PARK2
MCID: PRK089
MIFTS: 60

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
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
Parkinson's Disease 2 12
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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Chks in Checkpoint Regulation. The drugs Rifaximin and Carbon monoxide have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and liver, and related phenotypes are rigidity and depressivity

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 227)
# Related Disease Score Top Affiliating Genes
1 atypical juvenile parkinsonism 33.8 PODXL DNAJC6
2 parkinson disease 6, autosomal recessive early-onset 33.6 PINK1 PARK7
3 kufor-rakeb syndrome 31.4 SNCA PRKN PINK1 PARK7 LRRK2
4 parkinson disease 15, autosomal recessive early-onset 30.7 SNCA PRKN PINK1 PARK7 LRRK2
5 dystonia 29.9 PRKN PINK1 PARK7 LRRK2
6 hereditary late-onset parkinson disease 29.2 SNCA LRRK2
7 lrrk2 parkinson disease 29.1 SNCA PRKN LRRK2
8 tremor 29.0 SNCA PRKN LRRK2 HTRA2
9 rem sleep behavior disorder 29.0 SNCA LRRK2
10 autosomal dominant cerebellar ataxia 28.9 SNCA PRKN LRRK2
11 movement disease 28.8 SNCA PRKN PINK1 PARK7 LRRK2
12 multiple system atrophy 1 28.7 SNCA PRKN LRRK2
13 motor neuron disease 28.6 UCHL1 SNCA PRKN
14 aceruloplasminemia 28.4 VPS13C SNCA PINK1 PARK7
15 essential tremor 28.4 SNCA PRKN LRRK2 HTRA2
16 early-onset parkinson's disease 28.4 VPS13C SNCA PRKN PINK1 PARK7 LRRK2
17 parkinson disease, late-onset 28.3 VPS13C UCHL1 SNCA PRKN PODXL PINK1
18 juvenile-onset parkinson's disease 28.1 SNCA PRKN PINK1 PARK7 LRRK2 DNAJC6
19 alzheimer disease 27.5 UCHL1 SNCA PRKN PINK1 LRRK2
20 dementia, lewy body 27.4 UCHL1 SNCA PRKN PINK1 PARK7 LRRK2
21 amyotrophic lateral sclerosis 1 27.0 UCHL1 SNCA PRKN PINK1 PARK7 LRRK2
22 pink1 type of young-onset parkinson disease 12.7
23 juvenile polyposis syndrome 12.5
24 obsolete: levodopa-unresponsive juvenile parkinsonism 12.3
25 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.3
26 obsolete: juvenile parkinsonism with intellectual disability due to dnajc6 deficiency 12.3
27 parkinson disease 20, early-onset 12.3
28 parkinson disease 23, autosomal recessive early-onset 12.2
29 parkinson disease 7, autosomal recessive early-onset 12.1
30 parkinson disease 19a, juvenile-onset 11.8
31 waisman syndrome 11.7
32 perry syndrome 11.3
33 hyperphenylalaninemia, mild, non-bh4-deficient 11.2
34 periodontitis, aggressive, 1 11.2
35 leprosy 3 10.4
36 hansen's disease 10.4
37 parkin type of early-onset parkinson disease 10.4
38 hereditary hemorrhagic telangiectasia 10.3
39 telangiectasis 10.3
40 hypoglycemia 10.3
41 autism spectrum disorder 10.3
42 plague 10.3
43 digeorge syndrome 10.2
44 parkinson disease 8, autosomal dominant 10.2
45 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
46 thyroxine-binding globulin quantitative trait locus 10.2
47 inherited thyroxine-binding globulin deficiency 10.2
48 autism 10.2
49 lung cancer 10.1
50 migraine with or without aura 1 10.1

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 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002063
2 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
3 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
4 hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0000738
5 dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0100660
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 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
11 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
12 gait imbalance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002141
13 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
14 gastroparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002578
15 impaired social interactions 58 31 occasional (7.5%) Occasional (29-5%) HP:0000735
16 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
17 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
18 insomnia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100785
19 bradykinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002067
20 hyposmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004409
21 nausea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002018
22 abnormal autonomic nervous system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012332
23 restless legs 58 31 occasional (7.5%) Occasional (29-5%) HP:0012452
24 panic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0025269
25 female sexual dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0030014
26 male sexual dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0040307
27 muscle spasm 31 occasional (7.5%) HP:0003394
28 color vision defect 31 occasional (7.5%) HP:0000551
29 diplopia 58 31 very rare (1%) Very rare (<4-1%) HP:0000651
30 agitation 58 31 very rare (1%) Very rare (<4-1%) HP:0000713
31 impulsivity 58 31 very rare (1%) Very rare (<4-1%) HP:0100710
32 frontal lobe dementia 58 31 very rare (1%) Very rare (<4-1%) HP:0000727
33 gait disturbance 31 HP:0001288
34 cognitive impairment 58 Occasional (29-5%)
35 muscle cramps 58 Occasional (29-5%)
36 dementia 58 Occasional (29-5%)
37 abnormality of color vision 58 Occasional (29-5%)
38 parkinsonism 31 HP:0001300
39 substantia nigra gliosis 31 HP:0011960

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

600116

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


tremor, bradykinesia, muscle rigidity

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 HTRA2 LRRK2 PINK1 PRKN SNCA UCHL1
2 homeostasis/metabolism MP:0005376 9.56 HTRA2 LRRK2 PARK7 PINK1 PRKN SNCA
3 nervous system MP:0003631 9.23 DNAJC6 HTRA2 LRRK2 PARK7 PINK1 PRKN

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 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifaximin Approved, Investigational Phase 1, Phase 2 80621-81-4 6436173 46783403
2
Carbon monoxide Approved, Investigational Phase 1, Phase 2 630-08-0 281
3
Sodium citrate Approved, Investigational Phase 2 68-04-2
4
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
5 Gastrointestinal Agents Phase 1, Phase 2
6 Anti-Bacterial Agents Phase 1, Phase 2
7 Anti-Infective Agents Phase 1, Phase 2
8 Neurotransmitter Agents Phase 1, Phase 2
9 Antimetabolites Phase 1, Phase 2
10 Sympathomimetics Phase 2
11 Autonomic Agents Phase 2
12 Protective Agents Phase 2
13 Citrate Phase 2
14 Vasodilator Agents Phase 2
15 Phosphodiesterase 5 Inhibitors Phase 2
16 Sildenafil Citrate Phase 2 171599-83-0
17 Phosphodiesterase Inhibitors Phase 2
18
Cabergoline Approved 81409-90-7 54746
19
Dopamine Approved 51-61-6, 62-31-7 681
20
Levodopa Approved 59-92-7 6047
21
Carbidopa Approved 28860-95-9 34359
22
tannic acid Approved 1401-55-4
23
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
24 Dopamine Agents
25 Antiparkinson Agents
26 Dopamine agonists
27 Adjuvants, Immunologic
28 Carbidopa, levodopa drug combination
29 Immunologic Factors
30 insulin
31 Insulin, Globin Zinc

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 Observational Study to Investigate the Prevalence of Cardiac Abnormalities and Valvular Regurgitation in Patients With Prolactinomas Treated Chronically With Cabergoline Completed NCT00460616 Cabergoline
12 Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers Recruiting NCT03234478
13 Biomarker Analysis for Parkinson's Disease in Subjects With Glucocerebrosidase Mutations Recruiting NCT03811496
14 Pilotstudy to Develop a Guideline for Hometitration With Doudopa for Patients With Parkinson Disease Recruiting NCT04196647
15 The Effect of Whole Body Vibration on Sensorimotor Function in Individuals With Parkinson's Disease Recruiting NCT03777501
16 The Effect of Kinesiophobia on Physical Activity, Balance and Falling in Parkinson's Disease Patients Active, not recruiting NCT03827746
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, Lung, Liver, Myeloid, Bone, Prostate

Publications for Parkinson Disease 2, Autosomal Recessive Juvenile

Articles related to Parkinson Disease 2, Autosomal Recessive Juvenile:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil. 56 6
16328510 2006
2
Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. 56 6
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. 56 6
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. 56 6
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. 56 6
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
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
20
A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2. 56
20876472 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
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. 6
18364387 2008
27
The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells. 6
18411255 2008
28
Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. 6
18401856 2008
29
Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method. 56
18413468 2008
30
Pink1 Parkinson mutations, the Cdc37/Hsp90 chaperones and Parkin all influence the maturation or subcellular distribution of Pink1. 6
18003639 2008
31
Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. 56
17187375 2007
32
T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. 6
17030667 2006
33
Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. 6
16966503 2006
34
Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? 6
16769864 2006
35
UCHL-1 is not a Parkinson's disease susceptibility gene. 6
16450370 2006
36
Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations. 6
16476817 2006
37
Differential expression of splice variant and wild-type parkin in sporadic Parkinson's disease. 6
16086186 2005
38
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. 6
16207731 2005
39
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. 6
16240358 2005
40
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. 6
15970950 2005
41
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. 6
16049031 2005
42
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 6
15961413 2005
43
Reduced amplitude of the sural nerve sensory action potential in PARK2 patients. 56
16087916 2005
44
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. 6
15955953 2005
45
Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. 6
15824318 2005
46
Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation. 56
15642918 2005
47
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). 6
15365989 2004
48
Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. 6
15349871 2004
49
Novel PINK1 mutations in early-onset parkinsonism. 6
15349870 2004
50
Parkin-positive autosomal recessive juvenile Parkinsonism with alpha-synuclein-positive inclusions. 56
15326242 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 75) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRKN NM_004562.2(PRKN):c.172-?_871+?deldeletion Pathogenic 7034 6:162206804-162683797 6:161785772-162262765
2 PRKN NM_004562.2(PRKN):c.413-?_534+?deldeletion Pathogenic 7035 6:162622163-162622284 6:162201131-162201252
3 PRKN NM_004562.3(PRKN):c.719C>G (p.Thr240Arg)SNV Pathogenic 7036 rs137853054 6:162394349-162394349 6:161973317-161973317
4 PRKN NM_004562.3(PRKN):c.931C>T (p.Gln311Ter)SNV Pathogenic 7037 rs137853055 6:161990389-161990389 6:161569357-161569357
5 PRKN NM_004562.3(PRKN):c.483A>T (p.Lys161Asn)SNV Pathogenic 7043 rs137853057 6:162622214-162622214 6:162201182-162201182
6 PRKN PARK2, 1-BP DEL, 202Adeletion Pathogenic 7044
7 PRKN NM_004562.2(PRKN):c.735-?_871+?deldeletion Pathogenic 7045 6:162206804-162206940 6:161785772-161785908
8 PRKN NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)SNV Pathogenic 7046 rs137853058 6:162394433-162394433 6:161973401-161973401
9 PRKN PARK2, 1-BP DEL, 255Adeletion Pathogenic 7048
10 PRKN NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)SNV Pathogenic 7050 rs34424986 6:162206852-162206852 6:161785820-161785820
11 PRKN NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)SNV Pathogenic 7051 rs137853060 6:162394435-162394435 6:161973403-161973403
12 PRKN PARK2, 1-BP DEL, 1072Tdeletion Pathogenic 7052
13 PRKN NM_004562.3(PRKN):c.7+1G>TSNV Pathogenic 7053 rs397518439 6:163148693-163148693 6:162727661-162727661
14 PRKN PARK2, EX5-6DELdeletion Pathogenic 7055
15 PRKN NM_004562.2(PRKN):c.8-?_171+?deldeletion Pathogenic 7040 6:162864342-162864505 6:162443310-162443473
16 PRKN NM_004562.2(PRKN):c.872-?_1083+?deldeletion Pathogenic 7041 6:161969886-161990448 6:161548854-161569416
17 PRKN NC_000006.11:g.(?_162622163)_(162864505_?)deldeletion Pathogenic 417459 6:162622163-162864505 6:162201131-162443473
18 PRKN deletion Pathogenic 468581 6:162262505-162443493
19 PRKN NC_000006.11:g.(?_162622143)_(162622304_?)deldeletion Pathogenic 468578 6:162201111-162201272
20 PRKN deletion Pathogenic 468580 6:162262505-162262785
21 PRKN NC_000006.11:g.(?_162864322)_(162864525_?)dupduplication Pathogenic 468582 6:162864322-162864525 6:162443290-162443493
22 PRKN NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe)SNV Pathogenic 50354 rs397514694 6:161771237-161771237 6:161350205-161350205
23 PRKN NC_000006.11:g.(?_162475123)_(162475206_?)deldeletion Pathogenic 417464 6:162475123-162475206 6:162054091-162054174
24 PRKN NM_004562.3(PRKN):c.850G>C (p.Gly284Arg)SNV Pathogenic 409266 rs751037529 6:162206825-162206825 6:161785793-161785793
25 PRKN NC_000006.11:g.(?_162622143)_(162683817_?)deldeletion Pathogenic 468579 6:162622143-162683817 6:162201111-162262785
26 PRKN NM_004562.3(PRKN):c.155del (p.Asn52fs)deletion Pathogenic 536457 rs754809877 6:162864358-162864358 6:162443326-162443326
27 PRKN NC_000006.11:g.(?_162206784)_(162394469_?)deldeletion Pathogenic 536459 6:162206784-162394469 6:161785752-161973437
28 PRKN NC_000006.11:g.(?_161990367)_(161990468_?)deldeletion Pathogenic 583674 6:161990367-161990468 6:161569335-161569436
29 PRKN NM_004562.3(PRKN):c.560T>G (p.Leu187Ter)SNV Pathogenic 582111 rs1562485799 6:162475181-162475181 6:162054149-162054149
30 PRKN NC_000006.11:g.(?_162394314)_(162475226_?)dupduplication Pathogenic 583917 6:162394314-162475226 6:161973282-162054194
31 PRKN NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)SNV Pathogenic 578186 rs147757966 6:162864415-162864415 6:162443383-162443383
32 PRKN NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr)SNV Pathogenic 645725 6:162206917-162206917 6:161785885-161785885
33 PRKN NM_004562.3(PRKN):c.125G>C (p.Arg42Pro)SNV Pathogenic 644125 6:162864388-162864388 6:162443356-162443356
34 PRKN NC_000006.11:g.(?_162683547)_(162683807_?)deldeletion Pathogenic 654668 6:162683547-162683807 6:162262515-162262775
35 PRKN NC_000006.11:g.(?_162206784)_(162206960_?)dupduplication Pathogenic 639364 6:162206784-162206960 6:161785752-161785928
36 PRKN NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)SNV Pathogenic/Likely pathogenic 356016 rs191486604 6:161771240-161771240 6:161350208-161350208
37 PRKN NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter)SNV Likely pathogenic 7042 rs137853056 6:161771171-161771171 6:161350139-161350139
38 PODXL NM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs)insertion Likely pathogenic 218942 rs1554391082 7:131241029-131241030 7:131556270-131556271
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.719C>T (p.Thr240Met)SNV Conflicting interpretations of pathogenicity 7054 rs137853054 6:162394349-162394349 6:161973317-161973317
43 PRKN NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)SNV Conflicting interpretations of pathogenicity 7038 rs55774500 6:162683724-162683724 6:162262692-162262692
44 PRKN NM_004562.3(PRKN):c.167T>A (p.Val56Glu)SNV Uncertain significance 7047 rs137853059 6:162864346-162864346 6:162443314-162443314
45 PRKN NC_000006.11:g.(?_161768590)_(162475206_?)dupduplication Uncertain significance 417462 6:161768590-162475206 6:161347558-162054174
46 PRKN NC_000006.11:g.(?_162622163)_(162622284_?)dupduplication Uncertain significance 417461 6:162622163-162622284 6:162201131-162201252
47 PRKN NM_004562.3(PRKN):c.443T>A (p.Val148Glu)SNV Uncertain significance 409269 rs1060502319 6:162622254-162622254 6:162201222-162201222
48 PRKN NM_004562.3(PRKN):c.172-9C>GSNV Uncertain significance 409271 rs758769558 6:162683806-162683806 6:162262774-162262774
49 PRKN NM_004562.3(PRKN):c.1330G>C (p.Glu444Gln)SNV Uncertain significance 468585 rs772592654 6:161771199-161771199 6:161350167-161350167
50 PRKN NM_004562.3(PRKN):c.730G>A (p.Val244Ile)SNV Uncertain significance 468588 rs771259513 6:162394338-162394338 6:161973306-161973306

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

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 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.15 VPS13C UCHL1 SNCA PRKN PODXL PINK1
2 cytosol GO:0005829 10.06 VPS13C UCHL1 SNCA PRKN PINK1 PARK7
3 endoplasmic reticulum GO:0005783 9.95 UCHL1 PRKN PARK7 LRRK2 HTRA2
4 cell GO:0005623 9.91 VPS13C SNCA PRKN PARK7 LRRK2
5 perinuclear region of cytoplasm GO:0048471 9.84 SNCA PRKN PINK1 PARK7
6 mitochondrion GO:0005739 9.8 VPS13C SNCA PRKN PINK1 PARK7 LRRK2
7 membrane raft GO:0045121 9.7 PODXL PARK7 LRRK2
8 growth cone GO:0030426 9.63 SNCA PINK1 LRRK2
9 mitochondrial outer membrane GO:0005741 9.62 VPS13C SNCA PINK1 LRRK2
10 chromatin GO:0000785 9.61 PINK1 PARK7 HTRA2
11 terminal bouton GO:0043195 9.56 SNCA LRRK2
12 inclusion body GO:0016234 9.48 SNCA LRRK2
13 presynapse GO:0098793 9.46 SNCA PRKN PARK7 DNAJC6
14 Lewy body GO:0097413 9.37 PRKN PINK1
15 axon GO:0030424 9.35 UCHL1 SNCA PINK1 PARK7 LRRK2
16 mitochondrial intermembrane space GO:0005758 8.92 SNCA PINK1 PARK7 HTRA2

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

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.89 PRKN PINK1 PARK7
2 protein stabilization GO:0050821 9.87 PRKN PINK1 PARK7
3 autophagy GO:0006914 9.85 PRKN PINK1 PARK7 LRRK2
4 response to oxidative stress GO:0006979 9.83 PRKN PINK1 LRRK2
5 negative regulation of neuron apoptotic process GO:0043524 9.83 SNCA PRKN PINK1 PARK7
6 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.81 SNCA PINK1 PARK7
7 negative regulation of cell death GO:0060548 9.78 PRKN PARK7 HTRA2
8 negative regulation of protein phosphorylation GO:0001933 9.73 SNCA PRKN PARK7 LRRK2
9 response to ischemia GO:0002931 9.72 UCHL1 PINK1
10 protein destabilization GO:0031648 9.72 SNCA PRKN
11 autophagy of mitochondrion GO:0000422 9.71 PRKN PINK1
12 activation of protein kinase B activity GO:0032148 9.71 PINK1 PARK7
13 regulation of dopamine secretion GO:0014059 9.71 SNCA PRKN
14 regulation of canonical Wnt signaling pathway GO:0060828 9.71 PRKN LRRK2
15 adult walking behavior GO:0007628 9.71 UCHL1 HTRA2
16 positive regulation of protein targeting to mitochondrion GO:1903955 9.7 PINK1 HTRA2
17 negative regulation of JNK cascade GO:0046329 9.7 PRKN PINK1
18 regulation of neuron apoptotic process GO:0043523 9.7 PINK1 PARK7
19 negative regulation of reactive oxygen species metabolic process GO:2000378 9.69 PRKN PINK1
20 regulation of neurotransmitter secretion GO:0046928 9.69 SNCA PRKN
21 regulation of neuron death GO:1901214 9.69 SNCA LRRK2
22 regulation of mitochondrial membrane potential GO:0051881 9.69 PRKN PINK1 PARK7
23 cellular protein catabolic process GO:0044257 9.68 PRKN HTRA2
24 regulation of protein ubiquitination GO:0031396 9.68 PRKN PINK1
25 regulation of mitochondrion organization GO:0010821 9.68 PRKN PINK1
26 regulation of autophagy of mitochondrion GO:1903146 9.68 PINK1 HTRA2
27 cellular response to dopamine GO:1903351 9.67 PRKN LRRK2
28 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.67 PARK7 LRRK2
29 negative regulation of oxidative stress-induced neuron death GO:1903204 9.67 PINK1 PARK7
30 regulation of reactive oxygen species metabolic process GO:2000377 9.67 SNCA PRKN PINK1
31 adult locomotory behavior GO:0008344 9.67 SNCA PRKN PARK7 HTRA2
32 negative regulation of autophagosome assembly GO:1902902 9.66 PINK1 LRRK2
33 positive regulation of mitochondrial fission GO:0090141 9.66 PRKN PINK1
34 dopamine metabolic process GO:0042417 9.65 SNCA PRKN
35 negative regulation of macroautophagy GO:0016242 9.65 PINK1 LRRK2
36 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.65 PRKN PARK7 LRRK2
37 cellular response to manganese ion GO:0071287 9.64 PRKN LRRK2
38 regulation of locomotion GO:0040012 9.63 SNCA LRRK2
39 positive regulation of autophagy of mitochondrion GO:1903599 9.63 PRKN PARK7
40 synaptic transmission, dopaminergic GO:0001963 9.63 SNCA PRKN PARK7
41 regulation of protein targeting to mitochondrion GO:1903214 9.62 PRKN PINK1
42 cellular response to toxic substance GO:0097237 9.62 PRKN PINK1
43 protein localization to mitochondrion GO:0070585 9.61 PRKN LRRK2
44 positive regulation of histone deacetylase activity GO:1901727 9.6 PINK1 LRRK2
45 regulation of cellular response to oxidative stress GO:1900407 9.59 PRKN PINK1
46 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.58 PRKN PINK1
47 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.58 PRKN PARK7
48 negative regulation of oxidative stress-induced cell death GO:1903202 9.58 PRKN PINK1 PARK7
49 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 9.57 PINK1 PARK7
50 mitochondrion to lysosome transport GO:0099074 9.56 PRKN PINK1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.65 SNCA PRKN PARK7 LRRK2 HTRA2
2 protein-containing complex binding GO:0044877 9.63 PRKN PINK1 PARK7
3 ubiquitin protein ligase binding GO:0031625 9.61 UCHL1 PRKN PINK1
4 magnesium ion binding GO:0000287 9.5 SNCA PINK1 LRRK2
5 clathrin binding GO:0030276 9.4 LRRK2 DNAJC6
6 Hsp70 protein binding GO:0030544 9.37 SNCA PRKN
7 ubiquitin-specific protease binding GO:1990381 9.16 PRKN PARK7
8 phospholipase binding GO:0043274 8.96 SNCA PRKN
9 cuprous ion binding GO:1903136 8.62 SNCA PARK7

Sources for Parkinson Disease 2, Autosomal Recessive Juvenile

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