MCID: LRR002
MIFTS: 22

Lrrk2 Parkinson Disease

Aliases & Classifications for Lrrk2 Parkinson Disease

MalaCards integrated aliases for Lrrk2 Parkinson Disease:

Name: Lrrk2 Parkinson Disease 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance of lrrk2 pathogenic variants is age dependent and may vary based on pathogenic variant and population ethnicity (including ancestral background and country of origin [hentati et al 2014]). both marder et al [2015] and lee et al [2017a] employed the kin-cohort method to estimate genotypes of family members whose genotypes were unknown. in these two studies penetrance in jews and non-jews was not statistically different. penetrance in men and women was also not statistically different....

Summaries for Lrrk2 Parkinson Disease

MalaCards based summary : Lrrk2 Parkinson Disease is related to hereditary late-onset parkinson disease and rem sleep behavior disorder. An important gene associated with Lrrk2 Parkinson Disease is LRRK2 (Leucine Rich Repeat Kinase 2), and among its related pathways/superpathways are Neuroscience and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. Affiliated tissues include brain, lung and heart, and related phenotype is no phenotypic analysis.

GeneReviews: NBK1208

Related Diseases for Lrrk2 Parkinson Disease

Diseases related to Lrrk2 Parkinson Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 hereditary late-onset parkinson disease 29.9 SNCA LRRK2
2 rem sleep behavior disorder 29.9 SNCA LRRK2
3 parkinson disease, late-onset 29.2 SNCA PRKN LRRK2
4 tremor 29.1 SNCA PRKN LRRK2
5 parkinson disease 8, autosomal dominant 10.1
6 constipation 10.1
7 mood disorder 10.1
8 sleep disorder 10.1
9 pure autonomic failure 10.1
10 aphasia 9.8 SNCA LRRK2
11 dystonia 12 9.7 SNCA PRKN
12 parkinson disease, mitochondrial 9.6 PRKN LRRK2
13 gaucher's disease 9.6 SNCA PRKN
14 machado-joseph disease 9.6 SNCA PRKN
15 testicular disease 9.6 PRKN LRRK2
16 leprosy 3 9.6 PRKN LRRK2
17 leber optic atrophy 9.6 SNCA PRKN
18 restless legs syndrome 9.5 SNCA PRKN
19 frontotemporal dementia 9.4 SNCA LRRK2
20 motor neuron disease 9.4 SNCA PRKN
21 parkinson disease 10 9.3 SNCA PRKN LRRK2
22 parkinson disease 3, autosomal dominant 9.3 SNCA PRKN LRRK2
23 postencephalitic parkinson disease 9.3 SNCA PRKN LRRK2
24 juvenile-onset parkinson's disease 9.3 SNCA PRKN LRRK2
25 parkinson disease 15, autosomal recessive early-onset 9.3 SNCA PRKN LRRK2
26 kufor-rakeb syndrome 9.3 SNCA PRKN LRRK2
27 parkinson disease 2, autosomal recessive juvenile 9.3 SNCA PRKN LRRK2
28 early-onset parkinson's disease 9.3 SNCA PRKN LRRK2
29 sphingolipidosis 9.3 SNCA PRKN LRRK2
30 multiple system atrophy 1 9.3 SNCA PRKN LRRK2
31 toxic encephalopathy 9.3 SNCA PRKN LRRK2
32 essential tremor 9.3 SNCA PRKN LRRK2
33 supranuclear palsy, progressive, 1 9.3 SNCA PRKN LRRK2
34 movement disease 9.3 SNCA PRKN LRRK2
35 dementia, lewy body 9.3 SNCA PRKN LRRK2
36 dementia 9.3 SNCA PRKN LRRK2
37 neurodegeneration with brain iron accumulation 9.3 SNCA PRKN LRRK2
38 pick disease of brain 9.3 SNCA PRKN LRRK2
39 autosomal dominant cerebellar ataxia 9.2 SNCA PRKN LRRK2
40 mitochondrial complex i deficiency, nuclear type 1 9.2 SNCA PRKN LRRK2
41 amyotrophic lateral sclerosis 1 9.1 SNCA PRKN LRRK2
42 alzheimer disease 9.0 SNCA PRKN LRRK2

Graphical network of the top 20 diseases related to Lrrk2 Parkinson Disease:



Diseases related to Lrrk2 Parkinson Disease

Symptoms & Phenotypes for Lrrk2 Parkinson Disease

MGI Mouse Phenotypes related to Lrrk2 Parkinson Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.8 LRRK2 PRKN SNCA

Drugs & Therapeutics for Lrrk2 Parkinson Disease

Search Clinical Trials , NIH Clinical Center for Lrrk2 Parkinson Disease

Genetic Tests for Lrrk2 Parkinson Disease

Anatomical Context for Lrrk2 Parkinson Disease

MalaCards organs/tissues related to Lrrk2 Parkinson Disease:

40
Brain, Lung, Heart, Kidney, Skin

Publications for Lrrk2 Parkinson Disease

Articles related to Lrrk2 Parkinson Disease:

(show top 50) (show all 141)
# Title Authors PMID Year
1
Cancer outcomes among Parkinson's disease patients with leucine rich repeat kinase 2 mutations, idiopathic Parkinson's disease patients, and nonaffected controls. 24
31348549 2019
2
Carriers of both GBA and LRRK2 mutations, compared to carriers of either, in Parkinson's disease: Risk estimates and genotype-phenotype correlations. 24
30573413 2019
3
Genetic analysis of neurodegenerative diseases in a pathology cohort. 24
30528841 2019
4
Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis. 24
30707228 2019
5
New Era in disease modification in Parkinson's disease: Review of genetically targeted therapeutics. 24
30391183 2019
6
When to Start Levodopa Therapy for Parkinson's Disease. 24
30673551 2019
7
Deep brain stimulation for monogenic Parkinson's disease: a systematic review. 24
30659355 2019
8
Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review. 24
30357936 2018
9
LRRK2 G2019S Parkinson's disease with more benign phenotype than idiopathic. 24
29989150 2018
10
Survival rates among Parkinson's disease patients who carry mutations in the LRRK2 and GBA genes. 24
30288804 2018
11
Treadmill Exercise Improves Motor Function by Suppressing Purkinje Cell Loss in Parkinson Disease Rats. 24
30396264 2018
12
New Frontiers in Parkinson's Disease: From Genetics to the Clinic. 24
30381429 2018
13
Levodopa: A new look at an old friend. 24
29178365 2018
14
Progression in the LRRK2-Asssociated Parkinson Disease Population. 24
29309488 2018
15
LRRK2 p.Ile1371Val Mutation in a Case with Neuropathologically Confirmed Multi-System Atrophy. 24
29480226 2018
16
Genetics of Parkinson disease. 24
29325612 2018
17
Exploring cancer in LRRK2 mutation carriers and idiopathic Parkinson's disease. 24
29568677 2018
18
Investigation of serotonergic Parkinson's disease-related covariance pattern using [11C]-DASB/PET. 24
29946508 2018
19
LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson's disease. 24
28973664 2017
20
Mitochondrial Calcium Dysregulation Contributes to Dendrite Degeneration Mediated by PD/LBD-Associated LRRK2 Mutants. 24
29038245 2017
21
Parkinson's Disease-Associated LRRK2 Hyperactive Kinase Mutant Disrupts Synaptic Vesicle Trafficking in Ventral Midbrain Neurons. 24
29054882 2017
22
Sex differences in LRRK2 G2019S and idiopathic Parkinson's Disease. 24
29159192 2017
23
Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry. 24
28639421 2017
24
LRRK2 Antisense Oligonucleotides Ameliorate α-Synuclein Inclusion Formation in a Parkinson's Disease Mouse Model. 24
28918051 2017
25
Parkinson Disease and Melanoma: Confirming and Reexamining an Association. 24
28688464 2017
26
Parkinson's disease and pregnancy: An updated review. 24
28506531 2017
27
Heart rate variability in leucine-rich repeat kinase 2-associated Parkinson's disease. 24
28071824 2017
28
LRRK2 in peripheral and central nervous system innate immunity: its link to Parkinson's disease. 24
28202666 2017
29
Clinical Features of LRRK2 Carriers with Parkinson's Disease. 24
28353277 2017
30
Molecular Insights and Functional Implication of LRRK2 Dimerization. 24
28353281 2017
31
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study. 24
27692902 2016
32
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot. 24
27111571 2016
33
Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's disease. 24
27091104 2016
34
Structural model of the dimeric Parkinson's protein LRRK2 reveals a compact architecture involving distant interdomain contacts. 24
27357661 2016
35
A scan without evidence is not evidence of absence: Scans without evidence of dopaminergic deficit in a symptomatic leucine-rich repeat kinase 2 mutation carrier. 24
26685774 2016
36
LRRK2 autophosphorylation enhances its GTPase activity. 24
26396237 2016
37
A Personalized Approach to Parkinson's Disease Patients Based on Founder Mutation Analysis. 24
27242656 2016
38
Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases. 24
26824392 2016
39
MDS clinical diagnostic criteria for Parkinson's disease. 24
26474316 2015
40
Greater motor progression in patients with Parkinson disease who carry LRRK2 risk variants. 24
26311745 2015
41
LRRK2 Pathways Leading to Neurodegeneration. 24
26008812 2015
42
LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis. 24
25962553 2015
43
Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium. 24
26062626 2015
44
Cognitive and behavioral symptoms in Parkinson's disease patients with the G2019S and R1441G mutations of the LRRK2 gene. 24
25840672 2015
45
Cognitive profile of LRRK2-related Parkinson's disease. 24
25650144 2015
46
Effect of selective LRRK2 kinase inhibition on nonhuman primate lung. 24
25653221 2015
47
Motor phenotype of LRRK2-associated Parkinson's disease: a Tunisian longitudinal study. 24
25487881 2015
48
Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease. 24
25434972 2015
49
Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease: a pooled analysis. 24
25401981 2015
50
Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease. 24
25401511 2015

Variations for Lrrk2 Parkinson Disease

Expression for Lrrk2 Parkinson Disease

Search GEO for disease gene expression data for Lrrk2 Parkinson Disease.

Pathways for Lrrk2 Parkinson Disease

Pathways related to Lrrk2 Parkinson Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.67 SNCA PRKN LRRK2
2
Show member pathways
11.42 SNCA PRKN
3 10.72 SNCA PRKN LRRK2
4 10.66 SNCA PRKN

GO Terms for Lrrk2 Parkinson Disease

Cellular components related to Lrrk2 Parkinson Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.67 SNCA PRKN LRRK2
2 Golgi apparatus GO:0005794 9.63 SNCA PRKN LRRK2
3 cell GO:0005623 9.61 SNCA PRKN LRRK2
4 mitochondrial outer membrane GO:0005741 9.48 SNCA LRRK2
5 presynapse GO:0098793 9.4 SNCA PRKN
6 growth cone GO:0030426 9.37 SNCA LRRK2
7 synaptic vesicle GO:0008021 9.32 SNCA LRRK2
8 postsynapse GO:0098794 9.26 SNCA LRRK2
9 synaptic vesicle membrane GO:0030672 9.16 SNCA LRRK2
10 terminal bouton GO:0043195 8.96 SNCA LRRK2
11 inclusion body GO:0016234 8.62 SNCA LRRK2

Biological processes related to Lrrk2 Parkinson Disease according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.64 SNCA PRKN
2 autophagy GO:0006914 9.64 PRKN LRRK2
3 negative regulation of neuron apoptotic process GO:0043524 9.63 SNCA PRKN
4 response to oxidative stress GO:0006979 9.63 PRKN LRRK2
5 cellular response to oxidative stress GO:0034599 9.62 SNCA LRRK2
6 mitochondrion organization GO:0007005 9.62 PRKN LRRK2
7 regulation of protein stability GO:0031647 9.61 PRKN LRRK2
8 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.61 PRKN LRRK2
9 regulation of autophagy GO:0010506 9.6 PRKN LRRK2
10 positive regulation of protein binding GO:0032092 9.59 PRKN LRRK2
11 excitatory postsynaptic potential GO:0060079 9.58 SNCA LRRK2
12 adult locomotory behavior GO:0008344 9.58 SNCA PRKN
13 protein destabilization GO:0031648 9.57 SNCA PRKN
14 regulation of dopamine secretion GO:0014059 9.56 SNCA PRKN
15 regulation of canonical Wnt signaling pathway GO:0060828 9.55 PRKN LRRK2
16 regulation of reactive oxygen species metabolic process GO:2000377 9.54 SNCA PRKN
17 regulation of neurotransmitter secretion GO:0046928 9.52 SNCA PRKN
18 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.51 PRKN LRRK2
19 regulation of neuron death GO:1901214 9.49 SNCA LRRK2
20 synaptic transmission, dopaminergic GO:0001963 9.48 SNCA PRKN
21 cellular response to dopamine GO:1903351 9.46 PRKN LRRK2
22 dopamine metabolic process GO:0042417 9.43 SNCA PRKN
23 cellular response to manganese ion GO:0071287 9.4 PRKN LRRK2
24 regulation of locomotion GO:0040012 9.37 SNCA LRRK2
25 protein localization to mitochondrion GO:0070585 9.32 PRKN LRRK2
26 dopamine uptake involved in synaptic transmission GO:0051583 9.26 SNCA PRKN
27 regulation of synaptic vesicle transport GO:1902803 9.16 PRKN LRRK2
28 negative regulation of protein phosphorylation GO:0001933 9.13 SNCA PRKN LRRK2
29 negative regulation of neuron death GO:1901215 8.8 SNCA PRKN LRRK2

Molecular functions related to Lrrk2 Parkinson Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.54 SNCA PRKN LRRK2
2 microtubule binding GO:0008017 9.43 SNCA LRRK2
3 magnesium ion binding GO:0000287 9.4 SNCA LRRK2
4 SNARE binding GO:0000149 9.32 SNCA LRRK2
5 tubulin binding GO:0015631 9.26 PRKN LRRK2
6 Hsp70 protein binding GO:0030544 9.16 SNCA PRKN
7 actin binding GO:0003779 9.13 SNCA PRKN LRRK2
8 phospholipase binding GO:0043274 8.62 SNCA PRKN

Sources for Lrrk2 Parkinson Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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