PARK3
MCID: PRK090
MIFTS: 38

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 58
Parkinson Disease 3 58 30 13 74
Parkinson Disease 3, Autosomal Dominant Lewy Body 58 74
Park3 58 54
Parkinson Disease, Autosomal Dominant 56
Autosomal Dominant Parkinson Disease 54
Parkinson Disease, Familial, Type 1 74
Parkinson Disease Type 3 54

Classifications:



External Ids:

OMIM 58 602404

Summaries for Parkinson Disease 3, Autosomal Dominant

MalaCards based summary : Parkinson Disease 3, Autosomal Dominant, also known as parkinson disease 3, is related to hereditary late-onset parkinson disease and parkinson disease, late-onset. 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 Cabergoline and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotype is behavior/neurological.

Description from OMIM: 602404

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
Lrrk2-Related Parkinson Disease Vps35-Related Parkinson 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 36)
# Related Disease Score Top Affiliating Genes
1 hereditary late-onset parkinson disease 32.1 LRRK2 SNCA
2 parkinson disease, late-onset 28.0 LRRK1 LRRK2 MAPT PARK7 PRKN SNCA
3 parkinson disease 1, autosomal dominant 11.5
4 parkinson disease 8, autosomal dominant 11.5
5 parkinson disease 22, autosomal dominant 11.5
6 parkinson disease 4, autosomal dominant 11.4
7 parkinson disease 11, autosomal dominant 11.4
8 parkinson disease 5, autosomal dominant 11.4
9 parkinson disease 18, autosomal dominant 11.4
10 parkinson disease 13, autosomal dominant 11.2
11 parkinson disease 17 11.2
12 cone-rod dystrophy and hearing loss 2 11.1
13 rem sleep behavior disorder 10.1 LRRK2 SNCA
14 primary lateral sclerosis, adult, 1 10.1 MAPT SNCA
15 corticobasal degeneration 10.0 LRRK2 MAPT
16 neuronal intranuclear inclusion disease 10.0 MAPT SNCA
17 aphasia 9.9 MAPT SNCA
18 pick disease of brain 9.9 MAPT SNCA
19 postencephalitic parkinson disease 9.9 LRRK2 MAPT SNCA
20 parkinson disease 15, autosomal recessive early-onset 9.9 PRKN SNCA
21 frontotemporal dementia 9.8 LRRK2 MAPT SNCA
22 leprosy 3 9.8 LRRK2 PRKN
23 leukoencephalopathy, hereditary diffuse, with spheroids 9.7 MAPT SNCA
24 essential tremor 9.7 LRRK2 PRKN SNCA
25 gaucher's disease 9.7 PRKN SNCA
26 multiple system atrophy 1 9.4 LRRK2 MAPT PRKN SNCA
27 tremor 9.4 LRRK2 MAPT PRKN SNCA
28 central nervous system disease 9.4 LRRK2 MAPT PRKN SNCA
29 parkinson disease 10 9.4 LRRK2 PARK7 PRKN SNCA
30 early-onset parkinson's disease 9.4 LRRK2 PARK7 PRKN SNCA
31 parkinson disease 2, autosomal recessive juvenile 9.4 LRRK2 PARK7 PRKN SNCA
32 supranuclear palsy, progressive, 1 9.1 LRRK2 MAPT PARK7 PRKN SNCA
33 movement disease 9.1 LRRK2 MAPT PARK7 PRKN SNCA
34 nervous system disease 9.1 LRRK2 MAPT PARK7 PRKN SNCA
35 dementia 8.8 LRRK2 MAPT PARK7 PRKN SNCA SNCAIP
36 dementia, lewy body 8.8 LRRK2 MAPT PARK7 PRKN SNCA SNCAIP

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:

47
# 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 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cabergoline Approved 81409-90-7 54746
2
Dopamine Approved 62-31-7, 51-61-6 681
3 Neurotransmitter Agents
4 Dopamine Agents
5 Antiparkinson Agents
6 Dopamine agonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study On Utilization Of Cabergoline For Compliance With Risk Minimization Activities (SUCRE) Completed NCT01270711 Study Drug

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 30

Anatomical Context for Parkinson Disease 3, Autosomal Dominant

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

42
Brain

Publications for Parkinson Disease 3, Autosomal Dominant

Articles related to Parkinson Disease 3, Autosomal Dominant:

# Title Authors Year
1
Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease. ( 15184637 )
2004

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 16)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.7 LRRK2 PARK7 SNCA
2 membrane raft GO:0045121 9.63 LRRK2 MAPT PARK7
3 growth cone GO:0030426 9.58 LRRK2 MAPT SNCA
4 mitochondrial intermembrane space GO:0005758 9.56 PARK7 SNCA
5 neuron projection GO:0043005 9.56 LRRK2 MAPT PARK7 PRKN
6 synaptic vesicle membrane GO:0030672 9.55 LRRK2 SNCA
7 cytoplasmic ribonucleoprotein granule GO:0036464 9.54 MAPT SNCAIP
8 synaptic vesicle GO:0008021 9.54 LRRK2 SNCA SNCAIP
9 mitochondrial respiratory chain complex I GO:0005747 9.51 PARK7 SNCA
10 presynapse GO:0098793 9.5 PARK7 PRKN SNCA
11 terminal bouton GO:0043195 9.49 LRRK2 SNCA
12 neuronal cell body GO:0043025 9.46 LRRK2 MAPT SNCA SNCAIP
13 inclusion body GO:0016234 9.43 LRRK2 SNCA
14 axon GO:0030424 9.26 LRRK2 MAPT PARK7 SNCA
15 mitochondrion GO:0005739 9.1 LRRK1 LRRK2 MAPT PARK7 PRKN SNCA
16 cytosol GO:0005829 10.02 LRRK1 LRRK2 MAPT PARK7 PRKN SNCA

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

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 MAPT PARK7 PRKN SNCA
2 microtubule binding GO:0008017 9.61 LRRK2 MAPT SNCA
3 actin binding GO:0003779 9.56 LRRK2 MAPT PRKN SNCA
4 copper ion binding GO:0005507 9.48 PARK7 SNCA
5 Hsp70 protein binding GO:0030544 9.46 PRKN SNCA
6 ubiquitin-specific protease binding GO:1990381 9.4 PARK7 PRKN
7 phospholipase binding GO:0043274 9.37 PRKN SNCA
8 identical protein binding GO:0042802 9.17 LRRK1 LRRK2 MAPT PARK7 PRKN SNCA
9 cuprous ion binding GO:1903136 9.16 PARK7 SNCA
10 tubulin binding GO:0015631 9.13 LRRK2 MAPT PRKN

Sources for Parkinson Disease 3, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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