PARK3
MCID: PRK090
MIFTS: 39

Parkinson Disease 3, Autosomal Dominant (PARK3)

Categories: 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 29 13 72
Park3 57 12 53
Parkinson Disease 3, Autosomal Dominant Lewy Body 57 72
Autosomal Dominant Lewy Body Parkinson Disease 3 12
Autosomal Dominant Parkinson Disease 3 12
Parkinson Disease, Autosomal Dominant 55
Autosomal Dominant Parkinson Disease 53
Parkinson Disease, Familial, Type 1 72
Parkinson Disease Type 3 53
Parkinson's Disease 3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111250
UMLS 72 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 hereditary late-onset parkinson disease and tremor. 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Chks in Checkpoint Regulation. The drugs Dopamine and Pramipexole have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotype is behavior/neurological.

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
Parkinson Disease Type 9 Hereditary Late-Onset Parkinson Disease

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 hereditary late-onset parkinson disease 32.9 SNCA LRRK2
2 tremor 29.1 SNCA PRKN MAPT LRRK2
3 parkinson disease, late-onset 27.2 SNCAIP SNCA PRKN PARK7 MAPT LRRK2
4 parkinson disease 1, autosomal dominant 11.6
5 parkinson disease 8, autosomal dominant 11.6
6 parkinson disease 22, autosomal dominant 11.6
7 parkinson disease 4, autosomal dominant 11.5
8 parkinson disease 11, autosomal dominant 11.5
9 parkinson disease 5, autosomal dominant 11.5
10 parkinson disease 18, autosomal dominant 11.5
11 parkinson disease 13, autosomal dominant 11.3
12 parkinson disease 17 11.3
13 rem sleep behavior disorder 10.2 SNCA LRRK2
14 primary lateral sclerosis, adult, 1 10.1 SNCA MAPT
15 corticobasal degeneration 10.0 MAPT LRRK2
16 neuronal intranuclear inclusion disease 10.0 SNCA MAPT
17 aphasia 9.9 SNCA MAPT
18 pick disease of brain 9.9 SNCA MAPT
19 postencephalitic parkinson disease 9.8 SNCA MAPT LRRK2
20 parkinson disease 15, autosomal recessive early-onset 9.8 SNCA PRKN
21 frontotemporal dementia 9.7 SNCA MAPT LRRK2
22 leprosy 3 9.7 PRKN LRRK2
23 leukoencephalopathy, hereditary diffuse, with spheroids 9.6 SNCA MAPT
24 essential tremor 9.5 SNCA PRKN LRRK2
25 gaucher's disease 9.5 SNCA PRKN
26 multiple system atrophy 1 9.0 SNCA PRKN MAPT LRRK2
27 central nervous system disease 9.0 SNCA PRKN MAPT LRRK2
28 parkinson disease 10 9.0 SNCA PRKN PARK7 LRRK2
29 early-onset parkinson's disease 9.0 SNCA PRKN PARK7 LRRK2
30 parkinson disease 2, autosomal recessive juvenile 8.9 SNCA PRKN PARK7 LRRK2
31 supranuclear palsy, progressive, 1 8.5 SNCA PRKN PARK7 MAPT LRRK2
32 movement disease 8.5 SNCA PRKN PARK7 MAPT LRRK2
33 nervous system disease 8.5 SNCA PRKN PARK7 MAPT LRRK2
34 dementia, lewy body 8.0 SNCAIP SNCA PRKN PARK7 MAPT LRRK2
35 dementia 8.0 SNCAIP 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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.1 LRRK1 LRRK2 MAPT PARK7 PRKN SNCA

Drugs & Therapeutics for Parkinson Disease 3, Autosomal Dominant

Drugs for Parkinson Disease 3, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
3 Neurotransmitter Agents Phase 4
4 Dopamine Agents Phase 4
5 Dopamine agonists Phase 4
6 Sympathomimetics Phase 4
7 Cardiotonic Agents Phase 4
8 Peripheral Nervous System Agents Phase 4
9 Protective Agents Phase 4
10 Autonomic Agents Phase 4
11
Cabergoline Approved 81409-90-7 54746
12
tannic acid Approved 1401-55-4
13
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
14 Antiparkinson Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Behavioural Addictions Occurring During a Dopaminergic Treatment Prescribe Under Parkinson's Disease: Study of the Psychopathological, Neurological, Pharmacokinetic and Genetic Profiles. Completed NCT01733199 Phase 4
2 Study on Utilization Of Cabergoline For Compliance With Risk Minimization Activities (SUCRE) Completed NCT01270711 Study Drug
3 The Effect of Whole Body Vibration on Sensorimotor Function in Individuals With Parkinson's Disease Recruiting NCT03777501

Search 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 Parkinson Disease 3 29

Anatomical Context for Parkinson Disease 3, Autosomal Dominant

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

41
Brain

Publications for Parkinson Disease 3, Autosomal Dominant

Articles related to Parkinson Disease 3, Autosomal Dominant:

(show top 50) (show all 71)
# Title Authors PMID Year
1
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 71
23279440 2013
2
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. 8
16443856 2006
3
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 8
15961413 2005
4
Parkinson Disease Overview 71
20301402 2004
5
Genes influencing Parkinson disease onset: replication of PARK3 and identification of novel loci. 8
15136695 2004
6
A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. 8
14663042 2003
7
PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. 8
11920285 2002
8
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. 8
11571553 2001
9
Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany. 8
10738540 1999
10
A susceptibility locus for Parkinson's disease maps to chromosome 2p13. 8
9500549 1998
11
Parkinson's disease: progression and mortality in the L-DOPA era. 8
8615142 1996
12
[Violence in the caregiver-patient dyad in Parkinson disease: 3 measurement methods]. 38
21829882 2011
13
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. 9
20197411 2010
14
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 9
19833540 2010
15
Clinical features of LRRK2 parkinsonism. 9
20082991 2009
16
Lrrk2 phosphorylates alpha synuclein at serine 129: Parkinson disease implications. 9
19576176 2009
17
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease. 9
19357115 2009
18
Whole-genome conditional two-locus analysis identifies novel candidate genes for late-onset Parkinson's disease. 9
19156451 2009
19
Leucine-rich repeat kinase 2 mutants I2020T and G2019S exhibit altered kinase inhibitor sensitivity. 9
19397894 2009
20
LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease. 9
18752982 2009
21
Investigation of leucine-rich repeat kinase 2 : enzymological properties and novel assays. 9
19076219 2009
22
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. 9
19139307 2009
23
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. 38
18852351 2008
24
GATA transcription factors directly regulate the Parkinson's disease-linked gene alpha-synuclein. 9
18669654 2008
25
A comprehensive genetic study of the proteasomal subunit S6 ATPase in German Parkinson's disease patients. 9
18446261 2008
26
Microarray expression analysis reveals genetic pathways implicated in C621 synphilin-1-mediated toxicity. 9
18292964 2008
27
Screening for LRRK2 mutations in patients with Parkinson's disease in Russia: identification of a novel LRRK2 variant. 9
18435766 2008
28
Parkinson's disease: a genetic perspective. 9
18279377 2008
29
DJ-1 modulates alpha-synuclein aggregation state in a cellular model of oxidative stress: relevance for Parkinson's disease and involvement of HSP70. 9
18382667 2008
30
A Drosophila model for LRRK2-linked parkinsonism. 9
18258746 2008
31
Early detection of Parkinson's disease: unmet needs. 9
18322371 2008
32
LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease. 9
17440812 2007
33
The Parkinson's disease-associated protein, leucine-rich repeat kinase 2 (LRRK2), is an authentic GTPase that stimulates kinase activity. 9
17706965 2007
34
Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1. 9
17394548 2007
35
MAPK-pathway activity, Lrrk2 G2019S, and Parkinson's disease. 9
17385669 2007
36
Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease. 9
17335904 2007
37
Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease. 9
17225181 2007
38
Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease. 9
17034008 2007
39
Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants. 9
17222106 2007
40
Localization of LRRK2 to membranous and vesicular structures in mammalian brain. 9
17120249 2006
41
Frequency-dependent reciprocal modulation of verbal fluency and motor functions in subthalamic deep brain stimulation. 38
16966504 2006
42
Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease. 9
16758483 2006
43
The role of protein aggregates in neuronal pathology: guilty, innocent, or just trying to help? 9
17017517 2006
44
Analysis of LRRK 2 G 2019 S and I 2020 T mutations in Parkinson's disease. 9
16115731 2005
45
Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. 9
16272164 2005
46
The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor. 9
16272257 2005
47
[Pathogenesis of Parkinson's disease: implications from familial Parkinson's disease]. 9
16447757 2005
48
Management of referred deep brain stimulation failures: a retrospective analysis from 2 movement disorders centers. 38
15956104 2005
49
An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. 9
15880653 2005
50
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. 9
15732108 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

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 15)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.69 SNCA PARK7 LRRK2
2 membrane raft GO:0045121 9.63 PARK7 MAPT LRRK2
3 growth cone GO:0030426 9.58 SNCA MAPT LRRK2
4 neuron projection GO:0043005 9.56 PRKN PARK7 MAPT LRRK2
5 synaptic vesicle membrane GO:0030672 9.55 SNCA LRRK2
6 mitochondrial intermembrane space GO:0005758 9.54 SNCA PARK7
7 synaptic vesicle GO:0008021 9.54 SNCAIP SNCA LRRK2
8 cytoplasmic ribonucleoprotein granule GO:0036464 9.52 SNCAIP MAPT
9 presynapse GO:0098793 9.5 SNCA PRKN PARK7
10 terminal bouton GO:0043195 9.49 SNCA LRRK2
11 neuronal cell body GO:0043025 9.46 SNCAIP SNCA MAPT LRRK2
12 inclusion body GO:0016234 9.43 SNCA LRRK2
13 axon GO:0030424 9.26 SNCA PARK7 MAPT LRRK2
14 mitochondrion GO:0005739 9.1 SNCA PRKN PARK7 MAPT LRRK2 LRRK1
15 cytosol GO:0005829 10.02 SNCAIP SNCA PRKN PARK7 MAPT LRRK2

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 negative regulation of gene expression GO:0010629 9.84 PRKN PARK7 MAPT
2 cellular protein metabolic process GO:0044267 9.82 SNCAIP SNCA PRKN
3 autophagy GO:0006914 9.8 PRKN PARK7 LRRK2
4 negative regulation of neuron apoptotic process GO:0043524 9.79 SNCA PRKN PARK7
5 mitochondrion organization GO:0007005 9.74 PRKN PARK7 LRRK2
6 cellular response to oxidative stress GO:0034599 9.72 SNCA PARK7 LRRK2
7 negative regulation of protein binding GO:0032091 9.69 PARK7 LRRK2
8 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.68 PRKN LRRK2
9 negative regulation of cell death GO:0060548 9.68 PRKN PARK7
10 excitatory postsynaptic potential GO:0060079 9.68 SNCA LRRK2
11 positive regulation of protein binding GO:0032092 9.68 PRKN LRRK2
12 synapse organization GO:0050808 9.67 SNCA MAPT
13 protein destabilization GO:0031648 9.67 SNCA PRKN
14 positive regulation of neuron death GO:1901216 9.67 SNCA MAPT
15 regulation of autophagy GO:0010506 9.67 PRKN MAPT LRRK2
16 cellular response to reactive oxygen species GO:0034614 9.66 PARK7 MAPT
17 regulation of canonical Wnt signaling pathway GO:0060828 9.65 PRKN LRRK2
18 regulation of dopamine secretion GO:0014059 9.65 SNCA PRKN
19 regulation of mitochondrial membrane potential GO:0051881 9.65 PRKN PARK7
20 regulation of reactive oxygen species metabolic process GO:2000377 9.64 SNCA PRKN
21 regulation of neuron death GO:1901214 9.63 SNCA LRRK2
22 microglial cell activation GO:0001774 9.63 SNCA MAPT
23 adult locomotory behavior GO:0008344 9.63 SNCA PRKN PARK7
24 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.62 PARK7 LRRK2
25 cellular response to dopamine GO:1903351 9.61 PRKN LRRK2
26 supramolecular fiber organization GO:0097435 9.6 SNCA MAPT
27 regulation of locomotion GO:0040012 9.59 SNCA LRRK2
28 intracellular distribution of mitochondria GO:0048312 9.58 MAPT LRRK2
29 cellular response to manganese ion GO:0071287 9.58 PRKN LRRK2
30 regulation of neurotransmitter secretion GO:0046928 9.58 SNCAIP SNCA PRKN
31 regulation of mitochondrial fission GO:0090140 9.56 MAPT LRRK2
32 protein localization to mitochondrion GO:0070585 9.54 PRKN LRRK2
33 synaptic transmission, dopaminergic GO:0001963 9.54 SNCA PRKN PARK7
34 positive regulation of autophagy of mitochondrion GO:1903599 9.52 PRKN PARK7
35 negative regulation of oxidative stress-induced cell death GO:1903202 9.51 PRKN PARK7
36 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.5 PRKN PARK7 LRRK2
37 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.48 PRKN PARK7
38 negative regulation of protein phosphorylation GO:0001933 9.46 SNCA PRKN PARK7 LRRK2
39 regulation of synaptic vesicle transport GO:1902803 9.43 PRKN LRRK2
40 dopamine metabolic process GO:0042417 9.43 SNCAIP SNCA PRKN
41 negative regulation of neuron death GO:1901215 9.26 SNCA PRKN PARK7 LRRK2
42 dopamine uptake involved in synaptic transmission GO:0051583 8.8 SNCA PRKN PARK7

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 9.62 SNCA PRKN PARK7 MAPT
2 microtubule binding GO:0008017 9.61 SNCA MAPT LRRK2
3 actin binding GO:0003779 9.56 SNCA PRKN MAPT LRRK2
4 copper ion binding GO:0005507 9.48 SNCA PARK7
5 Hsp70 protein binding GO:0030544 9.46 SNCA PRKN
6 ubiquitin-specific protease binding GO:1990381 9.4 PRKN PARK7
7 phospholipase binding GO:0043274 9.37 SNCA PRKN
8 identical protein binding GO:0042802 9.17 SNCAIP SNCA PRKN PARK7 MAPT LRRK2
9 cuprous ion binding GO:1903136 9.16 SNCA PARK7
10 tubulin binding GO:0015631 9.13 PRKN MAPT LRRK2

Sources for Parkinson Disease 3, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....