MCID: PRK025
MIFTS: 35

Parkinson Disease 10

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

Aliases & Classifications for Parkinson Disease 10

MalaCards integrated aliases for Parkinson Disease 10:

Name: Parkinson Disease 10 57 29 13 73
Parkinson Disease, Age at Onset, Susceptibility to 6
Parkinson Disease, Age at Onset of; Aaopd 57
Parkinson Disease, Age at Onset of 57
Park10 57
Aaopd 57

Classifications:



External Ids:

OMIM 57 606852
UMLS 73 C1847360

Summaries for Parkinson Disease 10

MalaCards based summary : Parkinson Disease 10, also known as parkinson disease, age at onset, susceptibility to, is related to parkinson disease, late-onset and parkinson disease 6, autosomal recessive early-onset. An important gene associated with Parkinson Disease 10 is VPS13C (Vacuolar Protein Sorting 13 Homolog C), 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. Related phenotypes are homeostasis/metabolism and no phenotypic analysis

Description from OMIM: 606852

Related Diseases for Parkinson Disease 10

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
Lrrk2-Related Parkinson Disease Vps35-Related Parkinson Disease
Parkinson Disease Type 9 Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 parkinson disease, late-onset 24.9 LRRK2 PARK10 PARK7 PINK1 PRKN SNCA
2 parkinson disease 6, autosomal recessive early-onset 10.0 PARK7 PINK1
3 hereditary late-onset parkinson disease 9.9 LRRK2 SNCA
4 postencephalitic parkinson disease 9.7 LRRK2 SNCA
5 rem sleep behavior disorder 9.7 LRRK2 SNCA
6 muscular dystrophy, congenital, megaconial type 9.6 PINK1 PRKN
7 aphasia 9.5 LRRK2 SNCA
8 leprosy 3 9.1 LRRK2 PRKN
9 tremor 9.0 LRRK2 PRKN SNCA
10 multiple system atrophy 1 8.9 LRRK2 PRKN SNCA
11 essential tremor 8.9 LRRK2 PRKN SNCA
12 parkinson disease 3, autosomal dominant 8.4 LRRK2 PARK7 PRKN SNCA
13 supranuclear palsy, progressive, 1 8.4 LRRK2 PARK7 PRKN SNCA
14 dementia, lewy body 8.4 LRRK2 PARK7 PRKN SNCA
15 dementia 8.3 LRRK2 PARK7 PRKN SNCA
16 early-onset parkinson's disease 8.0 LRRK2 PARK7 PINK1 PRKN SNCA
17 movement disease 8.0 LRRK2 PARK7 PINK1 PRKN SNCA
18 synucleinopathy 8.0 LRRK2 PARK7 PINK1 PRKN SNCA
19 central nervous system disease 7.9 LRRK2 PARK7 PINK1 PRKN SNCA
20 nervous system disease 7.9 LRRK2 PARK7 PINK1 PRKN SNCA
21 parkinson disease 2, autosomal recessive juvenile 7.4 LRRK2 PARK7 PINK1 PRKN SNCA VPS13C

Graphical network of the top 20 diseases related to Parkinson Disease 10:



Diseases related to Parkinson Disease 10

Symptoms & Phenotypes for Parkinson Disease 10

Clinical features from OMIM:

606852

MGI Mouse Phenotypes related to Parkinson Disease 10:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 LRRK2 PARK7 PINK1 PRKN SNCA VPS13C
2 no phenotypic analysis MP:0003012 8.92 LRRK2 PINK1 PRKN SNCA

Drugs & Therapeutics for Parkinson Disease 10

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effects of Exercise in Parkinson's Disease Completed NCT01835652 Not Applicable
2 Effects of Nordic Walking in Parkinson Disease Patients Completed NCT03355521 Not Applicable

Search NIH Clinical Center for Parkinson Disease 10

Genetic Tests for Parkinson Disease 10

Genetic tests related to Parkinson Disease 10:

# Genetic test Affiliating Genes
1 Parkinson Disease 10 29

Anatomical Context for Parkinson Disease 10

Publications for Parkinson Disease 10

Articles related to Parkinson Disease 10:

# Title Authors Year
1
Parkinson disease, 10 years after its genetic revolution: multiple clues to a complex disorder. ( 17761553 )
2007

Variations for Parkinson Disease 10

ClinVar genetic disease variations for Parkinson Disease 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS13C NM_020821.2(VPS13C): c.9568G> T (p.Glu3190Ter) single nucleotide variant Pathogenic rs869312810 GRCh37 Chromosome 15, 62174851: 62174851
2 VPS13C NM_020821.2(VPS13C): c.9568G> T (p.Glu3190Ter) single nucleotide variant Pathogenic rs869312810 GRCh38 Chromosome 15, 61882652: 61882652
3 VPS13C NM_020821.2(VPS13C): c.8445+2T> G single nucleotide variant Pathogenic rs869312809 GRCh37 Chromosome 15, 62207830: 62207830
4 VPS13C NM_020821.2(VPS13C): c.8445+2T> G single nucleotide variant Pathogenic rs869312809 GRCh38 Chromosome 15, 61915631: 61915631
5 VPS13C NM_020821.2(VPS13C): c.4777delC (p.Gln1593Lysfs) deletion Pathogenic rs869312811 GRCh37 Chromosome 15, 62239491: 62239491
6 VPS13C NM_020821.2(VPS13C): c.4777delC (p.Gln1593Lysfs) deletion Pathogenic rs869312811 GRCh38 Chromosome 15, 61947292: 61947292
7 VPS13C NM_020821.2(VPS13C): c.4165G> C (p.Gly1389Arg) single nucleotide variant Pathogenic rs369100678 GRCh37 Chromosome 15, 62250807: 62250807
8 VPS13C NM_020821.2(VPS13C): c.4165G> C (p.Gly1389Arg) single nucleotide variant Pathogenic rs369100678 GRCh38 Chromosome 15, 61958608: 61958608
9 VPS13C NM_020821.2(VPS13C): c.806_807insCAGA (p.Arg269Serfs) insertion Pathogenic rs879253853 GRCh37 Chromosome 15, 62305256: 62305257
10 VPS13C NM_020821.2(VPS13C): c.806_807insCAGA (p.Arg269Serfs) insertion Pathogenic rs879253853 GRCh38 Chromosome 15, 62013057: 62013058

Expression for Parkinson Disease 10

Search GEO for disease gene expression data for Parkinson Disease 10.

Pathways for Parkinson Disease 10

GO Terms for Parkinson Disease 10

Cellular components related to Parkinson Disease 10 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.73 PARK7 PINK1 PRKN SNCA
2 neuron projection GO:0043005 9.69 LRRK2 PARK7 PRKN
3 mitochondrial matrix GO:0005759 9.65 LRRK2 PARK7 SNCA
4 axon GO:0030424 9.62 LRRK2 PARK7 PINK1 SNCA
5 cell body GO:0044297 9.55 PARK7 PINK1
6 presynapse GO:0098793 9.54 PARK7 PRKN
7 growth cone GO:0030426 9.54 LRRK2 PINK1 SNCA
8 terminal bouton GO:0043195 9.52 LRRK2 SNCA
9 postsynapse GO:0098794 9.49 LRRK2 SNCA
10 mitochondrial respiratory chain complex I GO:0005747 9.46 PARK7 SNCA
11 mitochondrial intermembrane space GO:0005758 9.43 PARK7 PINK1 SNCA
12 mitochondrion GO:0005739 9.43 LRRK2 PARK7 PINK1 PRKN SNCA VPS13C
13 inclusion body GO:0016234 9.4 LRRK2 SNCA
14 Lewy body GO:0097413 9.16 PINK1 PRKN
15 mitochondrial outer membrane GO:0005741 8.92 LRRK2 PINK1 SNCA VPS13C

Biological processes related to Parkinson Disease 10 according to GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.87 PARK7 PINK1 PRKN
2 protein stabilization GO:0050821 9.85 PARK7 PINK1 PRKN
3 autophagy GO:0006914 9.83 LRRK2 PARK7 PINK1 PRKN
4 response to oxidative stress GO:0006979 9.82 LRRK2 PINK1 PRKN
5 negative regulation of neuron apoptotic process GO:0043524 9.8 PARK7 PINK1 PRKN SNCA
6 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.79 PARK7 PINK1 SNCA
7 adult locomotory behavior GO:0008344 9.75 PARK7 PRKN SNCA
8 excitatory postsynaptic potential GO:0060079 9.72 LRRK2 SNCA
9 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.72 LRRK2 PRKN
10 negative regulation of cell death GO:0060548 9.72 PARK7 PRKN
11 negative regulation of protein binding GO:0032091 9.72 LRRK2 PARK7
12 regulation of autophagy GO:0010506 9.71 LRRK2 PRKN
13 positive regulation of protein ubiquitination GO:0031398 9.71 LRRK2 PINK1
14 positive regulation of protein binding GO:0032092 9.71 LRRK2 PRKN
15 protein destabilization GO:0031648 9.71 PRKN SNCA
16 autophagy of mitochondrion GO:0000422 9.71 PINK1 PRKN
17 cellular response to oxidative stress GO:0034599 9.71 LRRK2 PARK7 PINK1 SNCA
18 activation of protein kinase B activity GO:0032148 9.7 PARK7 PINK1
19 regulation of canonical Wnt signaling pathway GO:0060828 9.7 LRRK2 PRKN
20 negative regulation of JNK cascade GO:0046329 9.7 PINK1 PRKN
21 regulation of neuron apoptotic process GO:0043523 9.69 PARK7 PINK1
22 negative regulation of reactive oxygen species metabolic process GO:2000378 9.69 PINK1 PRKN
23 regulation of dopamine secretion GO:0014059 9.69 PRKN SNCA
24 regulation of mitochondrial membrane potential GO:0051881 9.69 PARK7 PINK1 PRKN
25 regulation of neuron death GO:1901214 9.68 LRRK2 SNCA
26 regulation of neurotransmitter secretion GO:0046928 9.68 PRKN SNCA
27 regulation of protein ubiquitination GO:0031396 9.68 PINK1 PRKN
28 regulation of mitochondrion organization GO:0010821 9.67 PINK1 PRKN
29 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.67 LRRK2 PARK7
30 positive regulation of mitochondrial fission GO:0090141 9.67 PINK1 PRKN
31 negative regulation of protein phosphorylation GO:0001933 9.67 LRRK2 PARK7 PRKN SNCA
32 dopamine metabolic process GO:0042417 9.66 PRKN SNCA
33 negative regulation of macroautophagy GO:0016242 9.66 LRRK2 PINK1
34 cellular response to dopamine GO:1903351 9.65 LRRK2 PRKN
35 negative regulation of autophagosome assembly GO:1902902 9.65 LRRK2 PINK1
36 negative regulation of oxidative stress-induced neuron death GO:1903204 9.65 PARK7 PINK1
37 regulation of reactive oxygen species metabolic process GO:2000377 9.65 PINK1 PRKN SNCA
38 regulation of locomotion GO:0040012 9.64 LRRK2 SNCA
39 regulation of protein targeting to mitochondrion GO:1903214 9.63 PINK1 PRKN
40 cellular response to toxic substance GO:0097237 9.63 PINK1 PRKN
41 synaptic transmission, dopaminergic GO:0001963 9.63 PARK7 PRKN SNCA
42 positive regulation of autophagy of mitochondrion GO:1903599 9.62 PARK7 PRKN
43 positive regulation of histone deacetylase activity GO:1901727 9.61 LRRK2 PINK1
44 cellular response to manganese ion GO:0071287 9.61 LRRK2 PRKN
45 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.61 LRRK2 PARK7 PRKN
46 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.6 PINK1 PRKN
47 protein localization to mitochondrion GO:0070585 9.59 LRRK2 PRKN
48 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.58 PARK7 PRKN
49 mitochondrion to lysosome transport GO:0099074 9.57 PINK1 PRKN
50 regulation of cellular response to oxidative stress GO:1900407 9.56 PINK1 PRKN

Molecular functions related to Parkinson Disease 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.67 LRRK2 PARK7 PRKN SNCA
2 enzyme binding GO:0019899 9.58 PARK7 PRKN SNCA
3 copper ion binding GO:0005507 9.43 PARK7 SNCA
4 tubulin binding GO:0015631 9.32 LRRK2 PRKN
5 Hsp70 protein binding GO:0030544 9.26 PRKN SNCA
6 ubiquitin-specific protease binding GO:1990381 9.16 PARK7 PRKN
7 phospholipase binding GO:0043274 8.96 PRKN SNCA
8 cuprous ion binding GO:1903136 8.62 PARK7 SNCA

Sources for Parkinson Disease 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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