MCID: PRK090
MIFTS: 38

Parkinson Disease 3, Autosomal Dominant

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Mental diseases, Metabolic 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 29 13 73
Parkinson Disease 3, Autosomal Dominant Lewy Body 57 73
Park3 57 53
Parkinson Disease, Autosomal Dominant 55
Autosomal Dominant Parkinson Disease 53
Parkinson Disease, Familial, Type 1 73
Parkinson Disease Type 3 53

Classifications:



External Ids:

OMIM 57 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 parkinson disease, late-onset and parkinson disease 8, 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 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. Related phenotype is behavior/neurological.

Wikipedia : 76 Parkinson disease 3 (autosomal dominant, Lewy body) is a protein that in humans is encoded by the PARK3... more...

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 parkinson disease, late-onset 25.3 LRRK1 LRRK2 MAPT PARK7 PRKN SNCA
2 parkinson disease 8, autosomal dominant 11.3
3 parkinson disease 4, autosomal dominant 11.2
4 parkinson disease 11, autosomal dominant 11.2
5 parkinson disease 5, autosomal dominant 11.2
6 parkinson disease 22, autosomal dominant 11.2
7 parkinson disease 1, autosomal dominant 11.0
8 parkinson disease 13, autosomal dominant 11.0
9 parkinson disease 17 11.0
10 parkinson disease 18, autosomal dominant 11.0
11 hereditary late-onset parkinson disease 10.3 LRRK2 SNCA
12 rem sleep behavior disorder 10.2 LRRK2 SNCA
13 aging 10.1
14 dysautonomia 10.1 SNCA SNCAIP
15 leukoencephalopathy, hereditary diffuse, with spheroids 10.0 MAPT SNCA
16 neuronal intranuclear inclusion disease 10.0 MAPT SNCA
17 corticobasal degeneration 10.0 LRRK2 MAPT
18 niemann-pick disease, type c1 9.8 MAPT SNCA
19 postencephalitic parkinson disease 9.7 LRRK2 MAPT SNCA
20 aphasia 9.7 LRRK2 MAPT SNCA
21 frontotemporal dementia 9.7 LRRK2 MAPT SNCA
22 pick disease of brain 9.5 MAPT SNCA
23 leprosy 3 9.4 LRRK2 PRKN
24 essential tremor 9.3 LRRK2 PRKN SNCA
25 tremor 8.8 LRRK2 MAPT PRKN SNCA
26 multiple system atrophy 1 8.8 LRRK2 MAPT PRKN SNCA
27 parkinson disease 10 8.7 LRRK2 PARK7 PRKN SNCA
28 parkinson disease 2, autosomal recessive juvenile 8.7 LRRK2 PARK7 PRKN SNCA
29 early-onset parkinson's disease 8.7 LRRK2 PARK7 PRKN SNCA
30 supranuclear palsy, progressive, 1 8.1 LRRK2 MAPT PARK7 PRKN SNCA
31 movement disease 8.1 LRRK2 MAPT PARK7 PRKN SNCA
32 central nervous system disease 8.1 LRRK2 MAPT PARK7 PRKN SNCA
33 nervous system disease 8.0 LRRK2 MAPT PARK7 PRKN SNCA
34 synucleinopathy 7.5 LRRK2 MAPT PARK7 PRKN SNCA SNCAIP
35 dementia, lewy body 7.5 LRRK2 MAPT PARK7 PRKN SNCA SNCAIP
36 dementia 7.5 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:

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

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 51-61-6, 62-31-7 681
3 Antiparkinson Agents
4 Dopamine Agents
5 Dopamine agonists
6 Neurotransmitter Agents

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 29

Anatomical Context for Parkinson Disease 3, Autosomal Dominant

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 13)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.98 LRRK1 LRRK2 MAPT PARK7 PRKN SNCA
2 mitochondrial matrix GO:0005759 9.65 LRRK2 PARK7 SNCA
3 neuron projection GO:0043005 9.56 LRRK2 MAPT PARK7 PRKN
4 growth cone GO:0030426 9.54 LRRK2 MAPT SNCA
5 cytoplasmic ribonucleoprotein granule GO:0036464 9.52 MAPT SNCAIP
6 terminal bouton GO:0043195 9.51 LRRK2 SNCA
7 synaptic vesicle GO:0008021 9.5 LRRK2 SNCA SNCAIP
8 postsynapse GO:0098794 9.49 LRRK2 SNCA
9 mitochondrial respiratory chain complex I GO:0005747 9.46 PARK7 SNCA
10 neuronal cell body GO:0043025 9.46 LRRK2 MAPT SNCA SNCAIP
11 inclusion body GO:0016234 9.4 LRRK2 SNCA
12 axon GO:0030424 9.26 LRRK2 MAPT PARK7 SNCA
13 mitochondrion GO:0005739 9.1 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 9.83 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 9.77 LRRK2 PARK7 PRKN
6 cellular response to oxidative stress GO:0034599 9.76 LRRK2 PARK7 SNCA
7 excitatory postsynaptic potential GO:0060079 9.69 LRRK2 SNCA
8 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.68 LRRK2 PRKN
9 negative regulation of cell death GO:0060548 9.68 PARK7 PRKN
10 negative regulation of protein binding GO:0032091 9.68 LRRK2 PARK7
11 positive regulation of protein binding GO:0032092 9.68 LRRK2 PRKN
12 protein destabilization GO:0031648 9.67 PRKN SNCA
13 synapse organization GO:0050808 9.67 MAPT SNCA
14 cellular response to reactive oxygen species GO:0034614 9.67 MAPT PARK7
15 regulation of autophagy GO:0010506 9.67 LRRK2 MAPT PRKN
16 positive regulation of neuron death GO:1901216 9.66 MAPT SNCA
17 regulation of canonical Wnt signaling pathway GO:0060828 9.66 LRRK2 PRKN
18 regulation of mitochondrial membrane potential GO:0051881 9.65 PARK7 PRKN
19 regulation of reactive oxygen species metabolic process GO:2000377 9.64 PRKN SNCA
20 regulation of dopamine secretion GO:0014059 9.64 PRKN SNCA
21 regulation of neuron death GO:1901214 9.63 LRRK2 SNCA
22 adult locomotory behavior GO:0008344 9.63 PARK7 PRKN SNCA
23 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.62 LRRK2 PARK7
24 microglial cell activation GO:0001774 9.62 MAPT SNCA
25 cellular response to dopamine GO:1903351 9.61 LRRK2 PRKN
26 supramolecular fiber organization GO:0097435 9.6 MAPT SNCA
27 intracellular distribution of mitochondria GO:0048312 9.58 LRRK2 MAPT
28 regulation of neurotransmitter secretion GO:0046928 9.58 PRKN SNCA SNCAIP
29 regulation of mitochondrial fission GO:0090140 9.57 LRRK2 MAPT
30 regulation of locomotion GO:0040012 9.56 LRRK2 SNCA
31 positive regulation of autophagy of mitochondrion GO:1903599 9.55 PARK7 PRKN
32 negative regulation of oxidative stress-induced cell death GO:1903202 9.54 PARK7 PRKN
33 synaptic transmission, dopaminergic GO:0001963 9.54 PARK7 PRKN SNCA
34 cellular response to manganese ion GO:0071287 9.52 LRRK2 PRKN
35 protein localization to mitochondrion GO:0070585 9.51 LRRK2 PRKN
36 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.5 LRRK2 PARK7 PRKN
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 actin binding GO:0003779 9.63 LRRK2 MAPT PRKN
2 microtubule binding GO:0008017 9.58 LRRK2 MAPT SNCA
3 enzyme binding GO:0019899 9.56 MAPT PARK7 PRKN SNCA
4 copper ion binding GO:0005507 9.48 PARK7 SNCA
5 Hsp70 protein binding GO:0030544 9.43 PRKN SNCA
6 ubiquitin-specific protease binding GO:1990381 9.37 PARK7 PRKN
7 phospholipase binding GO:0043274 9.32 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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