MCID: ERL056
MIFTS: 38

Early-Onset Parkinson's Disease

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

Aliases & Classifications for Early-Onset Parkinson's Disease

MalaCards integrated aliases for Early-Onset Parkinson's Disease:

Name: Early-Onset Parkinson's Disease 12 15
Early-Onset Parkinson Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060894

Summaries for Early-Onset Parkinson's Disease

Disease Ontology : 12 A Parkinson's disease characterized by onset of motor symptoms early than typically seen, usually prior to 50 years of age.

MalaCards based summary : Early-Onset Parkinson's Disease, also known as early-onset parkinson disease, is related to parkinson disease 6, autosomal recessive early-onset and parkinson disease 15, autosomal recessive early-onset. An important gene associated with Early-Onset Parkinson's Disease is PINK1 (PTEN Induced Kinase 1), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Neuroscience. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and cortex, and related phenotypes are behavior/neurological and cellular

Related Diseases for Early-Onset Parkinson's Disease

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
Parkinson Disease Type 9 Hereditary Late-Onset Parkinson Disease

Diseases related to Early-Onset Parkinson's Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 parkinson disease 6, autosomal recessive early-onset 34.1 PINK1 PARK7
2 parkinson disease 15, autosomal recessive early-onset 32.2 SNCA PRKN PLA2G6 ATP13A2
3 kufor-rakeb syndrome 32.1 PLA2G6 ATP13A2
4 juvenile-onset parkinson's disease 31.2 PLA2G6 DNAJC6 ATP13A2
5 postencephalitic parkinson disease 30.1 SNCA LRRK2
6 parkinson disease 2, autosomal recessive juvenile 30.1 VPS13C SNCA PRKN PINK1 PARK7 LRRK2
7 tremor 30.0 SNCA PRKN LRRK2 GBA
8 hereditary late-onset parkinson disease 30.0 SNCA LRRK2 GBA
9 essential tremor 29.9 SNCA PRKN LRRK2
10 gaucher's disease 29.7 SNCA PRKN GBA
11 parkinson disease 3, autosomal dominant 29.6 SNCA PRKN PARK7 LRRK2
12 neurodegeneration with brain iron accumulation 29.2 SNCA PLA2G6 ATP13A2
13 dementia, lewy body 28.9 SNCA PRKN PARK7 LRRK2 GBA
14 movement disease 28.3 SNCA PRKN PINK1 PARK7 LRRK2 GCH1
15 parkinson disease, late-onset 26.0 VPS13C SNCA RAB39B PRKN PINK1 PARK7
16 parkinson disease 7, autosomal recessive early-onset 12.0
17 parkinson disease 19a, juvenile-onset 11.9
18 waisman syndrome 11.7
19 parkinson disease 23, autosomal recessive early-onset 11.7
20 parkinson disease 20, early-onset 11.5
21 dystonia 10.4
22 parkin type of early-onset parkinson disease 10.4
23 muscular dystrophy, congenital, megaconial type 10.4 PRKN PINK1
24 rem sleep behavior disorder 10.1 SNCA LRRK2
25 dysautonomia 10.1 SNCA GBA
26 alacrima, achalasia, and mental retardation syndrome 10.1
27 digeorge syndrome 10.1
28 pink1 type of young-onset parkinson disease 10.1
29 multiple system atrophy 1 10.0 SNCA PRKN LRRK2
30 parkinson disease 1, autosomal dominant 9.9
31 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 9.9
32 helix syndrome 9.9
33 autoimmune disease 9.9
34 candidiasis, familial, 1 9.9
35 dystonia, dopa-responsive 9.9
36 gaucher disease, type i 9.9
37 gaucher disease, type ii 9.9
38 gaucher disease, type iii 9.9
39 hyperphenylalaninemia, bh4-deficient, b 9.9
40 ataxia and polyneuropathy, adult-onset 9.9
41 parkinson disease 8, autosomal dominant 9.9
42 spastic paraplegia 7, autosomal recessive 9.9
43 hypoparathyroidism 9.9
44 social phobia 9.9
45 pathological gambling 9.9
46 autosomal dominant cerebellar ataxia 9.9
47 agoraphobia 9.9
48 eating disorder 9.9
49 cleft lip 9.9
50 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 9.9

Graphical network of the top 20 diseases related to Early-Onset Parkinson's Disease:



Diseases related to Early-Onset Parkinson's Disease

Symptoms & Phenotypes for Early-Onset Parkinson's Disease

MGI Mouse Phenotypes related to Early-Onset Parkinson's Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 ATP13A2 GBA LRRK2 PARK7 PINK1 PLA2G6
2 cellular MP:0005384 9.76 ATP13A2 GBA LRRK2 PARK7 PINK1 PLA2G6
3 homeostasis/metabolism MP:0005376 9.61 GBA GCH1 LRRK2 PARK7 PINK1 PLA2G6
4 nervous system MP:0003631 9.32 ATP13A2 DNAJC6 GBA GCH1 LRRK2 PARK7

Drugs & Therapeutics for Early-Onset Parkinson's Disease

Drugs for Early-Onset Parkinson's Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin
2 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Epidemiology of Parkinson's Disease Unknown status NCT00104585
2 Hereditary Parkinson's Disease Natural History Protocol Completed NCT02511015
3 The Chinese Early-onset Parkinson's Disease Registry Recruiting NCT03508960
4 Parkinson's Families Project Recruiting NCT02760108
5 Decrement of the Dual-task Performance in Individuals With Young-onset Parkinson's Disease and the Training Effects Not yet recruiting NCT04033393
6 Metabolic Phenotyping of Subjects With Mutations Associated With Hereditary Parkinson's Disease Terminated NCT01547832

Search NIH Clinical Center for Early-Onset Parkinson's Disease

Genetic Tests for Early-Onset Parkinson's Disease

Anatomical Context for Early-Onset Parkinson's Disease

MalaCards organs/tissues related to Early-Onset Parkinson's Disease:

41
Brain, Skin, Cortex, Breast, Prostate, Lung, Eye

Publications for Early-Onset Parkinson's Disease

Articles related to Early-Onset Parkinson's Disease:

(show top 50) (show all 451)
# Title Authors PMID Year
1
Neurobiological perspective of 22q11.2 deletion syndrome. 38
31395526 2019
2
Expanding the canvas of PRKN mutations in familial and early-onset Parkinson disease. 38
31409571 2019
3
Han Chinese family with early-onset Parkinson's disease carries novel compound heterozygous mutations in the PARK2 gene. 38
31386307 2019
4
Case of Early-Onset Parkinson's Disease in a Heterozygous Mutation Carrier of the ATP7B Gene. 38
31426520 2019
5
Pink1 regulates FKBP5 interaction with AKT/PHLPP and protects neurons from neurotoxin stress induced by MPP. 38
30734931 2019
6
Therapeutic approaches to enhance PINK1/Parkin mediated mitophagy for the treatment of Parkinson's disease. 38
30995519 2019
7
PARK14 (D331Y) PLA2G6 Causes Early-Onset Degeneration of Substantia Nigra Dopaminergic Neurons by Inducing Mitochondrial Dysfunction, ER Stress, Mitophagy Impairment and Transcriptional Dysregulation in a Knockin Mouse Model. 38
30088174 2019
8
Asymptomatic Hearing Impairment Frequently Occurs in Early-Onset Parkinson's Disease. 38
30944288 2019
9
Reprogramming of a human induced pluripotent stem cell (iPSC) line (IBMSi012-A) from an early-onset Parkinson's disease patient harboring a homozygous p.D331Y mutation in the PLA2G6 gene. 38
30978640 2019
10
The Landscape of Parkin Variants Reveals Pathogenic Mechanisms and Therapeutic Targets in Parkinson's Disease. 38
30994895 2019
11
Protein damage, ageing and age-related diseases. 38
30914006 2019
12
Reciprocal Roles of Tom7 and OMA1 during Mitochondrial Import and Activation of PINK1. 38
30733118 2019
13
Label-free detection of early oligomerization of α-synuclein and its mutants A30P/E46K through solid-state nanopores. 38
30892349 2019
14
RNAi-mediated knockdown of DJ-1 leads to mitochondrial dysfunction via Akt/GSK-3ß and JNK signaling pathways in dopaminergic neuron-like cells. 38
30634017 2019
15
Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update. 38
30928208 2019
16
Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease. 38
30502028 2019
17
Compound heterozygous mutations in PARK2 causing early-onset Parkinson disease: A case report. 38
30702579 2019
18
Different patterns of gray matter density in early- and middle-late-onset Parkinson's disease: a voxel-based morphometry study. 38
28667375 2019
19
A30P mutant α-synuclein impairs autophagic flux by inactivating JNK signaling to enhance ZKSCAN3 activity in midbrain dopaminergic neurons. 38
30755581 2019
20
Mitochondrial Protein PINK1 Positively Regulates RLR Signaling. 38
31139191 2019
21
Early Dyskinesias in Parkinson's Disease Patients With Parkin Mutation: A Primary Corticostriatal Synaptopathy? 38
30971883 2019
22
Parkin inhibits BAK and BAX apoptotic function by distinct mechanisms during mitophagy. 38
30573668 2019
23
22q11.2 Deletion Syndrome-Associated Parkinson's Disease. 38
30746410 2019
24
Utility and implications of exome sequencing in early-onset Parkinson's disease. 38
30537300 2019
25
Haplotype Analysis on the Relationship of the DNAJC6 Gene with Early-Onset Parkinson's Disease Risk in a Chinese Population. 38
30373961 2019
26
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder. 38
31191442 2019
27
Synergistic recruitment of UbcH7~Ub and phosphorylated Ubl domain triggers parkin activation. 38
30446597 2018
28
Chemical Strategies for Activating PINK1, a Protein Kinase Mutated in Parkinson's Disease. 38
30248222 2018
29
Molecular characterization of PRKN structural variations identified through whole-genome sequencing. 38
30328284 2018
30
Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction. 38
30338296 2018
31
Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease. 38
30232368 2018
32
Loss of the mitochondrial kinase PINK1 does not alter platelet function. 38
30258205 2018
33
Parkin and PINK1 mitigate STING-induced inflammation. 38
30135585 2018
34
Parkin-dependent regulation of the MCU complex component MICU1. 38
30242232 2018
35
A mouse model of 22q11.2 deletions: Molecular and behavioral signatures of Parkinson's disease and schizophrenia. 38
30116778 2018
36
Siblings with unusual presentation of early onset Parkinson's disease with dual heterozygous PARK2 and PARK 9 mutation. 38
29606608 2018
37
[Deep brain stimulation in parkinsonian patients with dopa intolerance]. 38
29089239 2018
38
Alterations in the E3 ligases Parkin and CHIP result in unique metabolic signaling defects and mitochondrial quality control issues. 38
28851515 2018
39
Analysis of neuronal phosphoproteome reveals PINK1 regulation of BAD function and cell death. 38
29234155 2018
40
Quantitative Analysis of Catecholamines in the Pink1 -/- Rat Model of Early-onset Parkinson's Disease. 38
29496635 2018
41
PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease. 38
29655942 2018
42
Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN. 38
29577677 2018
43
Behavioral addictions in early-onset Parkinson disease are associated with DRD3 variants. 38
29361389 2018
44
Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease. 38
29499499 2018
45
Sulfotransferase 1A3/4 copy number variation is associated with neurodegenerative disease. 38
28374858 2018
46
The Anthelmintic Drug Niclosamide and Its Analogues Activate the Parkinson's Disease Associated Protein Kinase PINK1. 38
29226533 2018
47
Abnormal visual gain control and excitotoxicity in early-onset Parkinson's disease Drosophila models. 38
29142100 2018
48
Parkinson's disease with hypocalcaemia: adult presentation of 22q11.2 deletion syndrome. 38
29572372 2018
49
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease. 38
28862745 2018
50
LRRK2 Expression Is Deregulated in Fibroblasts and Neurons from Parkinson Patients with Mutations in PINK1. 38
27975167 2018

Variations for Early-Onset Parkinson's Disease

Expression for Early-Onset Parkinson's Disease

Search GEO for disease gene expression data for Early-Onset Parkinson's Disease.

Pathways for Early-Onset Parkinson's Disease

Pathways related to Early-Onset Parkinson's Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 SNCA PRKN PINK1 PARK7
2 11.97 SNCA PRKN PINK1 PARK7 LRRK2 ATP13A2
3 10.95 SNCA PRKN PINK1 PARK7 LRRK2
4 10.84 SNCA PRKN PARK7

GO Terms for Early-Onset Parkinson's Disease

Cellular components related to Early-Onset Parkinson's Disease according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.8 VPS13C SNCA PRKN PLA2G6 PINK1 PARK7
2 axon GO:0030424 9.73 SNCA PINK1 PARK7 LRRK2
3 lysosome GO:0005764 9.71 SNCA LRRK2 GBA ATP13A2
4 vesicle GO:0031982 9.69 RAB39B DNAJC6 ATP13A2
5 growth cone GO:0030426 9.63 SNCA PINK1 LRRK2
6 mitochondrial intermembrane space GO:0005758 9.54 SNCA PINK1 PARK7
7 inclusion body GO:0016234 9.48 SNCA LRRK2
8 mitochondrial outer membrane GO:0005741 9.46 VPS13C SNCA PINK1 LRRK2
9 neuron projection GO:0043005 9.35 RAB39B PRKN PARK7 LRRK2 ATP13A2
10 Lewy body GO:0097413 9.32 PRKN PINK1
11 presynapse GO:0098793 8.92 SNCA PRKN PARK7 DNAJC6
12 cytosol GO:0005829 10.15 VPS13C SNCA PRKN PLA2G6 PINK1 PARK7

Biological processes related to Early-Onset Parkinson's Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.89 PLA2G6 PINK1 LRRK2
2 protein stabilization GO:0050821 9.89 PRKN PINK1 PARK7
3 negative regulation of neuron apoptotic process GO:0043524 9.88 SNCA PRKN PINK1 PARK7
4 response to oxidative stress GO:0006979 9.87 PRKN PINK1 LRRK2
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.84 SNCA PINK1 PARK7
6 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.82 PRKN LRRK2 GBA
7 regulation of autophagy GO:0010506 9.81 RAB39B PRKN LRRK2
8 autophagy GO:0006914 9.8 RAB39B PRKN PINK1 PARK7 LRRK2
9 adult locomotory behavior GO:0008344 9.78 SNCA PRKN PARK7
10 negative regulation of protein phosphorylation GO:0001933 9.76 SNCA PRKN PARK7 LRRK2
11 autophagy of mitochondrion GO:0000422 9.73 PRKN PINK1
12 activation of protein kinase B activity GO:0032148 9.73 PINK1 PARK7
13 regulation of canonical Wnt signaling pathway GO:0060828 9.72 PRKN LRRK2
14 regulation of dopamine secretion GO:0014059 9.72 SNCA PRKN
15 positive regulation of release of cytochrome c from mitochondria GO:0090200 9.72 PLA2G6 PINK1
16 negative regulation of JNK cascade GO:0046329 9.72 PRKN PINK1
17 positive regulation of protein dephosphorylation GO:0035307 9.71 PINK1 GBA
18 response to interferon-gamma GO:0034341 9.71 SNCA GCH1
19 regulation of neuron apoptotic process GO:0043523 9.71 PINK1 PARK7
20 regulation of neurotransmitter secretion GO:0046928 9.71 SNCA PRKN
21 regulation of mitochondrial membrane potential GO:0051881 9.71 PRKN PINK1 PARK7
22 negative regulation of reactive oxygen species metabolic process GO:2000378 9.7 PRKN PINK1
23 regulation of neuron death GO:1901214 9.7 SNCA LRRK2
24 regulation of protein ubiquitination GO:0031396 9.7 PRKN PINK1
25 regulation of autophagy of mitochondrion GO:1903146 9.7 PINK1 ATP13A2
26 regulation of reactive oxygen species metabolic process GO:2000377 9.7 SNCA PRKN PINK1
27 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.69 PARK7 LRRK2
28 positive regulation of mitochondrial fission GO:0090141 9.69 PRKN PINK1
29 synaptic transmission, dopaminergic GO:0001963 9.69 SNCA PRKN PARK7
30 dopamine metabolic process GO:0042417 9.68 SNCA PRKN
31 negative regulation of oxidative stress-induced neuron death GO:1903204 9.68 PINK1 PARK7
32 negative regulation of macroautophagy GO:0016242 9.68 PINK1 LRRK2
33 negative regulation of autophagosome assembly GO:1902902 9.68 PINK1 LRRK2
34 cellular response to dopamine GO:1903351 9.67 PRKN LRRK2
35 dopamine biosynthetic process GO:0042416 9.67 SNCA GCH1
36 regulation of locomotion GO:0040012 9.67 SNCA LRRK2
37 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.67 PRKN PARK7 LRRK2
38 regulation of protein targeting to mitochondrion GO:1903214 9.66 PRKN PINK1
39 protein localization to mitochondrion GO:0070585 9.65 PRKN LRRK2
40 positive regulation of autophagy of mitochondrion GO:1903599 9.65 PRKN PARK7
41 cellular response to toxic substance GO:0097237 9.65 PRKN PINK1
42 regulation of mitochondrion organization GO:0010821 9.65 PRKN PINK1 ATP13A2
43 cellular response to oxidative stress GO:0034599 9.65 SNCA PINK1 PARK7 LRRK2 ATP13A2
44 positive regulation of histone deacetylase activity GO:1901727 9.63 PINK1 LRRK2
45 zinc ion homeostasis GO:0055069 9.63 PRKN ATP13A2
46 regulation of cellular response to oxidative stress GO:1900407 9.62 PRKN PINK1
47 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.62 PRKN PINK1
48 positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization GO:1904925 9.61 PINK1 GBA
49 cellular response to manganese ion GO:0071287 9.61 PRKN LRRK2 ATP13A2
50 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.6 PRKN PARK7

Molecular functions related to Early-Onset Parkinson's Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 PLA2G6 PARK7 GCH1 GBA DNAJC6 ATP13A2
2 clathrin binding GO:0030276 9.4 LRRK2 DNAJC6
3 Hsp70 protein binding GO:0030544 9.37 SNCA PRKN
4 ubiquitin-specific protease binding GO:1990381 9.26 PRKN PARK7
5 phospholipase binding GO:0043274 9.16 SNCA PRKN
6 cuprous ion binding GO:1903136 8.96 SNCA PARK7
7 cupric ion binding GO:1903135 8.62 PARK7 ATP13A2

Sources for Early-Onset Parkinson's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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