MCID: PRK020
MIFTS: 17

Parkinson Disease 6, Early Onset malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Mental diseases categories
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Summaries for Parkinson Disease 6, Early Onset

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MalaCards based summary: Parkinson Disease 6, Early Onset and has symptoms including An important gene associated with Parkinson Disease 6, Early Onset is PINK1 (PTEN induced putative kinase 1). Related mouse phenotypes are behavior/neurological and homeostasis/metabolism.

Description from OMIM:46 605909

Aliases & Classifications for Parkinson Disease 6, Early Onset

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Parkinson Disease 6, Early Onset, Aliases & Descriptions:

Name: Parkinson Disease 6, Early Onset 46


Classifications:



Symptoms for Parkinson Disease 6, Early Onset

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Symptoms by clinical synopsis from OMIM:

605909

Clinical features from OMIM:

605909

HPO human phenotypes related to Parkinson Disease 6, Early Onset:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 urinary urgency HP:0000012
3 depression HP:0000716
4 dementia HP:0000726
5 anxiety HP:0000739
6 parkinsonism HP:0001300
7 dystonia HP:0001332
8 hyperreflexia HP:0001347
9 rigidity HP:0002063
10 bradykinesia HP:0002067
11 postural instability HP:0002172
12 resting tremor HP:0002322
13 infantile onset HP:0003593
14 slow progression HP:0003677

Drugs & Therapeutics for Parkinson Disease 6, Early Onset

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Drug clinical trials:

Search ClinicalTrials for Parkinson Disease 6, Early Onset

Search NIH Clinical Center for Parkinson Disease 6, Early Onset

Genetic Tests for Parkinson Disease 6, Early Onset

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Anatomical Context for Parkinson Disease 6, Early Onset

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Animal Models for Parkinson Disease 6, Early Onset or affiliated genes

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MGI Mouse Phenotypes related to Parkinson Disease 6, Early Onset:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1ASL, PINK1
2MP:00053769.1ASL, PINK1
3MP:00053879.0ASL, PINK1
4MP:00053788.8ASL, PINK1

Publications for Parkinson Disease 6, Early Onset

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Variations for Parkinson Disease 6, Early Onset

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UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 6, Early Onset:

64 (show all 23)
id Symbol AA change Variation ID SNP ID
1PINK1p.Gly309AspVAR_018994
2PINK1p.Cys92PheVAR_046568
3PINK1p.Ala168ProVAR_046575
4PINK1p.Pro196LeuVAR_046577
5PINK1p.Ala217AspVAR_046578
6PINK1p.Glu240LysVAR_046581
7PINK1p.Leu268ValVAR_046584
8PINK1p.His271GlnVAR_046585
9PINK1p.Arg279HisVAR_046587
10PINK1p.Thr313MetVAR_046589
11PINK1p.Leu347ProVAR_046593
12PINK1p.Cys388ArgVAR_046596
13PINK1p.Glu417GlyVAR_046599
14PINK1p.Arg464HisVAR_046605
15PINK1p.Leu489ProVAR_046607
16PINK1p.Cys125GlyVAR_062773
17PINK1p.Ala280ThrVAR_062774
18PINK1p.Leu369ProVAR_062775
19PINK1p.Gly386AlaVAR_062776
20PINK1p.Pro399LeuVAR_062777
21PINK1p.Arg407GlnVAR_062778
22PINK1p.Gly409ValVAR_062779
23PINK1p.Gln126ProVAR_064344

Clinvar genetic disease variations for Parkinson Disease 6, Early Onset:

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1NM_032409.2(PINK1): c.926G> A (p.Gly309Asp)single nucleotide variantPathogenicrs74315355GRCh37Chr 1, 20971132: 20971132
2NM_032409.2(PINK1): c.813C> A (p.His271Gln)single nucleotide variantPathogenicrs28940284GRCh37Chr 1, 20971019: 20971019
3NM_032409.2(PINK1): c.1311G> A (p.Trp437Ter)single nucleotide variantPathogenicrs74315356GRCh37Chr 1, 20975547: 20975547
4PINK1NM_032409.2(PINK1): c.736C> T (p.Arg246Ter)single nucleotide variantPathogenicrs74315357GRCh37Chr 1, 20966445: 20966445
5NM_032409.2(PINK1): c.1040T> C (p.Leu347Pro)single nucleotide variantPathogenicrs28940285GRCh37Chr 1, 20972133: 20972133
6PINK1PINK1, 4-BP INS, 1573TTAGinsertionPathogenic
7PINK1PINK1, 3-BP INS, 1602CAAinsertionPathogenic
8NM_032409.2(PINK1): c.836G> A (p.Arg279His)single nucleotide variantPathogenicrs74315358GRCh37Chr 1, 20971042: 20971042
9PINK1PINK1, EX6-8DELdeletionPathogenic
10NM_032409.2(PINK1): c.938C> T (p.Thr313Met)single nucleotide variantPathogenicrs74315359GRCh37Chr 1, 20971144: 20971144
11PINK1NM_032409.2(PINK1): c.650C> A (p.Ala217Asp)single nucleotide variantPathogenicrs74315360GRCh37Chr 1, 20964597: 20964597
12NM_032409.2(PINK1): c.1366C> T (p.Gln456Ter)single nucleotide variantPathogenicrs45539432GRCh37Chr 1, 20975602: 20975602

Expression for genes affiliated with Parkinson Disease 6, Early Onset

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Expression patterns in normal tissues for genes affiliated with Parkinson Disease 6, Early Onset

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Pathways for genes affiliated with Parkinson Disease 6, Early Onset

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Compounds for genes affiliated with Parkinson Disease 6, Early Onset

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GO Terms for genes affiliated with Parkinson Disease 6, Early Onset

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Cellular components related to Parkinson Disease 6, Early Onset according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058299.1ASL, PINK1

Products for genes affiliated with Parkinson Disease 6, Early Onset

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  • Antibodies
  • Proteins
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Sources for Parkinson Disease 6, Early 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