PARK2
MCID: PRK089
MIFTS: 59

Parkinson Disease 2, Autosomal Recessive Juvenile (PARK2)

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

Aliases & Classifications for Parkinson Disease 2, Autosomal Recessive Juvenile

MalaCards integrated aliases for Parkinson Disease 2, Autosomal Recessive Juvenile:

Name: Parkinson Disease 2, Autosomal Recessive Juvenile 56 71
Young-Onset Parkinson Disease 52 58 29 6
Parkinson Disease 2 52 73 29 6
Parkinson Disease, Juvenile, Type 2 56 29 13
Park2 56 52 73
Pdj 56 52 73
Autosomal Recessive Juvenile Parkinson Disease 52 73
Early-Onset Parkinson Disease 52 58
Parkinson's Disease 2 12 15
Epdf 56 73
Parkinsonism, Early-Onset, with Diurnal Fluctuation; Epdf 56
Autosomal Recessive Early-Onset Parkinson Disease Type 2 73
Parkinson Disease, Juvenile, Autosomal Recessive; Pdj 56
Chromosome 6-Linked Autosomal Recessive Parkinsonism 73
Parkinsonism, Early-Onset, with Diurnal Fluctuation 56
Parkinsonism, Early Onset, with Diurnal Fluctuation 52
Autosomal Recessive Juvenile Parkinson's Disease 2 12
Parkinson Disease Autosomal Recessive, Early Onset 52
Early-Onset Parkinsonism with Diurnal Fluctuation 73
Parkinson Disease, Juvenile, Autosomal Recessive 56
Autosomal Recessive Juvenile Parkinson Disease 2 12
Parkinsonism Young Adult Onset 73
Parkinson Disease, Type 2 39
Parkinsonism, Juvenile 71
Juvenile Parkinsonism 52
Yopd 58
Jp 52

Characteristics:

Orphanet epidemiological data:

58
young-onset parkinson disease
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Adult; Age of death: elderly;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
levodopa-responsive
onset before age 40 years
symptoms improve following sleep
high frequency of levodopa-induced dyskinesias
see also park6 , park7 , and park9 for autosomal recessive disorders with overlapping phenotypes


HPO:

31
parkinson disease 2, autosomal recessive juvenile:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Parkinson Disease 2, Autosomal Recessive Juvenile

UniProtKB/Swiss-Prot : 73 Parkinson disease 2: A neurodegenerative disorder characterized by bradykinesia, rigidity, postural instability, tremor, and onset usually before 40. It differs from classic Parkinson disease by early DOPA-induced dyskinesia, diurnal fluctuation of the symptoms, sleep benefit, dystonia and hyper-reflexia. Dementia is absent. Pathologically, patients show loss of dopaminergic neurons in the substantia nigra, similar to that seen in Parkinson disease; however, Lewy bodies (intraneuronal accumulations of aggregated proteins) are absent.

MalaCards based summary : Parkinson Disease 2, Autosomal Recessive Juvenile, also known as young-onset parkinson disease, is related to atypical juvenile parkinsonism and parkinson disease 6, autosomal recessive early-onset, and has symptoms including tremor, bradykinesia and muscle rigidity. An important gene associated with Parkinson Disease 2, Autosomal Recessive Juvenile is PRKN (Parkin RBR E3 Ubiquitin Protein Ligase), and among its related pathways/superpathways are Parkinson disease and Chks in Checkpoint Regulation. The drugs Levodopa and Rifaximin have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are rigidity and hallucinations

Disease Ontology : 12 An early-onset Parkinson's disease that has material basis in mutation in the parkin gene on chromosome 6q25.2-q27.

More information from OMIM: 600116 PS168600

Related Diseases for Parkinson Disease 2, Autosomal Recessive Juvenile

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
Vps35-Related Parkinson Disease Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease 2, Autosomal Recessive Juvenile via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 233)
# Related Disease Score Top Affiliating Genes
1 atypical juvenile parkinsonism 34.1 PODXL DNAJC6
2 parkinson disease 6, autosomal recessive early-onset 33.9 PINK1 PARK7
3 kufor-rakeb syndrome 32.4 SNCA PRKN PINK1 PARK7 LRRK2 ATP13A2
4 parkinson disease 15, autosomal recessive early-onset 31.7 SNCA PRKN PINK1 PARK7 LRRK2 ATP13A2
5 tremor 30.4 SNCA PRKN LRRK2 HTRA2
6 dystonia 30.3 PRKN PINK1 PARK7 LRRK2 ATP13A2
7 lrrk2 parkinson disease 30.3 SNCA LRRK2
8 hereditary late-onset parkinson disease 30.2 SNCA LRRK2
9 parkinson disease 1, autosomal dominant 30.1 SNCA PRKN LRRK2
10 juvenile-onset parkinson's disease 30.0 SNCA PRKN DNAJC6 ATP13A2
11 autosomal dominant cerebellar ataxia 30.0 SNCA PRKN PINK1 LRRK2
12 von economo's disease 29.9 SNCA LRRK2
13 rem sleep behavior disorder 29.9 SNCA PRKN PINK1 LRRK2
14 multiple system atrophy 1 29.8 SNCA PRKN PARK7 LRRK2
15 essential tremor 29.8 SNCA PRKN LRRK2 HTRA2
16 early-onset parkinson's disease 29.7 VPS13C SNCA PRKN PINK1 PARK7 LRRK2
17 parkinson disease, late-onset 29.7 VPS13C UCHL1 SNCA RAB3A PRKN PODXL
18 movement disease 29.5 SNCA PRKN PINK1 PARK7 OMD LRRK2
19 peripheral nervous system disease 29.5 UCHL1 SNCA PRKN PINK1 LRRK2
20 amyotrophic lateral sclerosis 1 29.0 UCHL1 SNCA PRKN PINK1 PARK7 LRRK2
21 dementia, lewy body 28.7 UCHL1 SNCA PRKN PINK1 PARK7 LRRK2
22 alzheimer disease 27.8 UCHL1 SNCA RAB3A PRKN PINK1 LRRK2
23 pink1 type of young-onset parkinson disease 12.7
24 juvenile polyposis syndrome 12.5
25 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.3
26 parkinson disease 20, early-onset 12.3
27 parkinson disease 23, autosomal recessive early-onset 12.2
28 parkinson disease 7, autosomal recessive early-onset 12.1
29 waisman syndrome 11.8
30 parkinson disease 19a, juvenile-onset 11.8
31 perry syndrome 11.3
32 hyperphenylalaninemia, mild, non-bh4-deficient 11.2
33 periodontitis, aggressive, 1 11.2
34 leprosy 3 10.4
35 hansen's disease 10.4
36 hereditary hemorrhagic telangiectasia 10.3
37 telangiectasis 10.3
38 hypoglycemia 10.3
39 muscular dystrophy, congenital, megaconial type 10.3 PRKN PINK1
40 autism spectrum disorder 10.3
41 plague 10.3
42 digeorge syndrome 10.2
43 parkinson disease 8, autosomal dominant 10.2
44 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
45 thyroxine-binding globulin quantitative trait locus 10.2
46 inherited thyroxine-binding globulin deficiency 10.2
47 autism 10.2
48 parkinson disease 21 10.2 PRKN LRRK2 DNAJC6
49 lung cancer 10.2
50 parkin type of early-onset parkinson disease 10.2

Graphical network of the top 20 diseases related to Parkinson Disease 2, Autosomal Recessive Juvenile:



Diseases related to Parkinson Disease 2, Autosomal Recessive Juvenile

Symptoms & Phenotypes for Parkinson Disease 2, Autosomal Recessive Juvenile

Human phenotypes related to Parkinson Disease 2, Autosomal Recessive Juvenile:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002063
2 hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0000738
3 dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0100660
4 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
5 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
6 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
7 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
8 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
9 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
10 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
11 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
12 gait imbalance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002141
13 insomnia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100785
14 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
15 color vision defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0000551
16 hyposmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004409
17 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
18 muscle spasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0003394
19 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
20 gastroparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002578
21 bradykinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002067
22 female sexual dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0030014
23 impaired social interactions 58 31 occasional (7.5%) Occasional (29-5%) HP:0000735
24 nausea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002018
25 abnormal autonomic nervous system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012332
26 panic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0025269
27 restless legs 58 31 occasional (7.5%) Occasional (29-5%) HP:0012452
28 male sexual dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0040307
29 diplopia 58 31 very rare (1%) Very rare (<4-1%) HP:0000651
30 impulsivity 58 31 very rare (1%) Very rare (<4-1%) HP:0100710
31 frontal lobe dementia 58 31 very rare (1%) Very rare (<4-1%) HP:0000727
32 agitation 58 31 very rare (1%) Very rare (<4-1%) HP:0000713
33 cognitive impairment 58 Occasional (29-5%)
34 gait disturbance 31 HP:0001288
35 dementia 58 Occasional (29-5%)
36 parkinsonism 31 HP:0001300
37 substantia nigra gliosis 31 HP:0011960

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
tremor
dystonia
rigidity
postural instability
bradykinesia
more

Clinical features from OMIM:

600116

UMLS symptoms related to Parkinson Disease 2, Autosomal Recessive Juvenile:


tremor, bradykinesia, muscle rigidity

GenomeRNAi Phenotypes related to Parkinson Disease 2, Autosomal Recessive Juvenile according to GeneCards Suite gene sharing:

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.62 CTSB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.62 RAB3A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.62 CTSB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.62 CTSB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.62 CTSB MSRA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.62 ATP13A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.62 ATP13A2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.62 ATP13A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.62 CTSB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.62 CTSB
11 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.62 MSRA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.62 CTSB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.62 CTSB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.62 ATP13A2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.62 MSRA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.62 CTSB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.62 RAB3A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.62 MSRA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.62 ATP13A2

MGI Mouse Phenotypes related to Parkinson Disease 2, Autosomal Recessive Juvenile:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ATP13A2 CTSB HTRA2 LRRK2 MSRA OMD
2 cardiovascular system MP:0005385 9.91 ATP13A2 FES HTRA2 LRRK2 PINK1 PRKN
3 growth/size/body region MP:0005378 9.9 CTSB DNAJC6 FES HTRA2 MSRA PARK7
4 homeostasis/metabolism MP:0005376 9.77 ATP13A2 CTSB FES HTRA2 LRRK2 MSRA
5 nervous system MP:0003631 9.4 ATP13A2 CTSB DNAJC6 FES HTRA2 LRRK2

Drugs & Therapeutics for Parkinson Disease 2, Autosomal Recessive Juvenile

Drugs for Parkinson Disease 2, Autosomal Recessive Juvenile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved Phase 3 59-92-7 6047
2
Rifaximin Approved, Investigational Phase 1, Phase 2 80621-81-4 6436173 46783403
3
Carbon monoxide Approved, Investigational Phase 1, Phase 2 630-08-0 281
4
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
5
Sodium citrate Approved, Investigational Phase 2 68-04-2
6
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
7 Anti-Bacterial Agents Phase 1, Phase 2
8 Gastrointestinal Agents Phase 1, Phase 2
9 Anti-Infective Agents Phase 1, Phase 2
10 Phosphodiesterase Inhibitors Phase 2
11 Phosphodiesterase 5 Inhibitors Phase 2
12 Citrate Phase 2
13 Vasodilator Agents Phase 2
14 Sildenafil Citrate Phase 2 171599-83-0
15
tannic acid Approved 1401-55-4
16
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
17
Cabergoline Approved 81409-90-7 54746
18 Dopamine Agents
19 Neurotransmitter Agents
20 Dopamine agonists
21 Antiparkinson Agents
22 Insulin, Globin Zinc
23 insulin

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study of the Efficacy, Safety, and Tolerability of E2007 in Levodopa Treated Parkinson's Disease Patients With Motor Fluctuations Completed NCT00368108 Phase 3 2 mg perampanel;4 mg perampanel;placebo comparator
2 A Phase 2, 12-Week, Multicenter, Randomized, Double-Blind, Placebo-Controlled, Dose-Finding Study to Assess the Efficacy and Safety of Preladenant in Japanese Subjects With Moderate to Severe Parkinson's Disease. (Phase 2; Protocol No. P06402) Completed NCT01294800 Phase 2 Preladenant;Placebo tablet to match Preladenant
3 Glutathione (GSH) In The Treatment of Parkinson's Disease Completed NCT01177319 Phase 2 Glutathione
4 Modulation of Gut Microbiota by Rifaximin in PD Patients Recruiting NCT03958708 Phase 1, Phase 2 Rifaximin 550 MG
5 A Randomized, Double-Blind, Placebo-Controlled, Phase IIa, Parallel Group, Two Cohort Study to Define the Safety, Tolerability, Clinical and Exploratory Biological Activity of the Chronic Administration of Nilotinib in Participants With Parkinson's Disease Active, not recruiting NCT03205488 Phase 2 Cohort 1:Nilotinib Oral Capsules (150mg or 300mg);Cohort 2: Nilotinib Oral Capsules (dose to be determined from Cohort 1);Placebo
6 Hyperbaric Oxygen for Carbon Monoxide Induced Chronic Encephalopathy Not yet recruiting NCT04118491 Phase 1, Phase 2
7 Assessment of Perampanel (E2007) on Synaptic Dopamine in Mild-moderate PD Patients: A Pilot Study With [^123I]-IBZM SPECT Terminated NCT00566462 Phase 2 perampanel;placebo
8 A Double-Blind, Placebo-Controlled, Cross-Over Study of Sildenafil (Viagra) for the Treatment of Dyskinesias in Parkinson's Disease Terminated NCT02162979 Phase 2 sildenafil;Placebo
9 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970
10 Genetic Characterization of Parkinson's Disease Completed NCT00105131
11 The Effect of Kinesiophobia on Physical Activity, Balance and Falling in Parkinson's Disease Patients Completed NCT03827746
12 The Effect of Whole Body Vibration on Sensorimotor Function in Individuals With Parkinson's Disease Completed NCT03777501
13 Observational Study to Investigate the Prevalence of Cardiac Abnormalities and Valvular Regurgitation in Patients With Prolactinomas Treated Chronically With Cabergoline Completed NCT00460616 Cabergoline
14 Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers Recruiting NCT03234478
15 Biomarker Analysis for Parkinson's Disease in Subjects With Glucocerebrosidase Mutations Recruiting NCT03811496
16 Pilotstudy to Develop a Guideline for Hometitration With Doudopa for Patients With Parkinson Disease Recruiting NCT04196647
17 Decrement of the Dual-task Performance in Individuals With Young-onset Parkinson's Disease and the Training Effects Not yet recruiting NCT04033393
18 Metabolic Phenotyping of Subjects With Mutations Associated With Hereditary Parkinson's Disease Terminated NCT01547832

Search NIH Clinical Center for Parkinson Disease 2, Autosomal Recessive Juvenile

Genetic Tests for Parkinson Disease 2, Autosomal Recessive Juvenile

Genetic tests related to Parkinson Disease 2, Autosomal Recessive Juvenile:

# Genetic test Affiliating Genes
1 Parkinson Disease 2 29 PRKN
2 Parkinson Disease, Juvenile, Type 2 29
3 Young-Onset Parkinson Disease 29

Anatomical Context for Parkinson Disease 2, Autosomal Recessive Juvenile

MalaCards organs/tissues related to Parkinson Disease 2, Autosomal Recessive Juvenile:

40
Brain

Publications for Parkinson Disease 2, Autosomal Recessive Juvenile

Articles related to Parkinson Disease 2, Autosomal Recessive Juvenile:

(show top 50) (show all 102)
# Title Authors PMID Year
1
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil. 6 56
16328510 2006
2
Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. 6 56
16130111 2005
3
Molecular findings in familial Parkinson disease in Spain. 56 6
12056932 2002
4
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. 6 56
11487568 2001
5
An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene. 56 6
11009195 2000
6
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. 6 56
10894217 2000
7
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. 56 6
9560156 1998
8
A family with hereditary juvenile dystonia-parkinsonism. 6 56
7565830 1995
9
PINK1 Type of Young-Onset Parkinson Disease 61 6
20301792 2010
10
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. 61 6
15596610 2004
11
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. 6
26942284 2016
12
Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity. 6
23792957 2013
13
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 6
23279440 2013
14
DJ-1 induces thioredoxin 1 expression through the Nrf2 pathway. 6
22492997 2012
15
Novel variant Pro143Ala in HTRA2 contributes to Parkinson's disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria. 6
21701785 2011
16
Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts. 6
21268678 2011
17
Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study. 56
21205674 2011
18
Loss of the Parkinson's disease-linked gene DJ-1 perturbs mitochondrial dynamics. 6
20639397 2010
19
A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2. 56
20876472 2010
20
Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study. 56
20837857 2010
21
Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. 56
20558392 2010
22
Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. 56
19067348 2008
23
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. 6
18704525 2008
24
PINK1 mutations and parkinsonism. 6
18685134 2008
25
Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism. 6
18524835 2008
26
Aberrant interaction between Parkinson disease-associated mutant UCH-L1 and the lysosomal receptor for chaperone-mediated autophagy. 6
18550537 2008
27
The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells. 6
18411255 2008
28
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. 6
18364387 2008
29
Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. 6
18401856 2008
30
Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method. 56
18413468 2008
31
Pink1 Parkinson mutations, the Cdc37/Hsp90 chaperones and Parkin all influence the maturation or subcellular distribution of Pink1. 6
18003639 2008
32
Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. 56
17187375 2007
33
T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. 6
17030667 2006
34
Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. 6
16966503 2006
35
Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? 6
16769864 2006
36
UCHL-1 is not a Parkinson's disease susceptibility gene. 6
16450370 2006
37
Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations. 6
16476817 2006
38
Differential expression of splice variant and wild-type parkin in sporadic Parkinson's disease. 6
16086186 2005
39
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. 6
16207731 2005
40
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. 6
16240358 2005
41
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. 6
15970950 2005
42
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. 6
16049031 2005
43
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 6
15961413 2005
44
Reduced amplitude of the sural nerve sensory action potential in PARK2 patients. 56
16087916 2005
45
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. 6
15955953 2005
46
Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. 6
15824318 2005
47
Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation. 56
15642918 2005
48
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). 6
15365989 2004
49
Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. 6
15349871 2004
50
Novel PINK1 mutations in early-onset parkinsonism. 6
15349870 2004

Variations for Parkinson Disease 2, Autosomal Recessive Juvenile

ClinVar genetic disease variations for Parkinson Disease 2, Autosomal Recessive Juvenile:

6 (show top 50) (show all 176) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRKN NC_000006.12:g.(?_162201131)_(162443473_?)deldeletion Pathogenic 417459 6:162622163-162864505 6:162201131-162443473
2 PRKN NC_000006.12:g.(?_162054091)_(162054174_?)deldeletion Pathogenic 417464 6:162475123-162475206 6:162054091-162054174
3 PRKN NC_000006.12:g.(?_162262505)_(162443493_?)deldeletion Pathogenic 468581 6:162262505-162443493
4 PRKN NC_000006.12:g.(?_162201111)_(162201272_?)deldeletion Pathogenic 468578 6:162201111-162201272
5 PRKN NC_000006.12:g.(?_162262505)_(162262785_?)deldeletion Pathogenic 468580 6:162262505-162262785
6 PRKN NC_000006.11:g.(?_162864322)_(162864525_?)dupduplication Pathogenic 468582 6:162864322-162864525 6:162443290-162443493
7 PRKN NC_000006.12:g.(?_162201111)_(162262785_?)deldeletion Pathogenic 468579 6:162622143-162683817 6:162201111-162262785
8 PRKN NM_004562.3(PRKN):c.155del (p.Asn52fs)deletion Pathogenic 536457 rs754809877 6:162864358-162864358 6:162443326-162443326
9 PRKN NC_000006.12:g.(?_161785752)_(161973437_?)deldeletion Pathogenic 536459 6:162206784-162394469 6:161785752-161973437
10 PRKN NC_000006.12:g.(?_161569335)_(161569436_?)deldeletion Pathogenic 583674 6:161990367-161990468 6:161569335-161569436
11 PRKN NM_004562.3(PRKN):c.560T>G (p.Leu187Ter)SNV Pathogenic 582111 rs1562485799 6:162475181-162475181 6:162054149-162054149
12 PRKN NC_000006.11:g.(?_162394314)_(162475226_?)dupduplication Pathogenic 583917 6:162394314-162475226 6:161973282-162054194
13 PRKN NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)SNV Pathogenic 578186 rs147757966 6:162864415-162864415 6:162443383-162443383
14 PRKN NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr)SNV Pathogenic 645725 6:162206917-162206917 6:161785885-161785885
15 PRKN NC_000006.11:g.(?_162206784)_(162206960_?)dupduplication Pathogenic 639364 6:162206784-162206960 6:161785752-161785928
16 PRKN NM_004562.3(PRKN):c.101del (p.Gln34fs)deletion Pathogenic 810636 6:162864412-162864412 6:162443380-162443380
17 PRKN NC_000006.12:g.(?_162262525)_(162275409_?)dupduplication Pathogenic 830820 6:162683557-162696441
18 PRKN NM_004562.2(PRKN):c.872-?_1083+?deldeletion Pathogenic 7041 6:161969886-161990448 6:161548854-161569416
19 PRKN PARK2, 1-BP DEL, 1072Tdeletion Pathogenic 7052
20 PRKN NM_004562.3(PRKN):c.7+1G>TSNV Pathogenic 7053 rs397518439 6:163148693-163148693 6:162727661-162727661
21 PRKN NM_004562.2(PRKN):c.8-?_171+?deldeletion Pathogenic 7040 6:162864342-162864505 6:162443310-162443473
22 PRKN NM_004562.2(PRKN):c.172-?_871+?deldeletion Pathogenic 7034 6:162206804-162683797 6:161785772-162262765
23 PRKN NM_004562.2(PRKN):c.413-?_534+?deldeletion Pathogenic 7035 6:162622163-162622284 6:162201131-162201252
24 PRKN NM_004562.3(PRKN):c.719C>G (p.Thr240Arg)SNV Pathogenic 7036 rs137853054 6:162394349-162394349 6:161973317-161973317
25 PRKN NM_004562.3(PRKN):c.931C>T (p.Gln311Ter)SNV Pathogenic 7037 rs137853055 6:161990389-161990389 6:161569357-161569357
26 PRKN NM_004562.3(PRKN):c.483A>T (p.Lys161Asn)SNV Pathogenic 7043 rs137853057 6:162622214-162622214 6:162201182-162201182
27 PRKN PARK2, 1-BP DEL, 202Adeletion Pathogenic 7044
28 PRKN NM_004562.2(PRKN):c.735-?_871+?deldeletion Pathogenic 7045 6:162206804-162206940 6:161785772-161785908
29 PRKN NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)SNV Pathogenic 7046 rs137853058 6:162394433-162394433 6:161973401-161973401
30 PRKN PARK2, 1-BP DEL, 255Adeletion Pathogenic 7048
31 PRKN NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)SNV Pathogenic 7050 rs34424986 6:162206852-162206852 6:161785820-161785820
32 PRKN NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)SNV Pathogenic 7051 rs137853060 6:162394435-162394435 6:161973403-161973403
33 PRKN PARK2, EX5-6DELdeletion Pathogenic 7055
34 PRKN NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe)SNV Pathogenic 50354 rs397514694 6:161771237-161771237 6:161350205-161350205
35 PRKN NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)SNV Pathogenic/Likely pathogenic 356016 rs191486604 6:161771240-161771240 6:161350208-161350208
36 PODXL NM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs)insertion Likely pathogenic 218942 rs1554391082 7:131241029-131241030 7:131556270-131556271
37 PRKN NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter)SNV Likely pathogenic 7042 rs137853056 6:161771171-161771171 6:161350139-161350139
38 PRKN NM_004562.3(PRKN):c.1301T>C (p.Met434Thr)SNV Likely pathogenic 810783 6:161771228-161771228 6:161350196-161350196
39 PRKN NM_004562.3(PRKN):c.734+1G>ASNV Likely pathogenic 571536 rs1562430103 6:162394333-162394333 6:161973301-161973301
40 PRKN NC_000006.11:g.(?_162683537)_(162683817_?)dupduplication Likely pathogenic 583519 6:162683537-162683817 6:162262505-162262785
41 PRKN deletion Likely pathogenic 560128 6:162621943-162941426 6:162200911-162520394
42 PRKN NM_004562.3(PRKN):c.535-9T>ASNV Conflicting interpretations of pathogenicity 420046 rs201039350 6:162475215-162475215 6:162054183-162054183
43 PRKN NM_004562.3(PRKN):c.1204C>T (p.Arg402Cys)SNV Conflicting interpretations of pathogenicity 425402 rs55830907 6:161781201-161781201 6:161360169-161360169
44 PRKN NM_004562.3(PRKN):c.919C>T (p.Leu307=)SNV Conflicting interpretations of pathogenicity 444707 rs138920699 6:161990401-161990401 6:161569369-161569369
45 PRKN NM_004562.3(PRKN):c.531C>A (p.Thr177=)SNV Conflicting interpretations of pathogenicity 696404 6:162622166-162622166 6:162201134-162201134
46 PRKN NM_004562.3(PRKN):c.174T>C (p.Asn58=)SNV Conflicting interpretations of pathogenicity 701646 6:162683795-162683795 6:162262763-162262763
47 PRKN NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)SNV Conflicting interpretations of pathogenicity 7038 rs55774500 6:162683724-162683724 6:162262692-162262692
48 PRKN NM_004562.3(PRKN):c.110C>T (p.Pro37Leu)SNV Conflicting interpretations of pathogenicity 871036 6:162864403-162864403 6:162443371-162443371
49 PRKN NM_004562.3(PRKN):c.719C>T (p.Thr240Met)SNV Conflicting interpretations of pathogenicity 7054 rs137853054 6:162394349-162394349 6:161973317-161973317
50 PRKN NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys)SNV Conflicting interpretations of pathogenicity 281504 rs199657839 6:161969969-161969969 6:161548937-161548937

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 2, Autosomal Recessive Juvenile:

73 (show all 26)
# Symbol AA change Variation ID SNP ID
1 PRKN p.Val15Met VAR_019733 rs532703934
2 PRKN p.Arg33Gln VAR_019734 rs147757966
3 PRKN p.Pro37Leu VAR_019735 rs148990138
4 PRKN p.Arg42Pro VAR_019736 rs368134308
5 PRKN p.Ala46Pro VAR_019737
6 PRKN p.Ala82Glu VAR_019738 rs55774500
7 PRKN p.Ala92Val VAR_019739 rs566229879
8 PRKN p.Lys161Asn VAR_019741 rs137853057
9 PRKN p.Lys211Asn VAR_019744 rs137853060
10 PRKN p.Cys212Tyr VAR_019746 rs137853058
11 PRKN p.Thr240Met VAR_019747 rs137853054
12 PRKN p.Thr240Arg VAR_019748 rs137853054
13 PRKN p.Arg256Cys VAR_019750 rs150562946
14 PRKN p.Arg275Trp VAR_019752 rs34424986
15 PRKN p.Gly284Arg VAR_019754 rs751037529
16 PRKN p.Cys289Gly VAR_019755 rs55961220
17 PRKN p.Gly328Glu VAR_019756
18 PRKN p.Thr351Pro VAR_019759
19 PRKN p.Thr415Asn VAR_019763 rs778125254
20 PRKN p.Gly430Asp VAR_019764 rs191486604
21 PRKN p.Cys431Phe VAR_019765 rs397514694
22 PRKN p.Pro437Leu VAR_019766 rs149953814
23 PRKN p.Cys441Arg VAR_019767 rs778305273
24 PRKN p.Val56Glu VAR_070078 rs137853059
25 PRKN p.Arg402Cys VAR_070079 rs55830907
26 PRKN p.Cys418Arg VAR_070080

Copy number variations for Parkinson Disease 2, Autosomal Recessive Juvenile from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 207846 6 161688579 163068824 Deletion PARK2 Early-onset parkinson disease

Expression for Parkinson Disease 2, Autosomal Recessive Juvenile

Search GEO for disease gene expression data for Parkinson Disease 2, Autosomal Recessive Juvenile.

Pathways for Parkinson Disease 2, Autosomal Recessive Juvenile

Pathways related to Parkinson Disease 2, Autosomal Recessive Juvenile according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 UCHL1 SNCA PRKN PINK1 PARK7 LRRK2
2
Show member pathways
12.34 UCHL1 SNCA PRKN PINK1 PARK7 HTRA2
3 12.09 UCHL1 SNCA PRKN PINK1 PARK7 LRRK2
4 11.09 UCHL1 SNCA PRKN PINK1 PARK7 LRRK2
5 10.96 UCHL1 SNCA PRKN PARK7

GO Terms for Parkinson Disease 2, Autosomal Recessive Juvenile

Cellular components related to Parkinson Disease 2, Autosomal Recessive Juvenile according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.34 VPS13C UCHL1 SNCA RAB3A PRKN PODXL
2 cytosol GO:0005829 10.27 VPS13C UCHL1 SNCA RAB3A PRKN PINK1
3 extracellular exosome GO:0070062 10.11 VPS13C PODXL PARK7 OMD MSRA MNDA
4 cell GO:0005623 9.91 VPS13C SNCA RAB3A PRKN PARK7 LRRK2
5 perinuclear region of cytoplasm GO:0048471 9.88 SNCA RAB3A PRKN PINK1 PARK7 CTSB
6 lysosome GO:0005764 9.85 SNCA RAB3A LRRK2 CTSB ATP13A2
7 mitochondrion GO:0005739 9.76 VPS13C SNCA PRKN PINK1 PARK7 MSRA
8 mitochondrial outer membrane GO:0005741 9.73 VPS13C SNCA PINK1 LRRK2
9 terminal bouton GO:0043195 9.65 SNCA RAB3A LRRK2
10 presynapse GO:0098793 9.56 SNCA PRKN PARK7 DNAJC6
11 inclusion body GO:0016234 9.54 SNCA LRRK2
12 Lewy body GO:0097413 9.32 PRKN PINK1
13 mitochondrial intermembrane space GO:0005758 9.26 SNCA PINK1 PARK7 HTRA2
14 axon GO:0030424 9.1 UCHL1 SNCA RAB3A PINK1 PARK7 LRRK2

Biological processes related to Parkinson Disease 2, Autosomal Recessive Juvenile according to GeneCards Suite gene sharing:

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.91 SNCA PRKN PINK1 PARK7
2 response to oxidative stress GO:0006979 9.88 PRKN PINK1 MSRA LRRK2
3 autophagy GO:0006914 9.85 PRKN PINK1 PARK7 LRRK2 ATP13A2
4 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.84 SNCA PINK1 PARK7
5 negative regulation of cell death GO:0060548 9.83 PRKN PARK7 HTRA2
6 negative regulation of protein phosphorylation GO:0001933 9.8 SNCA PRKN PARK7 LRRK2
7 regulation of dopamine secretion GO:0014059 9.76 SNCA RAB3A PRKN
8 regulation of mitochondrial membrane potential GO:0051881 9.74 PRKN PINK1 PARK7
9 adult locomotory behavior GO:0008344 9.73 SNCA PRKN PARK7 HTRA2
10 regulation of reactive oxygen species metabolic process GO:2000377 9.72 SNCA PRKN PINK1
11 positive regulation of exocytosis GO:0045921 9.71 SNCA RAB3A
12 regulation of neuron apoptotic process GO:0043523 9.71 PINK1 PARK7
13 regulation of mitochondrion organization GO:0010821 9.71 PRKN PINK1 ATP13A2
14 cellular response to interferon-beta GO:0035458 9.7 MNDA HTRA2
15 negative regulation of reactive oxygen species metabolic process GO:2000378 9.7 PRKN PINK1
16 regulation of neurotransmitter secretion GO:0046928 9.7 SNCA PRKN
17 regulation of neuron death GO:1901214 9.7 SNCA LRRK2
18 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.7 PRKN PARK7 LRRK2
19 cellular response to oxidative stress GO:0034599 9.7 SNCA PINK1 PARK7 MSRA LRRK2 HTRA2
20 regulation of protein ubiquitination GO:0031396 9.69 PRKN PINK1
21 positive regulation of mitochondrial fission GO:0090141 9.69 PRKN PINK1
22 synaptic vesicle transport GO:0048489 9.69 SNCA RAB3A
23 synaptic transmission, dopaminergic GO:0001963 9.69 SNCA PRKN PARK7
24 cellular protein catabolic process GO:0044257 9.68 PRKN HTRA2
25 negative regulation of oxidative stress-induced neuron death GO:1903204 9.68 PINK1 PARK7
26 cellular response to dopamine GO:1903351 9.68 PRKN LRRK2
27 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.68 PARK7 LRRK2
28 negative regulation of autophagosome assembly GO:1902902 9.67 PINK1 LRRK2
29 dopamine metabolic process GO:0042417 9.67 SNCA PRKN
30 negative regulation of macroautophagy GO:0016242 9.67 PINK1 LRRK2
31 regulation of cellular response to oxidative stress GO:1900407 9.65 PRKN PINK1
32 regulation of locomotion GO:0040012 9.65 SNCA LRRK2
33 positive regulation of autophagy of mitochondrion GO:1903599 9.65 PRKN PARK7
34 regulation of autophagy of mitochondrion GO:1903146 9.65 PINK1 HTRA2 ATP13A2
35 regulation of protein targeting to mitochondrion GO:1903214 9.64 PRKN PINK1
36 cellular response to toxic substance GO:0097237 9.64 PRKN PINK1
37 protein localization to mitochondrion GO:0070585 9.63 PRKN LRRK2
38 positive regulation of histone deacetylase activity GO:1901727 9.63 PINK1 LRRK2
39 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.62 PRKN PINK1
40 zinc ion homeostasis GO:0055069 9.62 PRKN ATP13A2
41 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.61 PRKN PARK7
42 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 9.6 PINK1 PARK7
43 mitochondrion to lysosome transport GO:0099074 9.59 PRKN PINK1
44 negative regulation of oxidative stress-induced cell death GO:1903202 9.58 PRKN PINK1 PARK7
45 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 9.56 PINK1 PARK7
46 cellular response to manganese ion GO:0071287 9.54 PRKN LRRK2 ATP13A2
47 dopamine uptake involved in synaptic transmission GO:0051583 9.5 SNCA PRKN PARK7
48 mitochondrion organization GO:0007005 9.5 VPS13C RAB3A PRKN PINK1 PARK7 LRRK2
49 regulation of synaptic vesicle transport GO:1902803 9.43 PRKN PINK1 LRRK2
50 negative regulation of neuron death GO:1901215 9.17 SNCA PRKN PINK1 PARK7 LRRK2 HTRA2

Molecular functions related to Parkinson Disease 2, Autosomal Recessive Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-specific protease binding GO:1990381 9.26 PRKN PARK7
2 phospholipase binding GO:0043274 9.16 SNCA PRKN
3 cuprous ion binding GO:1903136 8.96 SNCA PARK7
4 cupric ion binding GO:1903135 8.62 PARK7 ATP13A2

Sources for Parkinson Disease 2, Autosomal Recessive Juvenile

3 CDC
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11 DGIdb
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