PARK8
MCID: PRK059
MIFTS: 48

Parkinson Disease 8 (PARK8) malady

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

Aliases & Classifications for Parkinson Disease 8

Aliases & Descriptions for Parkinson Disease 8:

Name: Parkinson Disease 8 54 66 13 69 69
Autosomal Dominant Parkinson Disease 8 12 29
Park8 66

Characteristics:

HPO:

32
parkinson disease 8:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression incomplete penetrance


Classifications:



External Ids:

OMIM 54 607060
Disease Ontology 12 DOID:0060371
MedGen 40 C1846862
MeSH 42 D010300

Summaries for Parkinson Disease 8

UniProtKB/Swiss-Prot : 66 Parkinson disease 8: A slowly progressive neurodegenerative disorder characterized by bradykinesia, rigidity, resting tremor, postural instability, neuronal loss in the substantia nigra, and the presence of neurofibrillary MAPT (tau)-positive and Lewy bodies in some patients.

MalaCards based summary : Parkinson Disease 8, also known as autosomal dominant parkinson disease 8, is related to lrrk2-related parkinson disease and parkinson disease, late-onset, and has symptoms including bradykinesia, hyposmia and rigidity. An important gene associated with Parkinson Disease 8 is LRRK2 (Leucine Rich Repeat Kinase 2), 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 Rasagiline and Acetylcholine have been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 A Parkinson's disease that has material basis in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12.

Description from OMIM: 607060

Related Diseases for Parkinson Disease 8

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 7, Autosomal Recessive Early-Onset Parkinson Disease 6, Early Onset
Parkinson Disease 19, Juvenile-Onset Parkinson Disease 10
Parkinson Disease 16 Parkinson Disease 13
Parkinson Disease 11 Parkinson Disease 21
Parkinson Disease 18 Parkinson Disease 5
Parkinson Disease 4 Parkinson Disease 1
Parkinson Disease, Juvenile, Type 2 Parkinson Disease 8
Parkinson Disease 17 Parkinson Disease 20, Early-Onset
Parkinson Disease 15, Autosomal Recessive Parkinson Disease 14, Autosomal Recessive
Parkinson Disease 12 Juvenile Onset Parkinson Disease 19a
Juvenile-Onset Parkinson Disease Early-Onset Parkinson Disease
Lrrk2-Related Parkinson Disease Parkinson Disease Type 3
Parkinson Disease Type 9 Dnajc6-Related Parkinson Disease
Eif4g1-Related Parkinson Disease Gigyf2-Related Parkinson Disease
Pla2g6-Related Parkinson Disease Synj1-Related Parkinson Disease
Fbxo7-Related Parkinson Disease Htra2-Related Parkinson Disease
Park7-Related Parkinson Disease Snca-Related Parkinson Disease
Vps35-Related Parkinson Disease Hereditary Late-Onset Parkinson Disease
Parkinson Disease 22 Parkinson Disease 23, Autosomal Recessive, Early Onset

Diseases related to Parkinson Disease 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
id Related Disease Score Top Affiliating Genes
1 lrrk2-related parkinson disease 11.1
2 parkinson disease, late-onset 11.0
3 kufor-rakeb syndrome 10.0 PARK7 PINK1
4 transient neonatal myasthenia gravis 9.9 LRRK2 SNCA
5 lower gum cancer 9.9 LRRK2 SNCA
6 riedel's fibrosing thyroiditis 9.9 LRRK2 SNCA
7 benign partial epilepsy with secondarily generalized seizures in infancy 9.9 LRRK2 SNCA
8 sudden infant death syndrome 9.9 CTNNB1 SNCA
9 parkinson disease 6, early onset 9.9 LRRK2 PARK7 PINK1
10 autoimmune disease of urogenital tract 9.9 LRRK2 SNCA
11 cardiomyopathy, dilated, 1u 9.9 LRRK2 SNCA
12 thyrotropin-releasing hormone deficiency 9.8 LRRK2 SNCA
13 spink1-related hereditary pancreatitis 9.8 LRRK2 PARK7 SNCA
14 plekhm1-related autosomal recessive osteopetrosis 9.8 LRRK2 PARK7 SNCA
15 meier-gorlin syndrome 5 9.8 LRRK2 PARK7 SNCA
16 coenzyme q10 deficiency, primary, 1 9.8 LRRK2 PARK7 SNCA
17 autism 19 9.7 LRRK2 SNCA
18 multiple system atrophy 9.7 PARK7 PINK1 SNCA
19 epithelioid type angiomyolipoma 9.7 LRRK2 PINK1 SNCA
20 ceroid lipofuscinosis, neuronal, 1 9.6 LRRK2 PARK7 PINK1 SNCA
21 thrombosis 9.6 LRRK2 PARK7 PINK1 SNCA
22 trichothiodystrophy 3, photosensitive 9.6 LRRK2 PARK7 PINK1 SNCA
23 klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 9.6 LRRK2 PARK7 PINK1 SNCA
24 hypoproteinemia, hypercatabolic 9.6 LRRK2 PARK7 PINK1 SNCA
25 cavernous hemangioma 9.5 LRRK2 PARK7 PINK1 SNCA
26 gallbladder adenoma 9.5 LRRK2 PARK7 PINK1 SNCA
27 hemochromatosis, type 2a 9.5 LRRK2 PARK7 PINK1 SNCA
28 substance-induced psychosis 9.5 LRRK2 PARK7 PINK1 SNCA
29 lethal congenital contracture syndrome 8 9.4 CTNNB1 LRRK2 PARK7 PINK1 SNCA

Graphical network of the top 20 diseases related to Parkinson Disease 8:



Diseases related to Parkinson Disease 8

Symptoms & Phenotypes for Parkinson Disease 8

Symptoms by clinical synopsis from OMIM:

607060

Clinical features from OMIM:

607060

Human phenotypes related to Parkinson Disease 8:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 bradykinesia 32 HP:0002067
2 hyposmia 32 HP:0004409
3 rigidity 32 HP:0002063
4 dementia 32 HP:0000726
5 postural instability 32 HP:0002172
6 resting tremor 32 HP:0002322
7 lewy bodies 32 HP:0100315
8 parkinsonism with favorable response to dopaminergic medication 32 HP:0002548
9 substantia nigra gliosis 32 HP:0011960

UMLS symptoms related to Parkinson Disease 8:


muscle rigidity, bradykinesia, hyposmia

MGI Mouse Phenotypes related to Parkinson Disease 8:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 LRRK2 PARK7 PINK1 SNCA CTNNB1
2 cellular MP:0005384 9.72 CTNNB1 LRRK2 PARK7 PINK1 SNCA
3 homeostasis/metabolism MP:0005376 9.65 CTNNB1 LRRK2 PARK7 PINK1 SNCA
4 nervous system MP:0003631 9.55 CTNNB1 LRRK2 PARK7 PINK1 SNCA
5 no phenotypic analysis MP:0003012 9.26 CTNNB1 LRRK2 PINK1 SNCA
6 taste/olfaction MP:0005394 8.8 CTNNB1 PINK1 SNCA

Drugs & Therapeutics for Parkinson Disease 8

Drugs for Parkinson Disease 8 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 238)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rasagiline Approved Phase 4,Phase 3,Phase 1 136236-51-6 3052776
2
Acetylcholine Approved Phase 4,Phase 2 51-84-3 187
3
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
4
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 91374-20-8, 91374-21-9 5095 497540
5
Levodopa Approved Phase 4,Phase 3,Phase 2,Phase 1 59-92-7 6047
6
Carbidopa Approved Phase 4,Phase 3,Phase 2,Phase 1 28860-95-9 34359 38101
7
Entacapone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 130929-57-6 5281081
8
Selegiline Approved, Investigational, Vet_approved Phase 4,Phase 2 14611-51-9 26757 5195
9
Amantadine Approved Phase 4,Phase 3,Phase 2 768-94-5 2130
10
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
11
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
12
Rivastigmine Approved, Investigational Phase 4,Phase 3 123441-03-2 77991
13
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
14
Cabergoline Approved Phase 4 81409-90-7 54746
15
Droxidopa Approved, Investigational Phase 4,Phase 3 23651-95-8 443940
16
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
17
Fesoterodine Approved Phase 4 286930-02-7, 286930-03-8 6918558
18
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
19
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
20
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
21 Neuroprotective Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
23 abobotulinumtoxinA Phase 4,Phase 2
24 Botulinum Toxins Phase 4,Phase 2
25 Botulinum Toxins, Type A Phase 4,Phase 2
26 Cholinergic Agents Phase 4,Phase 3,Phase 2
27 incobotulinumtoxinA Phase 4,Phase 2
28 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
29 onabotulinumtoxinA Phase 4,Phase 2
30 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Dopamine agonists Phase 4,Phase 3,Phase 2,Phase 1
32 N 0437 Phase 4,Phase 3,Phase 2,Phase 1
33 Dihydroxyphenylalanine Phase 4,Phase 3,Phase 2
34 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3
36 Anesthetics Phase 4,Phase 3
37 Dopamine Uptake Inhibitors Phase 4,Phase 3
38 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1
39 Adjuvants, Immunologic Phase 4,Phase 3,Phase 2,Phase 1
40 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
41 Carbidopa, levodopa drug combination Phase 4,Phase 3,Phase 2,Phase 1
42 Catechol O-Methyltransferase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
43 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
44 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
45 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Antiviral Agents Phase 4,Phase 3,Phase 2
47 Benserazide Phase 4,Phase 3,Phase 2,Phase 1
48 Benserazide, levodopa drug combination Phase 4,Phase 2,Phase 3,Phase 1
49 Narcotic Antagonists Phase 4
50 Narcotics Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show top 50) (show all 290)
id Name Status NCT ID Phase
1 Emotion, Mood and Executive Function in Parkinson`s Disease (PD) Unknown status NCT01385735 Phase 4
2 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4
3 Trial to Evaluate The Efficacy Of Rotigotine on Parkinson's Disease-Associated Motor Symptoms And Apathy Completed NCT01782222 Phase 4
4 Study to Evaluate the Efficacy of Rotigotine on Parkinson's Disease-Associated Pain Completed NCT01744496 Phase 4
5 A Fixed Dose, Dose Response Study for Ropinirole Prolonged Release in Patients With Early Stage Parkinson's Disease Completed NCT01485172 Phase 4
6 A Fixed Dose Study of Ropinirole Prolonged Release as Adjunctive Treatment in Patients With Advanced Parkinson's Disease Completed NCT01494532 Phase 4
7 Study to Compare the Effect of Treatment With Carbidopa/Levodopa/Entacapone on the Quality of Life of Patients With Parkinson's Disease. This Study is Not Recruiting in the United States Completed NCT00143026 Phase 4
8 Tolerability and Efficacy of Switch From Oral Selegiline to Orally Disintegrating Selegiline (Zelapar) in Patients With Parkinson's Disease Completed NCT00640159 Phase 4
9 Long-Term Effects of Amantadine in Parkinsonian (AMANDYSK) Completed NCT00632762 Phase 4
10 Levodopa Benserazide Generic Formulation Versus the Originator Completed NCT02741947 Phase 4
11 Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson's Disease Completed NCT01662414 Phase 4
12 Validation of Dyskinesia Rating Scales Completed NCT01071395 Phase 4
13 Study to Evaluate Initiation of Stalevo in Early Wearing-off Completed NCT00462007 Phase 4
14 Naltrexone for Impulse Control Disorders in Parkinson's Disease Completed NCT01052831 Phase 4
15 Placebo-controlled Study in Patients With Parkinson's Disease to Evaluate the Effect of Rotigotine on Non-motor Symptoms Completed NCT01300819 Phase 4
16 Effectiveness of Antidepressant Treatment for Depression in People With Parkinson's Disease Completed NCT00304161 Phase 4
17 Motor Response to Sildenafil in PD Completed NCT01941732 Phase 4
18 A Phase 4, Open-label Study to Assess the Feasibility and Efficacy on Motor and Non-motor Symptoms of Switching From Pramipexole or Ropinirole to Rotigotine Transdermal Patch in Subjects With Advanced Idiopathic Parkinson's Disease Completed NCT01711866 Phase 4
19 The Effects of the Rivastigmine Patch on Parkinson's Disease With Memory and/or Thinking Problems Completed NCT00988117 Phase 4
20 A Trial of Neupro® (Rotigotine Transdermal Patch) in Patients With Parkinson's Disease Undergoing Surgery Completed NCT00594464 Phase 4
21 Rotigotine Versus Placebo to Evaluate the Efficacy on Depressive Symptoms in Idiopathic Parkinson's Disease Patients Completed NCT01523301 Phase 4
22 Effects of Rasagiline on Sleep Disturbances in Parkinson's Disease Completed NCT01442610 Phase 4
23 Methylphenidate for the Treatment of Gait Impairment in Parkinson's Disease Completed NCT00526630 Phase 4
24 Effects of Carbidopa/Levodopa/Entacapone on Motor Function and Quality of Life in Patients With Parkinson's Disease Completed NCT00219284 Phase 4
25 Cardiac Valve Complications in Prolactinomas Treated With Cabergoline Completed NCT00460616 Phase 4
26 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4
27 Sagene 2014 - Parkinson's Disease and Erectile Dysfunction Recruiting NCT02225548 Phase 4
28 A Randomized, Double-Blind, Placebo-Controlled Study of Droxidopa for Fatigue in Parkinson's Disease Recruiting NCT03034564 Phase 4
29 Anxiety in Parkinson's: Use of Quantitative Methods to Guide Rational Treatment Recruiting NCT02365870 Phase 4
30 Effect of Short-term Motilitone Therapy on Health-related Quality of Life in PD Patients With Gastrointestinal Symptoms Recruiting NCT02775591 Phase 4
31 Fesoterodine on Urgency Episodes in Parkinson's Disease Population Recruiting NCT02385500 Phase 4
32 Care for Late Stage Parkinsonism Recruiting NCT02333175 Phase 4
33 Effect of Acetylcholinesterase Inhibitors on the Gait of the Patients With Parkinson Disease Not yet recruiting NCT03011476 Phase 4
34 Carbidopa/Levodopa/Entacapone Versus Immediate Release (IR) Carbidopa/Levodopa on Non-motor Symptoms in Patients With Idiopathic Parkinson's Disease and Demonstrating Non-motor Symptoms of Wearing Off Terminated NCT00642356 Phase 4
35 Sleep Efficiency Assessed by Polysomnography (PSG Sleep Lab Testing) in Advanced Parkinson's Disease Terminated NCT01519882 Phase 4
36 Ramelteon (ROZEREM) in the Treatment of Sleep Disturbances Associated With Parkinson's Disease Terminated NCT00462254 Phase 4
37 Clinical Effects of Vitamin D Repletion in Patients With Parkinson's Disease Terminated NCT00571285 Phase 4
38 Multicenter Placebo Controlled Study to Assess the Effect of Rasagiline on Sleep-wake Disturbances in Patients With Parkinson's Disease Terminated NCT01178047 Phase 4
39 Evaluation of the Tolerance and Acceptability of Rasagiline in the Treatment of Early-stage Parkinson's Disease Terminated NCT01048229 Phase 4
40 Two Separate But Identical Studies Evaluating the Safety and Efficacy of ALTROPANE® in the Use of SPECT Imaging for Upper Extremity Tremor Unknown status NCT00724906 Phase 3
41 A Study to Evaluate the Efficacy of 18 to 24mg/Day Ropinirole Controlled Release (CR) Tablets in Early and Advanced Parkinson's Disease (PD) Patients. Completed NCT01929317 Phase 3
42 A Two Part Study (306A/306B) to Assess Droxidopa in Treatment of NOH in Patients With Parkinson's Disease Completed NCT01176240 Phase 3
43 A Phase III, Randomised, Double-blind, Placebo-controlled, Parallel Group Study of Six Months Treatment With Ropinirole PR as Adjunctive Therapy in Patients With Parkinson's Disease Who Are Not Optimally Controlled on L-Dopa Completed NCT01154166 Phase 3
44 Safety and Tolerability Trial of Switching From Ropinirole to Rotigotine Completed NCT00593606 Phase 3
45 Safinamide as Add-On Therapy in Patients With Early Idiopathic Parkinson's Disease Treated With a Stable Dose of a Single Dopamine Agonist Completed NCT00643045 Phase 3
46 A Phase 3b, Open-Label, Safety and Efficacy Study of Rotigotine as Add-On Therapy With Low Doses of Pramipexole or Ropinirole in Patients With Advanced Parkinson's Disease Completed NCT01723904 Phase 3
47 Long-term Effect of Low Frequency Stimulation on Aspiration and Freezing of Gait in PD With STN DBS Completed NCT02549859 Phase 2, Phase 3
48 The Efficacy, Safety and Tolerability of E2007 in Levodopa Treated Parkinson's Disease Patients With Motor Fluctuations Completed NCT00286897 Phase 3
49 Efficiency of Physiotherapeutic Care in Parkinson's Disease Completed NCT00330694 Phase 3
50 A Trial to Evaluate the Effects of Rotigotine Transdermal Patch on Early Morning Motor Impairment and Sleep Disorders Idiopathic Parkinson's Disease Completed NCT00243945 Phase 3

Search NIH Clinical Center for Parkinson Disease 8

Genetic Tests for Parkinson Disease 8

Genetic tests related to Parkinson Disease 8:

id Genetic test Affiliating Genes
1 Parkinson Disease 8, Autosomal Dominant 29

Anatomical Context for Parkinson Disease 8

Publications for Parkinson Disease 8

Variations for Parkinson Disease 8

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 8:

66 (show all 21)
id Symbol AA change Variation ID SNP ID
1 LRRK2 p.Arg1067Gln VAR_024938 rs111341148
2 LRRK2 p.Ile1122Val VAR_024940 rs34805604
3 LRRK2 p.Ser1228Thr VAR_024941 rs60185966
4 LRRK2 p.Arg1441Gly VAR_024946 rs33939927
5 LRRK2 p.Arg1441His VAR_024947 rs34995376
6 LRRK2 p.Arg1514Gln VAR_024948 rs35507033
7 LRRK2 p.Pro1542Ser VAR_024949 rs33958906
8 LRRK2 p.Val1598Glu VAR_024950 rs721710
9 LRRK2 p.Tyr1699Cys VAR_024954 rs35801418
10 LRRK2 p.Met1869Thr VAR_024955 rs35602796
11 LRRK2 p.Arg1941His VAR_024956 rs77428810
12 LRRK2 p.Ile2012Thr VAR_024957 rs34015634
13 LRRK2 p.Gly2019Ser VAR_024958 rs34637584
14 LRRK2 p.Ile2020Thr VAR_024959 rs35870237
15 LRRK2 p.Thr2356Ile VAR_024963 rs113511708
16 LRRK2 p.Met712Val VAR_054741 rs199566791
17 LRRK2 p.Arg1728His VAR_054744 rs145364431
18 LRRK2 p.Arg1728Leu VAR_054745 rs145364431
19 LRRK2 p.Thr2141Met VAR_054747 rs111691891
20 LRRK2 p.Arg2143His VAR_054748 rs201271001
21 LRRK2 p.Leu2466His VAR_054750 rs281865057

ClinVar genetic disease variations for Parkinson Disease 8:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 LRRK2 NM_198578.3(LRRK2): c.4321C> G (p.Arg1441Gly) single nucleotide variant Pathogenic rs33939927 GRCh37 Chromosome 12, 40704236: 40704236
2 LRRK2 NM_198578.3(LRRK2): c.5096A> G (p.Tyr1699Cys) single nucleotide variant Pathogenic rs35801418 GRCh37 Chromosome 12, 40714916: 40714916
3 LRRK2 NM_198578.3(LRRK2): c.4321C> T (p.Arg1441Cys) single nucleotide variant Pathogenic rs33939927 GRCh37 Chromosome 12, 40704236: 40704236
4 LRRK2 NM_198578.3(LRRK2): c.3364A> G (p.Ile1122Val) single nucleotide variant Pathogenic rs34805604 GRCh37 Chromosome 12, 40692927: 40692927
5 LRRK2 NM_198578.3(LRRK2): c.6055G> A (p.Gly2019Ser) single nucleotide variant Pathogenic rs34637584 GRCh37 Chromosome 12, 40734202: 40734202
6 LRRK2 NM_198578.3(LRRK2): c.6059T> C (p.Ile2020Thr) single nucleotide variant Pathogenic rs35870237 GRCh37 Chromosome 12, 40734206: 40734206
7 LRRK2 NM_198578.3(LRRK2): c.4322G> A (p.Arg1441His) single nucleotide variant Pathogenic rs34995376 GRCh37 Chromosome 12, 40704237: 40704237
8 LRRK2 NM_198578.3(LRRK2): c.7153G> A (p.Gly2385Arg) single nucleotide variant risk factor rs34778348 GRCh37 Chromosome 12, 40757328: 40757328
9 LRRK2 NM_198578.3(LRRK2): c.1256C> T (p.Ala419Val) single nucleotide variant Pathogenic rs34594498 GRCh37 Chromosome 12, 40646786: 40646786
10 LRRK2 NM_198578.3(LRRK2): c.3342A> G (p.Leu1114=) single nucleotide variant Pathogenic rs35808389 GRCh37 Chromosome 12, 40692290: 40692290
11 LRRK2 NM_198578.3(LRRK2): c.4309A> C (p.Asn1437His) single nucleotide variant Pathogenic rs74163686 GRCh37 Chromosome 12, 40703027: 40703027
12 LRRK2 NM_198578.3(LRRK2): c.5605A> G (p.Met1869Val) single nucleotide variant Pathogenic rs281865052 GRCh37 Chromosome 12, 40717057: 40717057
13 LRRK2 NM_198578.3(LRRK2): c.5620G> T (p.Glu1874Ter) single nucleotide variant Pathogenic rs281865054 GRCh37 Chromosome 12, 40717072: 40717072

Expression for Parkinson Disease 8

Search GEO for disease gene expression data for Parkinson Disease 8.

Pathways for Parkinson Disease 8

GO Terms for Parkinson Disease 8

Cellular components related to Parkinson Disease 8 according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.78 LRRK2 PARK7 PINK1 SNCA
2 synapse GO:0045202 9.61 CTNNB1 LRRK2 SNCA
3 chromatin GO:0000785 9.54 PARK7 PINK1
4 synaptic vesicle GO:0008021 9.52 LRRK2 SNCA
5 cell-cell adherens junction GO:0005913 9.51 CTNNB1 PARK7
6 cell body GO:0044297 9.49 PARK7 PINK1
7 mitochondrial intermembrane space GO:0005758 9.46 PARK7 PINK1
8 perinuclear region of cytoplasm GO:0048471 9.46 CTNNB1 PARK7 PINK1 SNCA
9 terminal bouton GO:0043195 9.4 LRRK2 SNCA
10 mitochondrial respiratory chain complex I GO:0005747 9.37 PARK7 SNCA
11 postsynapse GO:0098794 9.32 LRRK2 SNCA
12 inclusion body GO:0016234 9.26 LRRK2 SNCA
13 Wnt signalosome GO:1990909 8.96 CTNNB1 LRRK2
14 axon GO:0030424 8.92 LRRK2 PARK7 PINK1 SNCA

Biological processes related to Parkinson Disease 8 according to GeneCards Suite gene sharing:

(show all 38)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.85 PARK7 PINK1 SNCA
2 negative regulation of gene expression GO:0010629 9.77 CTNNB1 PARK7 PINK1
3 autophagy GO:0006914 9.77 LRRK2 PARK7 PINK1
4 negative regulation of neuron apoptotic process GO:0043524 9.73 PARK7 PINK1 SNCA
5 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.69 CTNNB1 PARK7 PINK1
6 positive regulation of protein kinase B signaling GO:0051897 9.68 PARK7 PINK1
7 canonical Wnt signaling pathway GO:0060070 9.67 CTNNB1 LRRK2
8 excitatory postsynaptic potential GO:0060079 9.67 LRRK2 SNCA
9 negative regulation of cell death GO:0060548 9.66 CTNNB1 PARK7
10 positive regulation of protein ubiquitination GO:0031398 9.66 LRRK2 PINK1
11 negative regulation of protein binding GO:0032091 9.65 LRRK2 PARK7
12 adult locomotory behavior GO:0008344 9.65 PARK7 SNCA
13 cellular protein localization GO:0034613 9.65 CTNNB1 LRRK2
14 mitochondrion organization GO:0007005 9.65 LRRK2 PARK7 PINK1
15 synapse organization GO:0050808 9.64 CTNNB1 SNCA
16 regulation of mitochondrial membrane potential GO:0051881 9.64 PARK7 PINK1
17 activation of protein kinase B activity GO:0032148 9.63 PARK7 PINK1
18 regulation of neuron apoptotic process GO:0043523 9.63 PARK7 PINK1
19 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.63 PARK7 PINK1 SNCA
20 regulation of reactive oxygen species metabolic process GO:2000377 9.62 PINK1 SNCA
21 regulation of neuron death GO:1901214 9.62 LRRK2 SNCA
22 synaptic transmission, dopaminergic GO:0001963 9.61 PARK7 SNCA
23 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.61 LRRK2 PARK7
24 negative regulation of protein phosphorylation GO:0001933 9.61 LRRK2 PARK7 SNCA
25 negative regulation of macroautophagy GO:0016242 9.58 LRRK2 PINK1
26 negative regulation of autophagosome assembly GO:1902902 9.58 LRRK2 PINK1
27 synaptic vesicle transport GO:0048489 9.57 CTNNB1 SNCA
28 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.55 LRRK2 PARK7
29 negative regulation of protein sumoylation GO:0033234 9.54 CTNNB1 PARK7
30 regulation of locomotion GO:0040012 9.52 LRRK2 SNCA
31 dopamine uptake involved in synaptic transmission GO:0051583 9.49 PARK7 SNCA
32 regulation of synaptic vesicle transport GO:1902803 9.4 LRRK2 PINK1
33 negative regulation of oxidative stress-induced cell death GO:1903202 9.37 PARK7 PINK1
34 negative regulation of oxidative stress-induced neuron death GO:1903204 9.33 CTNNB1 PARK7 PINK1
35 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 9.32 PARK7 PINK1
36 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 9.26 PARK7 PINK1
37 cellular response to oxidative stress GO:0034599 9.26 LRRK2 PARK7 PINK1 SNCA
38 negative regulation of neuron death GO:1901215 8.92 CTNNB1 LRRK2 PARK7 SNCA

Molecular functions related to Parkinson Disease 8 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.43 CTNNB1 LRRK2
2 enzyme binding GO:0019899 9.43 CTNNB1 PARK7 SNCA
3 double-stranded DNA binding GO:0003690 9.4 CTNNB1 PARK7
4 kinase binding GO:0019900 9.37 CTNNB1 PARK7
5 copper ion binding GO:0005507 9.32 PARK7 SNCA
6 androgen receptor binding GO:0050681 9.16 CTNNB1 PARK7
7 repressing transcription factor binding GO:0070491 8.96 CTNNB1 PARK7
8 cuprous ion binding GO:1903136 8.62 PARK7 SNCA

Sources for Parkinson Disease 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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