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PARK6
MCID: PRK020
MIFTS: 46

Parkinson Disease 6, Early Onset (PARK6) malady

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases, Metabolic diseases
Genes Variations Related diseases Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Parkinson Disease 6, Early Onset

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Aliases & Descriptions for Parkinson Disease 6, Early Onset:

Name: Parkinson Disease 6, Early Onset 54 13
Parkinson Disease Autosomal Recessive Early-Onset Digenic Pink1/dj1 66 29
Autosomal Recessive Early-Onset Parkinson Disease Type 6 66 29
Parkinson Disease 6 66 29
Parkinson Disease 6, Autosomal Recessive Early-Onset 69
Autosomal Recessive Early-Onset Parkinson Disease 6 12
Parkinson Disease 6 Late-Onset Susceptibility to 66
Early-Onset Parkinson Disease 6 12
Parkinson Disease 6 Early-Onset 66
Parkinsonism Young Adult Onset 66
Park6 66

Characteristics:

HPO:

32
parkinson disease 6, early onset:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 54 605909
Disease Ontology 12 DOID:0060369
Sources

Summaries for Parkinson Disease 6, Early Onset

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UniProtKB/Swiss-Prot : 66 Parkinson disease 6: A neurodegenerative disorder characterized by parkinsonian signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal fluctuation and can improve after sleep.

MalaCards based summary : Parkinson Disease 6, Early Onset, also known as parkinson disease autosomal recessive early-onset digenic pink1/dj1, is related to parkinson disease, juvenile, type 2 and parkinson disease, late-onset, and has symptoms including dystonia, bradykinesia and depression. An important gene associated with Parkinson Disease 6, Early Onset is PINK1 (PTEN Induced Putative Kinase 1), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Neuroscience. The drugs Dopamine and Pramipexole have been mentioned in the context of this disorder. Related phenotypes are cellular and nervous system

Disease Ontology : 12 A Parkinson's disease that has material basis in mutations in the PINK1 gene on chromosome 1p36.12.

Description from OMIM: 605909
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Related Diseases for Parkinson Disease 6, Early Onset

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Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 7, Autosomal Recessive Early-Onset Parkinson Disease 6, Early Onset
Parkinson Disease 19, Juvenile-Onset Parkinson Disease 10
Parkinson Disease 16 Parkinson Disease 13
Parkinson Disease 11 Parkinson Disease 21
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 15, Autosomal Recessive Parkinson Disease 14, Autosomal Recessive
Parkinson Disease 12 Juvenile Onset Parkinson Disease 19a
Juvenile-Onset Parkinson Disease Early-Onset Parkinson Disease
Lrrk2-Related Parkinson Disease Parkinson Disease Type 3
Parkinson Disease Type 9 Dnajc6-Related Parkinson Disease
Eif4g1-Related Parkinson Disease Gigyf2-Related Parkinson Disease
Pla2g6-Related Parkinson Disease Synj1-Related Parkinson Disease
Fbxo7-Related Parkinson Disease Htra2-Related Parkinson Disease
Park7-Related Parkinson Disease Snca-Related Parkinson Disease
Vps35-Related Parkinson Disease Hereditary Late-Onset Parkinson Disease
Parkinson Disease 22 Parkinson Disease 23, Autosomal Recessive, Early Onset

Diseases related to Parkinson Disease 6, Early Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
id Related Disease Score Top Affiliating Genes
1 parkinson disease, juvenile, type 2 11.1
2 parkinson disease, late-onset 11.0
3 multiple system atrophy 10.1 PARK7 PINK1
4 enteropathica 10.1 MT-ND5 MT-ND6
5 retromolar area cancer 10.1 MT-ND5 MT-ND6
6 ndp-related retinopathies 10.1 MT-ND5 MT-ND6
7 nerve fibre bundle defect 10.0 MT-ND5 MT-ND6
8 allergic contact dermatitis of eyelid 10.0 MT-ND5 MT-ND6
9 kufor-rakeb syndrome 9.9 ATP13A2 PARK7 PINK1
10 spink1-related hereditary pancreatitis 9.9 LRRK2 PARK7
11 mucinous intrahepatic cholangiocarcinoma 9.9 MT-ND5 MT-ND6
12 meier-gorlin syndrome 5 9.9 LRRK2 PARK7
13 ceroid lipofuscinosis, neuronal, 1 9.8 LRRK2 PARK7 PINK1
14 lethal congenital contracture syndrome 8 9.8 LRRK2 PARK7 PINK1
15 trichothiodystrophy 3, photosensitive 9.8 LRRK2 PARK7 PINK1
16 hypoproteinemia, hypercatabolic 9.8 LRRK2 PARK7 PINK1
17 cavernous hemangioma 9.8 LRRK2 PARK7 PINK1
18 hemochromatosis, type 2a 9.8 LRRK2 PARK7 PINK1
19 substance-induced psychosis 9.8 LRRK2 PARK7 PINK1
20 plekhm1-related autosomal recessive osteopetrosis 9.7 ATP13A2 LRRK2 PARK7
21 thrombosis 9.6 ATP13A2 LRRK2 PARK7 PINK1
22 klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 9.6 ATP13A2 LRRK2 PARK7 PINK1
23 gallbladder adenoma 9.6 ATP13A2 LRRK2 PARK7 PINK1

Graphical network of the top 20 diseases related to Parkinson Disease 6, Early Onset:



Diseases related to Parkinson Disease 6, Early Onset
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Symptoms & Phenotypes for Parkinson Disease 6, Early Onset

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Symptoms by clinical synopsis from OMIM:

605909

Clinical features from OMIM:

605909

Human phenotypes related to Parkinson Disease 6, Early Onset:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 dystonia 32 HP:0001332
2 bradykinesia 32 HP:0002067
3 depression 32 HP:0000716
4 hyperreflexia 32 HP:0001347
5 anxiety 32 HP:0000739
6 rigidity 32 HP:0002063
7 dementia 32 HP:0000726
8 parkinsonism 32 HP:0001300
9 postural instability 32 HP:0002172
10 urinary urgency 32 HP:0000012
11 resting tremor 32 HP:0002322

UMLS symptoms related to Parkinson Disease 6, Early Onset:


muscle rigidity, bradykinesia

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.63 ATP13A2 LRRK2 MT-ND6 PARK7 PINK1 PTEN
2 nervous system MP:0003631 9.43 ATP13A2 LRRK2 MT-ND6 PARK7 PINK1 PTEN
3 pigmentation MP:0001186 8.8 ATP13A2 LRRK2 PTEN
Sources

Drugs & Therapeutics for Parkinson Disease 6, Early Onset

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Drugs for Parkinson Disease 6, Early Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
3 Dopamine agonists Phase 4
4 Neurotransmitter Agents Phase 4,Phase 3,Early Phase 1
5 Dopamine Agents Phase 4
6 Protective Agents Phase 4,Phase 3
7 Antioxidants Phase 4
8 Antiparkinson Agents Phase 4
9
Rivastigmine Approved, Investigational Phase 3 123441-03-2 77991
10 Cholinergic Agents Phase 3
11 Cholinesterase Inhibitors Phase 3
12 Neuroprotective Agents Phase 3
13 Fluorodeoxyglucose F18 Phase 2
14
Histamine Approved, Investigational Early Phase 1 75614-87-8, 51-45-6 774
15
Doxepin Approved Early Phase 1 1668-19-5 667477 667468
16
Zopiclone Approved Early Phase 1 43200-80-2 5735
17
Ethanol Approved 64-17-5 702
18
Histamine Phosphate Early Phase 1 51-74-1 65513
19 Histamine Antagonists Early Phase 1
20 Hypnotics and Sedatives Early Phase 1
21 Antidepressive Agents Early Phase 1
22 Antidepressive Agents, Tricyclic Early Phase 1
23 Psychotropic Drugs Early Phase 1
24 Central Nervous System Depressants Early Phase 1
25 Phenylethyl Alcohol

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Study of (Mirapex) Pramipexole for the Early Treatment of Parkinsons Disease (PD) Completed NCT00321854 Phase 4
2 Efficacy of RIVAstigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear Palsy Recruiting NCT02839642 Phase 3
3 Development of a Novel 18F-DTBZ PET Imaging as a Biomarker to Monitor Neurodegeneration of PARK6 and PARK8 Parkinsonism Completed NCT01759888 Phase 2
4 A Trial of MitoQ for the Treatment of People With Parkinson's Disease Completed NCT00329056 Phase 2
5 Imaging and Genetic Biomarkers of Parkinson Disease (PD) Onset and Progression in High-risk Families Completed NCT00273351 Phase 2
6 Parkin Mutations and Their Functional Consequences Unknown status NCT00136721 Phase 1
7 Functional Characterization of Parkin + Patients Terminated NCT00142311 Phase 1
8 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970
9 Treatments for Insomnia in Patients With Parkinson's Disease Completed NCT01489982 Early Phase 1
10 Hereditary Parkinson s Disease Natural History Protocol Recruiting NCT02511015
11 The Swedish BioFINDER 2 Study Recruiting NCT03174938
12 Early Parkinson's Disease (PD) Cross-Sectional Terminated NCT00817453
13 Unique Brainstem Biomarkers of Early Parkinson's Disease Terminated NCT02761707

Search NIH Clinical Center for Parkinson Disease 6, Early Onset

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Genetic Tests for Parkinson Disease 6, Early Onset

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Genetic tests related to Parkinson Disease 6, Early Onset:

id Genetic test Affiliating Genes
1 Parkinson Disease 6, Autosomal Recessive Early-Onset 29
2 Parkinson Disease 6 29
3 Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/dj1 29
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Anatomical Context for Parkinson Disease 6, Early Onset

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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:

66 (show all 22)
id Symbol AA change Variation ID SNP ID
1 PINK1 p.Gly309Asp VAR_018994 rs74315355
2 PINK1 p.Cys92Phe VAR_046568
3 PINK1 p.Ala168Pro VAR_046575 rs768091663
4 PINK1 p.Pro196Leu VAR_046577 rs138302371
5 PINK1 p.Ala217Asp VAR_046578 rs74315360
6 PINK1 p.Glu240Lys VAR_046581 rs573931674
7 PINK1 p.Leu268Val VAR_046584 rs372280083
8 PINK1 p.His271Gln VAR_046585 rs28940284
9 PINK1 p.Arg279His VAR_046587 rs74315358
10 PINK1 p.Thr313Met VAR_046589 rs74315359
11 PINK1 p.Leu347Pro VAR_046593 rs28940285
12 PINK1 p.Cys388Arg VAR_046596
13 PINK1 p.Glu417Gly VAR_046599
14 PINK1 p.Arg464His VAR_046605 rs764328076
15 PINK1 p.Leu489Pro VAR_046607
16 PINK1 p.Cys125Gly VAR_062773
17 PINK1 p.Ala280Thr VAR_062774 rs772510148
18 PINK1 p.Leu369Pro VAR_062775
19 PINK1 p.Gly386Ala VAR_062776
20 PINK1 p.Arg407Gln VAR_062778 rs556540177
21 PINK1 p.Gly409Val VAR_062779
22 PINK1 p.Gln126Pro VAR_064344

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

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 PINK1 NM_032409.2(PINK1): c.926G> A (p.Gly309Asp) single nucleotide variant Pathogenic rs74315355 GRCh37 Chromosome 1, 20971132: 20971132
2 PINK1 NM_032409.2(PINK1): c.813C> A (p.His271Gln) single nucleotide variant Pathogenic rs28940284 GRCh37 Chromosome 1, 20971019: 20971019
3 PINK1 NM_032409.2(PINK1): c.1311G> A (p.Trp437Ter) single nucleotide variant Pathogenic rs74315356 GRCh37 Chromosome 1, 20975547: 20975547
4 PINK1 NM_032409.2(PINK1): c.736C> T (p.Arg246Ter) single nucleotide variant Pathogenic rs74315357 GRCh37 Chromosome 1, 20966445: 20966445
5 PINK1 NM_032409.2(PINK1): c.1040T> C (p.Leu347Pro) single nucleotide variant Pathogenic rs28940285 GRCh37 Chromosome 1, 20972133: 20972133
6 PINK1 NM_032409.2(PINK1): c.1570_1573dupTTAG (p.Asp525Valfs) duplication Pathogenic rs730880302 GRCh37 Chromosome 1, 20977008: 20977011
7 PINK1 PINK1, 3-BP INS, 1602CAA insertion Pathogenic
8 PINK1 NM_032409.2(PINK1): c.836G> A (p.Arg279His) single nucleotide variant Pathogenic rs74315358 GRCh37 Chromosome 1, 20971042: 20971042
9 PINK1 NM_005216.4(DDOST): c.*807_*5409del deletion Pathogenic GRCh38 Chromosome 1, 20646970: 20651572
10 PINK1 NM_032409.2(PINK1): c.938C> T (p.Thr313Met) single nucleotide variant Pathogenic rs74315359 GRCh37 Chromosome 1, 20971144: 20971144
11 PINK1 NM_032409.2(PINK1): c.650C> A (p.Ala217Asp) single nucleotide variant Pathogenic rs74315360 GRCh37 Chromosome 1, 20964597: 20964597
12 PINK1 NM_032409.2(PINK1): c.1366C> T (p.Gln456Ter) single nucleotide variant Pathogenic rs45539432 GRCh37 Chromosome 1, 20975602: 20975602
13 PARK7 NM_007262.4(PARK7): c.115G> T (p.Ala39Ser) single nucleotide variant Pathogenic rs137853051 GRCh37 Chromosome 1, 8025408: 8025408
14 MT-ND6 m.14319T> C single nucleotide variant risk factor rs199476110 GRCh37 Chromosome MT, 14319: 14319
15 MT-ND5 m.12397A> G single nucleotide variant risk factor rs200890363 GRCh37 Chromosome MT, 12397: 12397
16 PINK1 NM_032409.2(PINK1): c.620delG (p.Arg207Glnfs) deletion Pathogenic rs756677845 GRCh37 Chromosome 1, 20964567: 20964567
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Expression for Parkinson Disease 6, Early Onset

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Search GEO for disease gene expression data for Parkinson Disease 6, Early Onset.
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Pathways for Parkinson Disease 6, Early Onset

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Pathways related to Parkinson Disease 6, Early Onset according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 62
Show member pathways
 12.75 LRRK2 MT-ND5 MT-ND6 PARK7 PINK1
2
Neuroscience 4
11.43 ATP13A2 LRRK2 PARK7 PINK1
3
PI3K / Akt Signaling 4
11.2 PARK7 PTEN
4
Parkinsons Disease Pathway 1
11.06 LRRK2 PARK7 PINK1
Sources

GO Terms for Parkinson Disease 6, Early Onset

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Cellular components related to Parkinson Disease 6, Early Onset according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.55 LRRK2 MT-ND5 PARK7 PINK1 PTEN
2 cell body GO:0044297 9.43 PARK7 PINK1
3 axon GO:0030424 9.43 LRRK2 PARK7 PINK1
4 mitochondrial intermembrane space GO:0005758 9.4 PARK7 PINK1
5 respiratory chain GO:0070469 9.37 MT-ND5 MT-ND6
6 mitochondrial respiratory chain complex I GO:0005747 9.32 MT-ND5 PARK7
7 mitochondrial inner membrane GO:0005743 9.26 LRRK2 MT-ND5 MT-ND6 PINK1
8 neuron projection GO:0043005 9.02 ATP13A2 LRRK2 MT-ND5 PARK7 PTEN

Biological processes related to Parkinson Disease 6, Early Onset according to GeneCards Suite gene sharing:

(show all 31)
id Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.76 LRRK2 PARK7 PINK1
2 protein stabilization GO:0050821 9.75 PARK7 PINK1 PTEN
3 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.69 PARK7 PINK1 PTEN
4 positive regulation of protein kinase B signaling GO:0051897 9.65 PARK7 PINK1
5 canonical Wnt signaling pathway GO:0060070 9.65 LRRK2 PTEN
6 mitochondrion organization GO:0007005 9.65 LRRK2 PARK7 PINK1
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.64 PARK7 PINK1
8 mitochondrial respiratory chain complex I assembly GO:0032981 9.64 MT-ND5 MT-ND6
9 positive regulation of protein ubiquitination GO:0031398 9.63 LRRK2 PINK1
10 negative regulation of protein binding GO:0032091 9.63 LRRK2 PARK7
11 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.62 MT-ND5 MT-ND6
12 regulation of mitochondrial membrane potential GO:0051881 9.62 PARK7 PINK1
13 regulation of mitophagy GO:1903146 9.61 ATP13A2 PINK1
14 activation of protein kinase B activity GO:0032148 9.61 PARK7 PINK1
15 negative regulation of protein phosphorylation GO:0001933 9.61 LRRK2 PARK7 PTEN
16 regulation of neuron apoptotic process GO:0043523 9.6 PARK7 PINK1
17 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.59 LRRK2 PARK7
18 response to hydrogen peroxide GO:0042542 9.58 MT-ND5 MT-ND6 PARK7
19 regulation of mitochondrion organization GO:0010821 9.57 ATP13A2 PINK1
20 negative regulation of macroautophagy GO:0016242 9.56 LRRK2 PINK1
21 negative regulation of oxidative stress-induced neuron death GO:1903204 9.55 PARK7 PINK1
22 negative regulation of autophagosome assembly GO:1902902 9.54 LRRK2 PINK1
23 negative regulation of neuron death GO:1901215 9.54 ATP13A2 LRRK2 PARK7
24 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.52 LRRK2 PARK7
25 negative regulation of excitatory postsynaptic potential GO:0090394 9.49 LRRK2 PTEN
26 cellular response to manganese ion GO:0071287 9.46 ATP13A2 LRRK2
27 regulation of synaptic vesicle transport GO:1902803 9.32 LRRK2 PINK1
28 negative regulation of oxidative stress-induced cell death GO:1903202 9.26 PARK7 PINK1
29 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 9.16 PARK7 PINK1
30 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 8.96 PARK7 PINK1
31 cellular response to oxidative stress GO:0034599 8.92 ATP13A2 LRRK2 PARK7 PINK1

Molecular functions related to Parkinson Disease 6, Early Onset according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.16 MT-ND5 MT-ND6
2 ubiquitin-specific protease binding GO:1990381 8.96 PARK7 PTEN
3 cupric ion binding GO:1903135 8.62 ATP13A2 PARK7
Sources

Sources for Parkinson Disease 6, Early Onset

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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