PARK8
MCID: LRR001
MIFTS: 33

Lrrk2-Related Parkinson Disease (PARK8) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases categories
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Summaries for Lrrk2-Related Parkinson Disease

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19GeneReviews, 33MalaCards
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MalaCards: Lrrk2-Related Parkinson Disease, also known as lrrk2-associated parkinson disease, is related to parkinson's disease and parkinson disease, late-onset. An important gene associated with Lrrk2-Related Parkinson Disease is LRRK2 (leucine-rich repeat kinase 2), and among its related pathways are Integrated Pancreatic Cancer Pathway and Parkinsons Disease Pathway. The compounds trifluoroethanol and colchicine have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and hematopoietic system.

GeneReviews summary for lrrk2

Aliases & Classifications for Lrrk2-Related Parkinson Disease

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19GeneReviews, 20GeneTests, 62UMLS
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Classifications:



Aliases & Descriptions:

lrrk2-related parkinson disease 19 20
lrrk2-associated parkinson disease 19
parkinson disease, late-onset 62
parkinson disease 8 62
park8 19


Related Diseases for Lrrk2-Related Parkinson Disease

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Lrrk2-Related Parkinson Disease:



Diseases related to lrrk2-related parkinson disease

Symptoms for Lrrk2-Related Parkinson Disease

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Drugs & Therapeutics for Lrrk2-Related Parkinson Disease

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Lrrk2-Related Parkinson Disease

Search NIH Clinical Center for Lrrk2-Related Parkinson Disease

Genetic Tests for Lrrk2-Related Parkinson Disease

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20GeneTests
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Genetic tests related to Lrrk2-Related Parkinson Disease:

id Genetic test Affiliating Genes
1 Lrrk2-Related Parkinson Disease20 LRRK2

Anatomical Context for Lrrk2-Related Parkinson Disease

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Animal Models for Lrrk2-Related Parkinson Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Lrrk2-Related Parkinson Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.6NR4A2, MAPT, LRRK2, GBA
2MP:00053978.3GBA, LRRK2, MAPT, NR4A2
3MP:00053768.0GBA, LRRK2, ADH1C, NR4A2, TBP
4MP:00053787.9GBA, ADH1C, MAPT, NR4A2, TBP
5MP:00107687.6TBP, NR4A2, MAPT, ADH1C, LRRK2, GBA

Publications for Lrrk2-Related Parkinson Disease

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52PubMed
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Articles related to Lrrk2-Related Parkinson Disease:

idTitleAuthorsYear
1
LRRK2-Related Parkinson Disease (20301387)
1993

Variations for Lrrk2-Related Parkinson Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Lrrk2-Related Parkinson Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1MC1RNM_002386.3(MC1R): c.451C> T (p.Arg151Cys)single nucleotide variantPathogenic, risk factorrs1805007GRCh37Chr 16, 89986117: 89986117
2LRRK2NM_198578.3(LRRK2): c.7153G> A (p.Gly2385Arg)single nucleotide variantPathogenic, risk factorrs34778348GRCh37Chr 12, 40757328: 40757328
3GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
4GBANM_001005741.2(GBA): c.1226A> G (p.Asn409Ser)single nucleotide variantPathogenic, risk factorrs76763715GRCh37Chr 1, 155205634: 155205634
5GBANM_001005741.2(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
6GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043

Expression for genes affiliated with Lrrk2-Related Parkinson Disease

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lrrk2-Related Parkinson Disease

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Pathways for genes affiliated with Lrrk2-Related Parkinson Disease

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG
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Compounds for genes affiliated with Lrrk2-Related Parkinson Disease

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Sources:
45Novoseek, 11DrugBank, 61Tocris Bioscience, 3BitterDB, 29IUPHAR, 24HMDB, 51PharmGKB
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Compounds related to Lrrk2-Related Parkinson Disease according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1trifluoroethanol45 1110.8MAPT, ADH1C
2colchicine45 61 3 29 1113.6GBA, MAPT
3tmao459.6TBP, MAPT
4phosphocellulose459.6TBP, MAPT
5choline45 24 1111.5MAPT, ADH1C
6sodium dodecylsulfate459.5MAPT, TBP
7cyclophosphamide45 51 1111.4MAPT, ADH1C
8formaldehyde45 2410.2ADH1C, MAPT, TBP
9glycerol45 24 1111.2ADH1C, MAPT, TBP
10steroid459.1TBP, NR4A2, GBA
11proline459.0GBA, MAPT, TBP
12zinc45 2410.0TBP, MAPT, ADH1C
13cysteine458.8TBP, MAPT, GBA
14dopamine45 29 24 1111.6NR4A2, MAPT, SNCAIP, LRRK2
15retinoic acid45 249.6MAPT, NR4A2, TBP
16serine458.6TBP, NR4A2, MAPT, GBA
17alanine458.6SNCAIP, MAPT, TBP

GO Terms for genes affiliated with Lrrk2-Related Parkinson Disease

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Sources:
16Gene Ontology
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Cellular components related to Lrrk2-Related Parkinson Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:0304249.6MAPT, LRRK2

Biological processes related to Lrrk2-Related Parkinson Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription initiation from RNA polymerase II promoterGO:0063679.4TBP, NR4A2
2neuron migrationGO:0017649.2NR4A2, MAPT
3cell deathGO:0082198.4TBP, SNCAIP, GBA

Molecular functions related to Lrrk2-Related Parkinson Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.2TBP, NR4A2, MAPT, SNCAIP, LRRK2, GBA

Products for genes affiliated with Lrrk2-Related Parkinson Disease

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  • Antibodies
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Sources for Lrrk2-Related Parkinson Disease

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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