Parkinson Disease 1 malady

Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Metabolic diseases, Mental diseases categories

Summaries for Parkinson Disease 1

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OMIM:46 Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD; 104300), affecting... (168601) more...

MalaCards based summary: 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, and has symptoms including parkinsonism 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 mptp and 1 methyl 4 phenylpyridinium have been mentioned in the context of this disorder. Related mouse phenotypes are integument and cardiovascular system.

Descriptions from OMIM:46 300557, 600116, 602404, 605543, 605909 606324, 606852, 607060, 607688, 610297, 613643, 614203, 614251 more

Aliases & Classifications for Parkinson Disease 1

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46OMIM, 48Orphanet, 27ICD10 via Orphanet
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Parkinson Disease 1, Aliases & Descriptions:

Name: Parkinson Disease 1 46
Young Adult-Onset Parkinsonism 48
Early-Onset Parkinson Disease 48
Young-Onset Parkinson Disease 48


Characteristics (Orphanet epidemiological data):

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

External Ids:

ICD10 via Orphanet27 G20

Related Diseases for Parkinson Disease 1

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Diseases in the Parkinson's Disease family:

Lrrk2-Related Parkinson Disease Autosomal Recessive Juvenile 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 7, Autosomal Recessive Early-Onset
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 15, Autosomal Recessive
Parkinson Disease 14 Parkinson Disease 12
Hereditary Parkinson Disease with Late-Onset

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 disease10.5
3parkinson disease 410.4SNCA
4lrrk2-related parkinson disease10.3LRRK2
5parkinson disease 7, autosomal recessive early-onset10.2
6parkinson disease 6, early onset10.2
7parkinson disease, late-onset10.2
8parkinson disease 20, early-onset10.2
9movement disease10.1SNCA, LRRK2
10essential tremor10.1PARK2, SNCA, LRRK2
12multiple system atrophy10.1LRRK2, SNCA, PARK2
13frontotemporal dementia10.1LRRK2, SNCA, PARK2
14parkinson disease type 310.0LRRK2, PARK2, PARK7, SNCA
15progressive supranuclear palsy10.0LRRK2, SNCA, PARK2, PARK7
16lewy body dementia10.0PARK2, LRRK2, PARK7, SNCA
17tauopathy10.0PARK7, PARK2, LRRK2, SNCA
18herpes simplex9.8EIF4G1, PARK2, GBA
19dementia9.8GBA, LRRK2, PARK2, PARK7, SNCA
20alzheimer's disease9.6LRRK2, PINK1, PARK7, SNCA, UCHL1, PARK2
21parkinson's disease8.9GBA, PINK1, LRRK2, PARK2, PARK7, PACRG

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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HPO human phenotypes related to Parkinson Disease 1:

id Description Frequency HPO Source Accession
1 parkinsonism HP:0001300

Drugs & Therapeutics for Parkinson Disease 1

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Drug clinical trials:

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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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MGI Mouse Phenotypes related to Parkinson Disease 1:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1GBA, LRRK2, PARK2, HTRA2, SNCA, UCHL1
2MP:00053857.8GBA, LRRK2, PARK2, HTRA2, SNCA, UCHL1
3MP:00053767.6PINK1, LRRK2, PARK2, PARK7, HTRA2, SNCA
4MP:00053787.4GBA, PINK1, PARK2, PARK7, GIGYF2, HTRA2
5MP:00053847.4GBA, PINK1, LRRK2, PARK2, PARK7, GIGYF2
6MP:00107687.3GBA, LRRK2, VPS35, PARK2, GIGYF2, HTRA2
7MP:00053866.8UCHL1, GBA, PINK1, LRRK2, VPS35, PARK2
8MP:00036316.7GBA, PINK1, LRRK2, VPS35, PARK2, PARK7

Publications for Parkinson Disease 1

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Variations for Parkinson Disease 1

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Parkinson Disease 1:

7 (show all 62)
id Gene Name Type Significance SNP ID Assembly Location
1UCHL1NM_004181.4(UCHL1): c.279C> G (p.Ile93Met)single nucleotide variantPathogenicrs121917767GRCh37Chr 4, 41262768: 41262768
2LRRK2NM_198578.3(LRRK2): c.4321C> G (p.Arg1441Gly)single nucleotide variantPathogenicrs33939927GRCh37Chr 12, 40704236: 40704236
3LRRK2NM_198578.3(LRRK2): c.5096A> G (p.Tyr1699Cys)single nucleotide variantPathogenicrs35801418GRCh37Chr 12, 40714916: 40714916
4LRRK2NM_198578.3(LRRK2): c.4321C> T (p.Arg1441Cys)single nucleotide variantPathogenicrs33939927GRCh37Chr 12, 40704236: 40704236
5LRRK2NM_198578.3(LRRK2): c.3364A> G (p.Ile1122Val)single nucleotide variantPathogenicrs34805604GRCh37Chr 12, 40692927: 40692927
6LRRK2NM_198578.3(LRRK2): c.6055G> A (p.Gly2019Ser)single nucleotide variantPathogenicrs34637584GRCh37Chr 12, 40734202: 40734202
7LRRK2NM_198578.3(LRRK2): c.6059T> C (p.Ile2020Thr)single nucleotide variantPathogenicrs35870237GRCh37Chr 12, 40734206: 40734206
8LRRK2NM_198578.3(LRRK2): c.4322G> A (p.Arg1441His)single nucleotide variantPathogenicrs34995376GRCh37Chr 12, 40704237: 40704237
9LRRK2NM_198578.3(LRRK2): c.7153G> A (p.Gly2385Arg)single nucleotide variantPathogenic, risk factorrs34778348GRCh37Chr 12, 40757328: 40757328
10NM_032409.2(PINK1): c.926G> A (p.Gly309Asp)single nucleotide variantPathogenicrs74315355GRCh37Chr 1, 20971132: 20971132
11NM_032409.2(PINK1): c.813C> A (p.His271Gln)single nucleotide variantPathogenicrs28940284GRCh37Chr 1, 20971019: 20971019
12NM_032409.2(PINK1): c.1311G> A (p.Trp437Ter)single nucleotide variantPathogenicrs74315356GRCh37Chr 1, 20975547: 20975547
13PINK1NM_032409.2(PINK1): c.736C> T (p.Arg246Ter)single nucleotide variantPathogenicrs74315357GRCh37Chr 1, 20966445: 20966445
14NM_032409.2(PINK1): c.1040T> C (p.Leu347Pro)single nucleotide variantPathogenicrs28940285GRCh37Chr 1, 20972133: 20972133
15PINK1PINK1, 4-BP INS, 1573TTAGinsertionPathogenic
16PINK1PINK1, 3-BP INS, 1602CAAinsertionPathogenic
17NM_032409.2(PINK1): c.836G> A (p.Arg279His)single nucleotide variantPathogenicrs74315358GRCh37Chr 1, 20971042: 20971042
18PINK1PINK1, EX6-8DELdeletionPathogenic
19NM_032409.2(PINK1): c.938C> T (p.Thr313Met)single nucleotide variantPathogenicrs74315359GRCh37Chr 1, 20971144: 20971144
20PINK1NM_032409.2(PINK1): c.650C> A (p.Ala217Asp)single nucleotide variantPathogenicrs74315360GRCh37Chr 1, 20964597: 20964597
21NM_032409.2(PINK1): c.1366C> T (p.Gln456Ter)single nucleotide variantPathogenicrs45539432GRCh37Chr 1, 20975602: 20975602
22EIF4G1NM_198241.2(EIF4G1): c.3614G> A (p.Arg1205His)single nucleotide variantPathogenicrs112176450GRCh37Chr 3, 184045189: 184045189
23EIF4G1NM_198241.2(EIF4G1): c.1505C> T (p.Ala502Val)single nucleotide variantPathogenicrs111290936GRCh37Chr 3, 184039877: 184039877
24VPS35NM_018206.4(VPS35): c.1858G> A (p.Asp620Asn)single nucleotide variantPathogenicrs188286943GRCh37Chr 16, 46696364: 46696364
25LRRK2NM_198578.3(LRRK2): c.1256C> T (p.Ala419Val)single nucleotide variantPathogenicrs34594498GRCh37Chr 12, 40646786: 40646786
26LRRK2NM_198578.3(LRRK2): c.2264C> T (p.Pro755Leu)single nucleotide variantPathogenicrs34410987GRCh37Chr 12, 40677699: 40677699
27LRRK2NM_198578.3(LRRK2): c.3342A> G (p.Leu1114=)single nucleotide variantPathogenicrs35808389GRCh37Chr 12, 40692290: 40692290
28LRRK2NM_198578.3(LRRK2): c.4309A> C (p.Asn1437His)single nucleotide variantPathogenicrs74163686GRCh37Chr 12, 40703027: 40703027
29LRRK2NM_198578.3(LRRK2): c.4883G> C (p.Arg1628Pro)single nucleotide variantPathogenicrs33949390GRCh37Chr 12, 40713845: 40713845
30LRRK2NM_198578.3(LRRK2): c.5605A> G (p.Met1869Val)single nucleotide variantPathogenicrs281865052GRCh37Chr 12, 40717057: 40717057
31LRRK2NM_198578.3(LRRK2): c.5620G> T (p.Glu1874Ter)single nucleotide variantPathogenicrs281865054GRCh37Chr 12, 40717072: 40717072
32PARK2NM_004562.2(PARK2): c.1292G> T (p.Cys431Phe)single nucleotide variantPathogenicrs397514694GRCh37Chr 6, 161771237: 161771237
33PARK7NM_007262.4(PARK7): c.487G> A (p.Glu163Lys)single nucleotide variantPathogenicrs74315354GRCh37Chr 1, 8045031: 8045031
34PARK2NM_004562.2: c.172-?_871+?deldeletionPathogenic
35PARK2NM_004562.2: c.413-?_534+?deldeletionPathogenic
36PARK2NM_004562.2(PARK2): c.719C> G (p.Thr240Arg)single nucleotide variantPathogenicrs137853054GRCh37Chr 6, 162394349: 162394349
37PARK2NM_004562.2(PARK2): c.931C> T (p.Gln311Ter)single nucleotide variantPathogenicrs137853055GRCh37Chr 6, 161990389: 161990389
38PARK2NM_004562.2(PARK2): c.245C> A (p.Ala82Glu)single nucleotide variantPathogenicrs55774500GRCh37Chr 6, 162683724: 162683724
39PARK2NM_004562.2: c.8-?_171+?deldeletionPathogenic
40PARK2NM_004562.2: c.872-?_1083+?deldeletionPathogenic
41PARK2NM_004562.2(PARK2): c.1358G> A (p.Trp453Ter)single nucleotide variantPathogenicrs137853056GRCh37Chr 6, 161771171: 161771171
42PARK2NM_004562.2(PARK2): c.483A> T (p.Lys161Asn)single nucleotide variantPathogenicrs137853057GRCh37Chr 6, 162622214: 162622214
43PARK2PARK2, 1-BP DEL, 202AdeletionPathogenic
44PARK2NM_004562.2: c.735-?_871+?deldeletionPathogenic
45PARK2NM_004562.2(PARK2): c.635G> A (p.Cys212Tyr)single nucleotide variantPathogenicrs137853058GRCh37Chr 6, 162394433: 162394433
46PARK2NM_004562.2(PARK2): c.167T> A (p.Val56Glu)single nucleotide variantPathogenicrs137853059GRCh37Chr 6, 162864346: 162864346
47PARK2PARK2, 1-BP DEL, 255AdeletionPathogenic
48PARK2NM_004562.2(PARK2): c.823C> T (p.Arg275Trp)single nucleotide variantPathogenicrs34424986GRCh37Chr 6, 162206852: 162206852
49PARK2NM_004562.2(PARK2): c.633A> T (p.Lys211Asn)single nucleotide variantPathogenicrs137853060GRCh37Chr 6, 162394435: 162394435
50PARK2PARK2, 1-BP DEL, 1072TdeletionPathogenic
51NM_004562.2(PARK2): c.7+1G> Tsingle nucleotide variantPathogenicrs397518439GRCh37Chr 6, 163148693: 163148693
52PARK2NM_004562.2(PARK2): c.719C> T (p.Thr240Met)single nucleotide variantPathogenicrs137853054GRCh37Chr 6, 162394349: 162394349
53PARK2PARK2, EX5-6 DELdeletionPathogenic
55PARK7NM_007262.4(PARK7): c.497T> C (p.Leu166Pro)single nucleotide variantPathogenicrs28938172GRCh37Chr 1, 8045041: 8045041
56PARK7NM_007262.4(PARK7): c.78G> A (p.Met26Ile)single nucleotide variantPathogenicrs74315351GRCh37Chr 1, 8022923: 8022923
57PARK7NM_007262.4(PARK7): c.446A> C (p.Asp149Ala)single nucleotide variantPathogenicrs74315352GRCh37Chr 1, 8044990: 8044990
58PARK7NM_007262.4(PARK7): c.192G> C (p.Glu64Asp)single nucleotide variantPathogenicrs74315353GRCh37Chr 1, 8025485: 8025485
59GIGYF2NM_015575.3(GIGYF2): c.1370A> C (p.Asn457Thr)single nucleotide variantPathogenicrs116074753GRCh37Chr 2, 233659545: 233659545
60GIGYF2NM_015575.3(GIGYF2): c.1818C> G (p.Asp606Glu)single nucleotide variantPathogenicrs118203903GRCh37Chr 2, 233674441: 233674441
61GIGYF2NM_015575.3(GIGYF2): c.832A> G (p.Ile278Val)single nucleotide variantPathogenicrs118203904GRCh37Chr 2, 233655527: 233655527
62GIGYF2NM_015575.3(GIGYF2): c.1262A> G (p.Lys421Arg)single nucleotide variantPathogenicrs115735611GRCh37Chr 2, 233656136: 233656136

Expression for genes affiliated with Parkinson Disease 1

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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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Pathways related to Parkinson Disease 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I59
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Compounds for genes affiliated with Parkinson Disease 1

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44Novoseek, 60Tocris Bioscience, 12DrugBank, 29IUPHAR, 25HMDB
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Compounds related to Parkinson Disease 1 according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1mptp449.9SNCA, PARK2
21 methyl 4 phenylpyridinium449.8PARK2, SNCA
3rotenone449.7SNCA, PARK7, PARK2
46-hydroxydopamine449.7PARK2, PARK7, SNCA
5mg 13244 6010.6EIF4G1, SNCA, PARK2
6lysine449.4PARK2, PARK7, SNCA, UCHL1
7methionine449.2SNCA, PARK7, PINK1
8levodopa44 129.9SNCA, PARK7, PARK2, LRRK2, PINK1
9cysteine448.7GBA, PARK2, PARK7, SNCA, UCHL1, EIF4G1
10dopamine44 29 25 1211.6PINK1, LRRK2, PARK2, PARK7, SNCA, UCHL1
11serine448.1UCHL1, SNCA, HTRA2, PARK2, PINK1, GBA

GO Terms for genes affiliated with Parkinson Disease 1

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

idNameGO IDScoreTop Affiliating Genes
1inclusion bodyGO:0162349.7SNCA, LRRK2
2axonGO:0304249.2LRRK2, SNCA, UCHL1
3lysosomal membraneGO:0057659.1DNAJC13, VPS35, GBA
4mitochondrionGO:0057397.3PINK1, LRRK2, PARK2, PARK7, PACRG, HTRA2
5cytosolGO:0058297.2EIF4G1, PINK1, LRRK2, VPS35, PARK2, PARK7

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1dopamine uptake involved in synaptic transmissionGO:05158310.1SNCA, PARK7
2regulation of locomotionGO:04001210.0SNCA, LRRK2
3negative regulation of protein phosphorylationGO:0019339.9SNCA, PARK2
4adult locomotory behaviorGO:0083449.8PARK7, GIGYF2, SNCA
5neuron deathGO:0709979.8PARK2, LRRK2
6mitochondrion degradationGO:0004229.8PARK2, PINK1
7negative regulation of MAP kinase activityGO:0434079.6UCHL1, GBA
8mitochondrion organizationGO:0070059.5PARK7, HTRA2
9negative regulation of cell deathGO:0605489.4HTRA2, PARK7, PARK2
10negative regulation of neuron apoptotic processGO:0435249.4PINK1, PARK2, PARK7, SNCA
11adult walking behaviorGO:0076289.3UCHL1, HTRA2
12cell deathGO:0082197.9EIF4G1, GBA, PINK1, VPS35, PARK2, PARK7

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.6EIF4G1, PINK1, LRRK2, VPS35, PARK2, PARK7

Products for genes affiliated with Parkinson Disease 1

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  • Antibodies
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Sources for Parkinson Disease 1

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27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet