MCID: PRK057
MIFTS: 26

Parkinson Disease, Late-Onset malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Mental diseases categories
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Summaries for Parkinson Disease, Late-Onset

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MalaCards based summary: Parkinson Disease, Late-Onset is related to parkinson disease type 9 and prolidase deficiency, and has symptoms including An important gene associated with Parkinson Disease, Late-Onset is GBA (glucosidase, beta, acid). The compounds colchicine and asparagine have been mentioned in the context of this disorder.

Description from OMIM:46 168600

Aliases & Classifications for Parkinson Disease, Late-Onset

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Parkinson Disease, Late-Onset, Aliases & Descriptions:

Name: Parkinson Disease, Late-Onset 46


Classifications:



Related Diseases for Parkinson Disease, Late-Onset

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Graphical network of diseases related to Parkinson Disease, Late-Onset:



Diseases related to parkinson disease, late-onset

Symptoms for Parkinson Disease, Late-Onset

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Symptoms by clinical synopsis from OMIM:

168600

Clinical features from OMIM:

168600

HPO human phenotypes related to Parkinson Disease, Late-Onset:

(show all 24)
id Description Frequency HPO Source Accession
1 hallucinations occasional (7.5%) HP:0000738
2 dysautonomia occasional (7.5%) HP:0002459
3 urinary urgency HP:0000012
4 mask-like facies HP:0000298
5 depression HP:0000716
6 dementia HP:0000726
7 personality changes HP:0000751
8 dysarthria HP:0001260
9 parkinsonism HP:0001300
10 dystonia HP:0001332
11 weak voice HP:0001621
12 dysphagia HP:0002015
13 constipation HP:0002019
14 rigidity HP:0002063
15 bradykinesia HP:0002067
16 postural instability HP:0002172
17 resting tremor HP:0002322
18 sleep disturbance HP:0002360
19 neuronal loss in central nervous system HP:0002529
20 insidious onset HP:0003587
21 progressive disorder HP:0003676
22 short stepped shuffling gait HP:0007311
23 substantia nigra gliosis HP:0011960
24 lewy bodies HP:0100315

Drugs & Therapeutics for Parkinson Disease, Late-Onset

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Drug clinical trials:

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Search NIH Clinical Center for Parkinson Disease, Late-Onset

Genetic Tests for Parkinson Disease, Late-Onset

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Anatomical Context for Parkinson Disease, Late-Onset

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Animal Models for Parkinson Disease, Late-Onset or affiliated genes

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Publications for Parkinson Disease, Late-Onset

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Variations for Parkinson Disease, Late-Onset

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UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease, Late-Onset:

64
id Symbol AA change Variation ID SNP ID
1PARK2p.Cys253TyrVAR_019749
2PARK2p.Arg256CysVAR_019750rs150562946
3PARK2p.Arg275TrpVAR_019752rs34424986
4PARK2p.Asp280AsnVAR_019753

Clinvar genetic disease variations for Parkinson Disease, Late-Onset:

6
id Gene Name Type Significance SNP ID Assembly Location
1MC1RNM_002386.3(MC1R): c.451C> T (p.Arg151Cys)single nucleotide variantPathogenicrs1805007GRCh37Chr 16, 89986117: 89986117
2GLUD2NM_012084.3(GLUD2): c.1492T> G (p.Ser498Ala)single nucleotide variantPathogenicrs9697983GRCh37Chr X, 120183030: 120183030
3GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenicrs421016GRCh37Chr 1, 155205043: 155205043
4GBANM_001005741.2(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenicrs421016GRCh37Chr 1, 155205043: 155205043
5DNAJC13NM_015268.3(DNAJC13): c.2564A> G (p.Asn855Ser)single nucleotide variantPathogenicrs387907571GRCh37Chr 3, 132196839: 132196839
6MT-ND1m.3397A> Gsingle nucleotide variantPathogenicrs199476120GRCh37Chr MT, 3397: 3397

Expression for genes affiliated with Parkinson Disease, Late-Onset

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Expression patterns in normal tissues for genes affiliated with Parkinson Disease, Late-Onset

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Pathways for genes affiliated with Parkinson Disease, Late-Onset

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Compounds for genes affiliated with Parkinson Disease, Late-Onset

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Compounds related to Parkinson Disease, Late-Onset according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1colchicine44 61 2 28 1113.7GBA, PARK2
2asparagine449.7GBA, PARK2
3rotenone449.6PARK2, MT-ND1
4ceramide449.5PARK2, GBA
5nadh44 24 1111.4GLUD2, MT-ND1
6pyruvate449.3MT-ND1, GBA
7leucine449.3GLUD2, GBA, PARK2
8levodopa44 1110.3MC1R, PARK2
9proline449.2GBA, PARK2, MT-ND1
10nad28 2410.1MT-ND1, GLUD2
11glucose449.0MT-ND1, GBA, PARK2
12alanine448.3PARK2, MT-ND1, GLUD2, MC1R
13serine448.3MT-ND1, PARK2, MC1R, GBA

GO Terms for genes affiliated with Parkinson Disease, Late-Onset

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Cellular components related to Parkinson Disease, Late-Onset according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:0057659.5DNAJC13, GBA

Biological processes related to Parkinson Disease, Late-Onset according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.5PARK2, GBA

Molecular functions related to Parkinson Disease, Late-Onset according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin protein ligase bindingGO:0316259.1PARK2, MC1R

Products for genes affiliated with Parkinson Disease, Late-Onset

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  • Antibodies
  • Proteins
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Sources for Parkinson Disease, Late-Onset

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet