MCID: PRK031
MIFTS: 43

Parkinson Disease 1 malady

Neuronal diseases, Ear diseases, Genetic diseases categories

Summaries for Parkinson Disease 1

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46OMIM, 32MalaCards
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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 Alpha-synuclein signaling and Protein Stability. The compounds rotenone and 1 methyl 4 phenylpyridinium have been mentioned in the context of this disorder. Related mouse phenotypes are integument and homeostasis/metabolism.

Description from OMIM:46 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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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Neuronal diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
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 46
young adult-onset parkinsonism 48
early-onset parkinson disease 48
young-onset parkinson disease 48
hereditary parkinson disease 48
familial parkinson disease 48


External Ids:

ICD10 via Orphanet26 G20

Related Diseases for Parkinson Disease 1

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Sources:
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 32)
idRelated DiseaseScoreTop Affiliating Genes
1pink1 type of young-onset parkinson disease10.5
2parkin type of early-onset parkinson disease10.4
3parkinson disease 20, early-onset10.3
4autosomal recessive juvenile parkinson disease10.1
5parkinson disease 7, autosomal recessive early-onset10.1
6parkinson disease 6, early onset10.1
7parkinson disease, late-onset10.1
8brain disease10.0
9pick's disease10.0SNCA
10dysautonomia10.0SNCA
11amyotrophic lateral sclerosis10.0SNCA
12lrrk2-related parkinson disease10.0LRRK2
13ischemia10.0SNCA
14myositis10.0SNCA
15gaucher's disease10.0GBA
16amyloidosis10.0SNCA
17movement disease10.0SNCA, LRRK2
18multiple system atrophy10.0PARK2, SNCA, LRRK2
19essential tremor10.0LRRK2, SNCA, PARK2
20leprosy10.0PACRG
21frontotemporal dementia10.0SNCA, LRRK2, PARK2
22schizophrenia10.0NR4A2, SNCA
23lewy body dementia10.0SNCA, GBA, LRRK2
24parkinson disease type 310.0PARK7, SNCA, PARK2, LRRK2
25progressive supranuclear palsy10.0PARK2, LRRK2, SNCA, PARK7
26tauopathy10.0LRRK2, PARK7, PARK2, SNCA
27breast cancer10.0PARK2, SNCA, EIF4G1, PARK7
28leukemia10.0PARK2, GBA, NR4A2
29herpes simplex10.0GBA, EIF4G1, PARK2
30dementia10.0PARK7, SNCA, GBA, LRRK2, PARK2
31alzheimer's disease10.0PARK2, UCHL1, PINK1, SNCA, NR4A2, PARK7
32parkinson's disease9.9GIGYF2, GBA, LRRK2, PARK7, PARK2, PACRG

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



Diseases related to parkinson disease 1

Clinical Features for Parkinson Disease 1

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Sources:
46OMIM
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Drugs & Therapeutics for Parkinson Disease 1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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Sources:
36MGI
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MGI Mouse Phenotypes related to Parkinson Disease 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.1UCHL1, HTRA2, SNCA, SH3KBP1, GBA, LRRK2
2MP:00053766.6HTRA2, SNCA, SH3KBP1, NR4A2, GBA, LRRK2
3MP:00053846.6SNCA, HTRA2, PINK1, PARK2, SH3KBP1, NR4A2
4MP:00107686.5VPS35, HTRA2, SNCA, NR4A2, GIGYF2, GBA
5MP:00053786.2HTRA2, PARK2, PARK7, GBA, GIGYF2, NR4A2
6MP:00053865.5GIGYF2, VPS35, HTRA2, PINK1, SNCA, SH3KBP1
7MP:00036315.5PARK2, VPS35, HTRA2, PINK1, SNCA, SH3KBP1

Publications for Parkinson Disease 1

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Genetic Variations for Parkinson Disease 1

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Parkinson Disease 1:

62
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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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Parkinson Disease 1

Search GEO for disease gene expression data for Parkinson Disease 1.

Pathways for genes affiliated with Parkinson Disease 1

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Sources:
37NCBI BioSystems Database, 4Cell Signaling Technology, 53Reactome, 51QIAGEN, 29KEGG
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Compounds for genes affiliated with Parkinson Disease 1

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Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Parkinson Disease 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rotenone449.8SNCA, PARK7, PARK2
21 methyl 4 phenylpyridinium449.7SNCA, PARK2
3mg 13244 5910.6SNCA, EIF4G1, PARK2
46-hydroxydopamine449.5PARK2, PARK7, NR4A2, SNCA
5levodopa44 1110.3PINK1, SNCA, LRRK2, PARK7, PARK2
6lysine449.0PARK2, PARK7, SNCA, UCHL1
7dopamine44 28 11 2411.3PARK2, PARK7, LRRK2, NR4A2, SNCA, PINK1
8tyrosine448.1PARK2, PARK7, NR4A2, SH3KBP1, SNCA, UCHL1
9cysteine448.0UCHL1, SNCA, GBA, EIF4G1, PARK7, PARK2
10serine447.5UCHL1, HTRA2, PINK1, SNCA, NR4A2, GBA

GO Terms for genes affiliated with Parkinson Disease 1

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.1PARK2, HTRA2, PINK1, SNCA, LRRK2, PACRG
2cytosolGO:0058297.3VPS35, HTRA2, PINK1, SNCA, SH3KBP1, EIF4G1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1dopamine uptake involved in synaptic transmissionGO:05158310.2SNCA, PARK7
2mitochondrion degradationGO:00042210.2PARK2, PINK1
3regulation of locomotionGO:04001210.1LRRK2, SNCA
4neuron deathGO:07099710.1LRRK2, PARK2
5dopamine biosynthetic processGO:04241610.0NR4A2, SNCA
6negative regulation of protein phosphorylationGO:00193310.0PARK2, SNCA
7positive regulation of cell deathGO:0109429.8LRRK2, HTRA2
8negative regulation of cell deathGO:0605489.7PARK2, PARK7, HTRA2
9adult locomotory behaviorGO:0083449.4SNCA, NR4A2, GIGYF2, PARK7
10mitochondrion organizationGO:0070059.4HTRA2, PARK7
11negative regulation of neuron apoptotic processGO:0435249.3PINK1, SNCA, NR4A2, PARK7, PARK2
12adult walking behaviorGO:0076289.3UCHL1, HTRA2
13response to stressGO:0069509.3UCHL1, HTRA2, PINK1
14negative regulation of MAP kinase activityGO:0434079.0GBA, UCHL1
15cell deathGO:0082197.3PARK2, UCHL1, VPS35, PINK1, GIGYF2, GBA

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.2PARK2, VPS35, HTRA2, PINK1, SNCA, SH3KBP1

Products for genes affiliated with Parkinson Disease 1

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Sources for Parkinson Disease 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet