MCID: PRK031
MIFTS: 44

Parkinson Disease 1 malady

Neuronal, Ear, Genetic categories

Summaries for Parkinson Disease 1

Sources:
47OMIM, 33MalaCards
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MalaCards: Parkinson Disease 1, also known as young adult-onset parkinsonism, is related to parkinson's disease and pink1 type of young-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. Affiliated tissues include brain and cortex, and related mouse phenotypes are integument and homeostasis/metabolism.

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

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


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


External Ids:

ICD10 via Orphanet26 G20

Related Diseases for Parkinson Disease 1

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the parkinson's disease family:

parkinson disease type 3 parkinson disease type 9
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
1parkinson's disease30.6SNCA, PINK1, HTRA2, UCHL1, NR4A2, GBA
2pink1 type of young-onset parkinson disease10.4
3parkin type of early-onset parkinson disease10.4
4parkinson disease 7, autosomal recessive early-onset10.2
5parkinson disease 6, early onset10.2
6parkinson disease, late-onset10.2
7parkinson disease 20, early-onset10.2
8brain disease10.0
9vps35-related parkinson disease10.0
10pick's disease10.0SNCA
11dysautonomia10.0SNCA
12amyotrophic lateral sclerosis10.0SNCA
13lrrk2-related parkinson disease10.0LRRK2
14ischemia10.0SNCA
15myositis10.0SNCA
16gaucher's disease10.0GBA
17amyloidosis10.0SNCA
18movement disease10.0SNCA, LRRK2
19multiple system atrophy10.0PARK2, LRRK2, SNCA
20essential tremor10.0SNCA, LRRK2, PARK2
21leprosy10.0PACRG
22frontotemporal dementia10.0SNCA, LRRK2, PARK2
23schizophrenia10.0NR4A2, SNCA
24lewy body dementia10.0SNCA, GBA, LRRK2
25parkinson disease type 310.0SNCA, LRRK2, PARK7, PARK2
26progressive supranuclear palsy10.0PARK2, PARK7, LRRK2, SNCA
27tauopathy10.0SNCA, LRRK2, PARK7, PARK2
28breast cancer10.0PARK2, PARK7, EIF4G1, SNCA
29leukemia10.0PARK2, GBA, NR4A2
30herpes simplex10.0PARK2, EIF4G1, GBA
31dementia10.0SNCA, GBA, LRRK2, PARK7, PARK2
32alzheimer's disease10.0UCHL1, PINK1, SNCA, NR4A2, LRRK2, PARK7

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



Diseases related to parkinson disease 1

Clinical Features for Parkinson Disease 1

Sources:
47OMIM
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Drugs & Therapeutics for Parkinson Disease 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Parkinson Disease 1

Drug clinical trials:

Search ClinicalTrials for Parkinson Disease 1

Search NIH Clinical Center for Parkinson Disease 1

Search CenterWatch for Parkinson Disease 1

Genetic Tests for Parkinson Disease 1

Anatomical Context for Parkinson Disease 1

Sources:
33MalaCards
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MalaCards organs/tissues related to Parkinson Disease 1:

33
Brain, Cortex

Animal Models for Parkinson Disease 1 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Parkinson Disease 1

Sources:
51PubMed
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Articles related to Parkinson Disease 1:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
BDNF 196A g/a and 270 c/t polymorphisms and susceptibility to Parkinson's disease: a meta-analysis. (24329127)
2014
2
Alcohol use disorders and risk of Parkinson's disease: findings from a Swedish national cohort study 1972-2008. (24314068)
2013
3
Diagnostic accuracy of apparent diffusion coefficient and 123I-metaiodobenzylguanidine for differentiation of multiple system atrophy and Parkinson's disease. (23613784)
2013
4
Reduced cardiac 123I-metaiodobenzylguanidine uptake in patients with spinocerebellar ataxia type 2: a comparative study with Parkinson's disease. (23929432)
2013
5
Gender differences in the IL6 -174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease. (22155094)
2012
6
Association of catechol-o-methyltransferase polymorphism (Val108/158Met) with Parkinson's disease: a meta-analysis. (23035936)
2012
7
Lack of association of polymorphism in miRNA-196a2 with Parkinson's disease risk in a Chinese population. (22426473)
2012
8
Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations. (21611983)
2011
9
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. (21044948)
2011
10
Differentiating Parkinson's disease from multiple system atrophy by [123I] meta-iodobenzylguanidine myocardial scintigraphy and olfactory test. (21840242)
2011
11
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. (21084426)
2011
12
Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease. (21837367)
2011
13
Cardiac 123I-MIBG uptake is reduced more markedly in patients with REM sleep behavior disorder than in those with early stage Parkinson's disease. (20097595)
2010
14
Myocardial 123metaiodobenzylguanidine uptake in genetic Parkinson's disease. (17975812)
2008
15
Brain parenchyma sonography and 123I-FP-CIT SPECT in Parkinson's disease and essential tremor. (18067184)
2008
16
Cost-effectiveness of 123I-FP-CIT SPECT in the differential diagnosis of essential tremor and Parkinson's disease in Italy. (18785639)
2008
17
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis. (17219214)
2007
18
Mixed lineage kinase inhibitor CEP-1347 fails to delay disability in early Parkinson disease. (17881719)
2007
19
DBH -1021C-->T does not modify risk or age at onset in Parkinson's disease. (17503507)
2007
20
Rasagiline (TVP-1012): a new selective monoamine oxidase inhibitor for Parkinson's disease. (17296539)
2006
21
Reduced cardiac uptake and enhanced washout of 123I-MIBG in pure autonomic failure occurs conjointly with Parkinson's disease and dementia with Lewy bodies. (16818943)
2006
22
Early-stage [123I]beta-CIT SPECT and long-term clinical follow-up in patients with an initial diagnosis of Parkinson's disease. (15682332)
2005
23
LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century. (16145815)
2005
24
Association studies of the adenosine A2a receptor (1976T > C) genetic polymorphism in Parkinson's disease and schizophrenia. (15719154)
2005
25
123I-FP-CIT SPECT imaging of dopamine transporters in patients with cerebrovascular disease and clinical diagnosis of vascular parkinsonism. (15471834)
2004
26
Comparison of diffusion-weighted imaging and [123I]IBZM-SPECT for the differentiation of patients with the Parkinson variant of multiple system atrophy from those with Parkinson's disease. (15390073)
2004
27
Sleep microstructure and neurodegeneration as measured by [123I]beta-CIT SPECT in treated patients with Parkinson's disease. (15645345)
2004
28
123I-beta-CIT SPECT for imaging serotonin transporters in Parkinson's disease. (15136646)
2004
29
The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes. (12952867)
2003
30
123I-Ioflupane/SPECT binding to striatal dopamine transporter (DAT) uptake in patients with Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy. (14598060)
2003
31
123I] meta-iodobenzylguanidine myocardial scintigraphy differentiates corticobasal degeneration from Parkinson's disease. (12583635)
2003
32
Quantification of dopamine transporter by 123I-PE2I SPECT and the noninvasive Logan graphical method in Parkinson's disease. (12732666)
2003
33
123I]beta-CIT SPECT imaging of dopamine and serotonin transporters in Parkinson's disease and multiple system atrophy. (12601452)
2003
34
Association study for Parkinson's disease and a dopamine transporter gene polymorphism (1215A/G). (12422069)
2002
35
No evidence of association between a dopamine transporter gene polymorphism (1215A/G) and Parkinson's disease. (11220753)
2001
36
The -141C Ins/Del polymorphism of the dopamine D2 receptor gene is not associated with either migraine or Parkinson's disease. (11409701)
2001
37
Measuring the progression of idiopathic Parkinson's disease with [123I] beta-CIT SPECT. (11072750)
2000
38
Phase 2 clinical study of 123I-IBF, a dopamine D2 receptor imaging agent, to evaluate clinical efficacy and safety in Parkinson's disease and Parkinson syndromes]. (10586546)
1999
39
One-day protocol for imaging of the nigrostriatal dopaminergic pathway in Parkinson's disease by [123I]FPCIT SPECT. (10319746)
1999
40
123I-beta-CIT and 123I-IBZM-SPECT scanning in levodopa-naive Parkinson's disease. (9613734)
1998
41
123I]beta-CIT and SPECT in essential tremor and Parkinson's disease. (9928890)
1998
42
SPECT-evaluation of the monoamine uptake site ligand [123I](1R)-2-beta-carbomethoxy-3-beta-(4-iodophenyl)-tropane ([123I]beta-CIT) in untreated patients with suspicion of Parkinson disease. (9394097)
1997
43
123I]beta-CIT single-photon emission tomography in Parkinson's disease reveals a smaller decline in dopamine transporters with age than in controls. (9283113)
1997
44
Evaluation of benzodiazepine receptor in the cerebral cortex of Parkinson's disease using 123I-iomazenil SPECT]. (9014458)
1997
45
123I]FP-CIT SPECT shows a pronounced decline of striatal dopamine transporter labelling in early and advanced Parkinson's disease. (9048712)
1997
46
Practical benefit of [123I]FP-CIT SPET in the demonstration of the dopaminergic deficit in Parkinson's disease. (9044880)
1997
47
Striatal dopamine D2 receptor alterations and response to L-DOPA in Parkinson's disease. A [123I]IBZM SPET study. (8615167)
1996
48
Impairment of benzodiazepine receptor in Parkinson's disease evaluated by 123I-iomazenil SPECT]. (8683878)
1996
49
Alterations of striatal dopamine D2 receptors contribute to deteriorated response to L-dopa in Parkinson's disease: a [123I]-IBZM SPET study. (8748616)
1995
50
SPECT imaging of dopamine D2 receptors with 123I-IBZM: initial experience in controls and patients with Parkinson's syndrome and Wilson's disease. (1838142)
1991

Genetic Variations for Parkinson Disease 1

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Parkinson Disease 1:

63
id Symbol AA change Variation SNP ID
1SNCAp.Ala53ThrVAR_007454
2SNCAp.Ala30ProVAR_007957
3SNCAp.Glu46LysVAR_022703
4SNCAp.His50GlnVAR_070171

Expression for genes affiliated with Parkinson Disease 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology, 54Reactome, 52QIAGEN, 30KEGG
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Compounds for genes affiliated with Parkinson Disease 1

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 29IUPHAR, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1rotenone459.8SNCA, PARK7, PARK2
21 methyl 4 phenylpyridinium459.7SNCA, PARK2
3mg 13245 6010.6SNCA, EIF4G1, PARK2
46-hydroxydopamine459.5PARK2, PARK7, NR4A2, SNCA
5levodopa45 1110.3PINK1, SNCA, LRRK2, PARK7, PARK2
6lysine459.0PARK2, PARK7, SNCA, UCHL1
7dopamine45 29 11 2411.3PARK2, PARK7, LRRK2, NR4A2, SNCA, PINK1
8tyrosine458.1PARK2, PARK7, NR4A2, SH3KBP1, SNCA, UCHL1
9cysteine458.0UCHL1, SNCA, GBA, EIF4G1, PARK7, PARK2
10serine457.5UCHL1, HTRA2, PINK1, SNCA, NR4A2, GBA

GO Terms for genes affiliated with Parkinson Disease 1

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Parkinson Disease 1

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet