MCID: PRK031
MIFTS: 42

Parkinson Disease 1 malady

Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Mental diseases categories
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Summaries for Parkinson Disease 1

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47OMIM, 33MalaCards
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MalaCards: Parkinson Disease 1, also known as young adult-onset parkinsonism, is related to pink1 type of young-onset parkinson disease and parkin type of early-onset parkinson disease. An important gene associated with Parkinson Disease 1 is SNCA (synuclein, alpha (non A4 component of amyloid precursor)), and among its related pathways are Protein Stability and Alpha-synuclein signaling. The compounds 1 methyl 4 phenylpyridinium and rotenone have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and integument.

Description from OMIM:47 168601, 300557, 600116, 602404, 605543 605909, 606324, 606852, 607060, 607688, 610297, 613643, 614203, 614251 more

Aliases & Classifications for Parkinson Disease 1

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47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
young adult-onset parkinsonism:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

parkinson disease 1 47
young adult-onset parkinsonism 49
early-onset parkinson disease 49
young-onset parkinson disease 49
hereditary parkinson disease 49
familial parkinson disease 49


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ICD10 via Orphanet26 G20

Related Diseases for Parkinson Disease 1

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17GeneCards, 18GeneDecks
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Diseases in the Parkinson's Disease family:

Lrrk2-Related Parkinson Disease Parkinson Disease Type 3
Parkinson Disease Type 9 Park7-Related Parkinson Disease
Snca-Related Parkinson Disease Htra2-Related Parkinson Disease
Vps35-Related Parkinson Disease Fbxo7-Related Parkinson Disease
Parkinson Disease 6, Early Onset Parkinson Disease 19, Juvenile-Onset
Parkinson Disease 10 Parkinson Disease, Late-Onset
Parkinson Disease 16 Parkinson Disease 13
Parkinson Disease 11 Parkinson Disease 18
Parkinson Disease 5 Parkinson Disease 4
parkinson disease 1 Parkinson Disease, Juvenile, Type 2
Parkinson Disease 8 Parkinson Disease 17
Parkinson Disease 20, Early-Onset Parkinson Disease 14
Parkinson Disease 12

Diseases related to Parkinson Disease 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1pink1 type of young-onset parkinson disease10.5
2parkin type of early-onset parkinson disease10.4
3parkinson disease 7, autosomal recessive early-onset10.1
4parkinson disease 6, early onset10.1
5parkinson disease, late-onset10.1
6parkinson disease 20, early-onset10.1
7parkinson disease 410.1SNCA
8leprosy10.1PACRG
9lrrk2-related parkinson disease10.1LRRK2
10movement disease10.0LRRK2, SNCA
11essential tremor10.0SNCA, PARK2, LRRK2
12multiple system atrophy10.0SNCA, PARK2, LRRK2
13frontotemporal dementia10.0LRRK2, PARK2, SNCA
14parkinson disease type 310.0LRRK2, PARK2, PARK7, SNCA
15progressive supranuclear palsy10.0SNCA, PARK7, PARK2, LRRK2
16lewy body dementia10.0LRRK2, PARK2, PARK7, SNCA
17tauopathy10.0SNCA, PARK7, PARK2, LRRK2
18herpes simplex9.9EIF4G1, PARK2, GBA
19dementia9.9GBA, LRRK2, PARK2, PARK7, SNCA
20alzheimer's disease9.8PINK1, LRRK2, PARK2, PARK7, SNCA, UCHL1
21parkinson's disease9.6NR4A2, SNCA, HTRA2, GIGYF2, PACRG, PARK7

Graphical network of the top 20 diseases related to Parkinson Disease 1:



Diseases related to parkinson disease 1

Symptoms for Parkinson Disease 1

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47OMIM
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Drugs & Therapeutics for Parkinson Disease 1

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Parkinson Disease 1

Search NIH Clinical Center for Parkinson Disease 1

Genetic Tests for Parkinson Disease 1

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Anatomical Context for Parkinson Disease 1

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Animal Models for Parkinson Disease 1 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Parkinson Disease 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.0LRRK2, UCHL1, SNCA, HTRA2, PARK2, GBA
2MP:00107717.7GBA, UCHL1, SNCA, HTRA2, PARK2, LRRK2
3MP:00107686.9UCHL1, NR4A2, LRRK2, VPS35, PARK2, GIGYF2
4MP:00053786.9NR4A2, GBA, PINK1, PARK2, PARK7, GIGYF2
5MP:00053766.7SNCA, GBA, NR4A2, HTRA2, PINK1, LRRK2
6MP:00053846.6PINK1, HTRA2, NR4A2, GIGYF2, PARK7, PARK2
7MP:00053865.9NR4A2, PINK1, LRRK2, VPS35, PARK2, PARK7
8MP:00036315.8GIGYF2, SNCA, PARK7, NR4A2, UCHL1, PARK2

Publications for Parkinson Disease 1

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Variations for Parkinson Disease 1

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Sources:
64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 1:

64
id Symbol AA change Variation ID SNP ID
1SNCAp.Ala53ThrVAR_007454
2SNCAp.Ala30ProVAR_007957
3SNCAp.Glu46LysVAR_022703
4SNCAp.His50GlnVAR_070171

Expression for genes affiliated with Parkinson Disease 1

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Parkinson Disease 1

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Pathways for genes affiliated with Parkinson Disease 1

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Sources:
50PathCards, 5Cell Signaling Technology, 38NCBI BioSystems Database, 55Reactome, 60Thomson Reuters, 30KEGG, 53QIAGEN
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Pathways related to Parkinson Disease 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4UCHL1, HTRA2, PARK2
29.1UCHL1, PARK2, PARK7, SNCA
3
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
8.0PINK1, PARK2, PARK7, SNCA, UCHL1, EIF4G1
47.7UCHL1, PARK7, SNCA, PINK1, LRRK2, PARK2
57.3SNCA, PINK1, LRRK2, PARK2, PARK7, UCHL1
6
Show member pathways
7.3UCHL1, PINK1, SNCA, HTRA2, PARK7, PARK2

Compounds for genes affiliated with Parkinson Disease 1

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Sources:
45Novoseek, 61Tocris Bioscience, 11DrugBank, 29IUPHAR, 24HMDB
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Compounds related to Parkinson Disease 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
11 methyl 4 phenylpyridinium459.5SNCA, PARK2
2rotenone459.4SNCA, PARK7, PARK2
3mg 13245 6110.4SNCA, EIF4G1, PARK2
46-hydroxydopamine459.3NR4A2, SNCA, PARK7, PARK2
5lysine459.1PARK2, PARK7, SNCA, UCHL1
6methionine459.0SNCA, PINK1, PARK7
7cysteine458.4EIF4G1, UCHL1, PARK7, PARK2, GBA, SNCA
8levodopa45 119.1PARK2, SNCA, PINK1, LRRK2, PARK7
9serine457.7PARK2, GBA, PINK1, HTRA2, SNCA, UCHL1
10dopamine45 29 24 1110.6LRRK2, PINK1, SNCA, NR4A2, UCHL1, PARK7

GO Terms for genes affiliated with Parkinson Disease 1

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16Gene Ontology
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Cellular components related to Parkinson Disease 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1inclusion bodyGO:0162349.5SNCA, LRRK2
2lysosomal membraneGO:0057659.1DNAJC13, VPS35, GBA
3axonGO:0304249.0LRRK2, SNCA, UCHL1
4mitochondrionGO:0057397.2PINK1, LRRK2, PARK2, PARK7, PACRG, HTRA2
5cytosolGO:0058296.6EIF4G1, PINK1, LRRK2, VPS35, PARK2, PARK7

Biological processes related to Parkinson Disease 1 according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1dopamine biosynthetic processGO:04241610.1SNCA, NR4A2
2dopamine uptake involved in synaptic transmissionGO:05158310.1PARK7, SNCA
3cellular response to oxidative stressGO:03459910.0SNCA, NR4A2
4regulation of locomotionGO:0400129.8SNCA, LRRK2
5negative regulation of protein phosphorylationGO:0019339.8SNCA, PARK2
6mitochondrion organizationGO:0070059.7HTRA2, PARK7
7adult walking behaviorGO:0076289.6UCHL1, HTRA2
8negative regulation of MAP kinase activityGO:0434079.6UCHL1, GBA
9negative regulation of cell deathGO:0605489.5HTRA2, PARK7, PARK2
10neuron deathGO:0709979.5PARK2, LRRK2
11adult locomotory behaviorGO:0083449.5PARK7, GIGYF2, SNCA, NR4A2
12mitochondrion degradationGO:0004229.4PARK2, PINK1
13negative regulation of neuron apoptotic processGO:0435248.6PINK1, PARK2, PARK7, SNCA, NR4A2
14cell deathGO:0082197.1EIF4G1, GBA, PINK1, VPS35, PARK2, PARK7

Molecular functions related to Parkinson Disease 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055155.8EIF4G1, PINK1, LRRK2, VPS35, PARK2, PARK7

Products for genes affiliated with Parkinson Disease 1

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  • Antibodies
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  • Lysates
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Sources for Parkinson Disease 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet