regulate the Parkinson's disease-linked gene alpha-synuclein. 54
18669654 2008
30
Microarray expression analysis reveals genetic pathways implicated in C621 synphilin-1-mediated toxicity. 54
18292964 2008
31
Screening for LRRK2 mutations in patients with Parkinson's disease in Russia: identification of a novel LRRK2 variant. 54
18435766 2008
32
DJ-1 modulates alpha-synuclein aggregation state in a cellular model of oxidative stress: relevance for Parkinson's disease and involvement of HSP70. 54
18382667 2008
33
Parkinson's disease: a genetic perspective. 54
18279377 2008
34
A brain-specific decrease of the tyrosine hydroxylase protein in sepiapterin reductase-null mice--as a mouse model for Parkinson's disease. 61
18201550 2008
35
A Drosophila model for LRRK2-linked parkinsonism. 54
18258746 2008
36
Early detection of Parkinson's disease: unmet needs. 54
18322371 2008
37
The Parkinson's disease-associated protein, leucine-rich repeat kinase 2 (LRRK2), is an authentic GTPase that stimulates kinase activity. 54
17706965 2007
38
LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease. 54
17440812 2007
39
[Pathology of familial Parkinson's disease]. 61
17713121 2007
40
Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1. 54
17394548 2007
41
MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease. 54
17385669 2007
42
Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease. 54
17335904 2007
43
Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease. 54
17225181 2007
44
Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease. 54
17034008 2007
45
Sepiapterin reductase expression is increased in Parkinson's disease brain tissue. 61
17270157 2007
46
Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants. 54
17222106 2007
47
Localization of LRRK2 to membranous and vesicular structures in mammalian brain. 54
17120249 2006
48
Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease. 54
16758483 2006
49
The role of protein aggregates in neuronal pathology: guilty, innocent, or just trying to help? 54
17017517 2006
50
Analysis of LRRK 2 G 2019 S and I 2020 T mutations in Parkinson's disease. 54
16115731 2005

Variations for Parkinson Disease 3, Autosomal Dominant

Expression for Parkinson Disease 3, Autosomal Dominant

Search GEO for disease gene expression data for Parkinson Disease 3, Autosomal Dominant.

Pathways for Parkinson Disease 3, Autosomal Dominant

Pathways related to Parkinson Disease 3, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 UCHL1 SNCAIP SNCA PRKN PARK7 MAPT
2
Show member pathways
12.48 UCHL1 SNCAIP SNCA PRKN PARK7 MAPT
3
Show member pathways
12.41 UCHL1 SNCAIP SNCA PRKN PARK7 HTRA2
4 12.09 UCHL1 SNCA PRKN PARK7 MAPT LRRK2
5
Show member pathways
11.74 SNCAIP SNCA PRKN
6 11.09 UCHL1 SNCAIP SNCA PRKN PARK7 LRRK2
7 11.06 UCHL1 SNCA PRKN PARK7

GO Terms for Parkinson Disease 3, Autosomal Dominant

Cellular components related to Parkinson Disease 3, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.22 UCHL1 SPR SNCAIP SNCA PRKN PARK7
2 endoplasmic reticulum GO:0005783 9.97 UCHL1 PRKN PARK7 LRRK2 HTRA2 GIGYF2
3 mitochondrion GO:0005739 9.76 SNCA PRKN PARK7 MAPT LRRK2 LRRK1
4 cytosol GO:0005829 9.73 UCHL1 SPR SNCAIP SNCA PRKN PARK7
5 neuron projection GO:0043005 9.72 PRKN PARK7 MAPT LRRK2 ATP13A2
6 presynapse GO:0098793 9.69 SNCA PRKN PARK7
7 axon GO:0030424 9.65 UCHL1 SNCA PARK7 MAPT LRRK2
8 growth cone GO:0030426 9.63 SNCA MAPT LRRK2
9 synaptic vesicle GO:0008021 9.58 SNCAIP SNCA LRRK2
10 mitochondrial intermembrane space GO:0005758 9.54 SNCA PARK7 HTRA2
11 inclusion body GO:0016234 9.43 SNCA LRRK2
12 neuronal cell body GO:0043025 9.1 UCHL1 SNCAIP SNCA MAPT LRRK2 ATP13A2

Biological processes related to Parkinson Disease 3, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.88 SNCAIP SNCA PRKN GIGYF2
2 autophagy GO:0006914 9.86 PRKN PARK7 LRRK2 ATP13A2
3 negative regulation of neuron apoptotic process GO:0043524 9.84 SNCA PRKN PARK7
4 mitochondrion organization GO:0007005 9.83 PRKN PARK7 LRRK2 HTRA2
5 regulation of protein stability GO:0031647 9.81 PRKN LRRK2 FBXO7
6 regulation of autophagy GO:0010506 9.78 PRKN MAPT LRRK2
7 negative regulation of cell death GO:0060548 9.77 PRKN PARK7 HTRA2
8 negative regulation of protein phosphorylation GO:0001933 9.76 SNCA PRKN PARK7 LRRK2
9 regulation of canonical Wnt signaling pathway GO:0060828 9.69 PRKN LRRK2
10 regulation of neurotransmitter secretion GO:0046928 9.69 SNCAIP SNCA PRKN
11 microglial cell activation GO:0001774 9.68 SNCA MAPT
12 regulation of mitochondrial membrane potential GO:0051881 9.68 PRKN PARK7
13 regulation of dopamine secretion GO:0014059 9.68 SNCA PRKN
14 adult walking behavior GO:0007628 9.68 UCHL1 HTRA2
15 regulation of reactive oxygen species metabolic process GO:2000377 9.67 SNCA PRKN
16 regulation of neuron death GO:1901214 9.67 SNCA LRRK2
17 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.67 PRKN PARK7 LRRK2
18 regulation of mitochondrion organization GO:0010821 9.66 PRKN ATP13A2
19 cellular protein catabolic process GO:0044257 9.66 PRKN HTRA2
20 regulation of autophagy of mitochondrion GO:1903146 9.65 HTRA2 ATP13A2
21 cellular response to dopamine GO:1903351 9.65 PRKN LRRK2
22 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.65 PARK7 LRRK2
23 dopamine metabolic process GO:0042417 9.65 SNCAIP SNCA PRKN
24 negative regulation of oxidative stress-induced neuron death GO:1903204 9.64 PARK7 FBXO7
25 supramolecular fiber organization GO:0097435 9.64 SNCA MAPT
26 negative regulation of oxidative stress-induced cell death GO:1903202 9.63 PRKN PARK7
27 axonal transport of mitochondrion GO:0019896 9.62 UCHL1 MAPT
28 regulation of mitochondrial fission GO:0090140 9.62 MAPT LRRK2
29 intracellular distribution of mitochondria GO:0048312 9.61 MAPT LRRK2
30 synaptic transmission, dopaminergic GO:0001963 9.61 SNCA PRKN PARK7
31 protein localization to mitochondrion GO:0070585 9.59 PRKN LRRK2
32 negative regulation of hydrogen peroxide-induced neuron death GO:1903208 9.58 PARK7 FBXO7
33 cellular response to manganese ion GO:0071287 9.58 PRKN LRRK2 ATP13A2
34 zinc ion homeostasis GO:0055069 9.57 PRKN ATP13A2
35 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.55 PRKN PARK7
36 cellular response to oxidative stress GO:0034599 9.55 SNCA PARK7 LRRK2 HTRA2 ATP13A2
37 regulation of synaptic vesicle transport GO:1902803 9.54 PRKN LRRK2
38 regulation of locomotion GO:0040012 9.54 SNCA LRRK2 FBXO7
39 positive regulation of autophagy of mitochondrion GO:1903599 9.5 PRKN PARK7 FBXO7
40 dopamine uptake involved in synaptic transmission GO:0051583 9.43 SNCA PRKN PARK7
41 adult locomotory behavior GO:0008344 9.35 SNCA PRKN PARK7 HTRA2 GIGYF2
42 negative regulation of neuron death GO:1901215 9.17 SNCA PRKN PARK7 LRRK2 HTRA2 FBXO7

Molecular functions related to Parkinson Disease 3, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.76 SNCA PRKN PARK7 MAPT
2 actin binding GO:0003779 9.73 SNCA PRKN MAPT LRRK2
3 ubiquitin protein ligase binding GO:0031625 9.67 UCHL1 SNCAIP PRKN FBXO7
4 ubiquitin binding GO:0043130 9.5 UCHL1 PRKN FBXO7
5 ubiquitin-specific protease binding GO:1990381 9.48 PRKN PARK7
6 phospholipase binding GO:0043274 9.4 SNCA PRKN
7 tubulin binding GO:0015631 9.33 PRKN MAPT LRRK2
8 cuprous ion binding GO:1903136 9.26 SNCA PARK7
9 identical protein binding GO:0042802 9.23 SNCAIP SNCA PRKN PARK7 MAPT LRRK2
10 cupric ion binding GO:1903135 8.96 PARK7 ATP13A2

Sources for Parkinson Disease 3, 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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