PARK8
MCID: LRR001
MIFTS: 33

Lrrk2-Related Parkinson Disease (PARK8) malady

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

Summaries for Lrrk2-Related Parkinson Disease

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20GeneReviews, 34MalaCards
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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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20GeneReviews, 21GeneTests, 63UMLS
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Classifications:



Aliases & Descriptions:

lrrk2-related parkinson disease 20 21
lrrk2-associated parkinson disease 20
parkinson disease, late-onset 63
parkinson disease 8 63
park8 20


Related Diseases for Lrrk2-Related Parkinson Disease

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Lrrk2-Related Parkinson Disease

Search CenterWatch for Lrrk2-Related Parkinson Disease

Genetic Tests for Lrrk2-Related Parkinson Disease

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21GeneTests
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Genetic tests related to Lrrk2-Related Parkinson Disease:

id Genetic test Affiliating Genes
1 Lrrk2-Related Parkinson Disease21 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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38MGI
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MGI Mouse Phenotypes related to Lrrk2-Related Parkinson Disease:

38
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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53PubMed
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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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Sources:
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, 16Gene 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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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG
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Compounds for genes affiliated with Lrrk2-Related Parkinson Disease

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Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 3BitterDB, 30IUPHAR, 25HMDB, 52PharmGKB
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Compounds related to Lrrk2-Related Parkinson Disease according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1trifluoroethanol46 1210.8MAPT, ADH1C
2colchicine46 62 3 30 1213.6GBA, MAPT
3tmao469.6TBP, MAPT
4phosphocellulose469.6TBP, MAPT
5choline46 25 1211.5MAPT, ADH1C
6sodium dodecylsulfate469.5MAPT, TBP
7cyclophosphamide46 52 1211.4MAPT, ADH1C
8formaldehyde46 2510.2ADH1C, MAPT, TBP
9glycerol46 25 1211.2ADH1C, MAPT, TBP
10steroid469.1TBP, NR4A2, GBA
11proline469.0GBA, MAPT, TBP
12zinc46 2510.0TBP, MAPT, ADH1C
13cysteine468.8TBP, MAPT, GBA
14dopamine46 30 25 1211.6NR4A2, MAPT, SNCAIP, LRRK2
15retinoic acid46 259.6MAPT, NR4A2, TBP
16serine468.6TBP, NR4A2, MAPT, GBA
17alanine468.6SNCAIP, MAPT, TBP

GO Terms for genes affiliated with Lrrk2-Related Parkinson Disease

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Sources:
17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet