MCID: PRK020
MIFTS: 43

Parkinson Disease 6, Early Onset malady

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases, Metabolic diseases

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 49 11
Parkinson Disease Autosomal Recessive Early-Onset Digenic Pink1/dj1 67 24
Autosomal Recessive Early-Onset Parkinson Disease Type 6 67 24
Early-Onset Parkinson Disease 6 10 12
Parkinson Disease 6 67 24
Park6 10 67
 
Parkinson Disease 6, Autosomal Recessive Early-Onset 65
Autosomal Recessive Early-Onset Parkinson Disease 6 10
Parkinson Disease 6 Late-Onset Susceptibility to 67
Parkinson Disease 6 Early-Onset 67
Parkinsonism Young Adult Onset 67

Characteristics:

HPO:

61
parkinson disease 6, early onset:
Onset and clinical course: slow progression, infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 605909
Disease Ontology10 DOID:0060369
UMLS65 C1853833

Summaries for Parkinson Disease 6, Early Onset

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UniProtKB/Swiss-Prot:67 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, late-onset and parkinson disease, juvenile, type 2, and has symptoms including resting tremor, postural instability and bradykinesia. An important gene associated with Parkinson Disease 6, Early Onset is PINK1 (PTEN Induced Putative Kinase 1), and among its related pathways are Pink/Parkin Mediated Mitophagy and Alpha-synuclein signaling. Related mouse phenotypes are cellular and nervous system.

Disease Ontology:10 A Parkinson's disease caused by mutations in the PINK1 gene located on chromosome 1p36.12.

Description from OMIM:49 605909

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 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

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson disease, late-onset29.5LRRK2, MT-ND5, PARK2, PARK7, PINK1
2parkinson disease, juvenile, type 211.6
3visual epilepsy10.2MT-ND5, MT-ND6
4mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.2MT-ND5, MT-ND6
5mitochondrial disorders10.2MT-ND5, MT-ND6
6gemistocytic astrocytoma10.2MT-ND5, MT-ND6
7lipid-rich carcinoma10.2MT-ND5, MT-ND6
8bjornstad syndrome10.2
9lymphoblastic lymphoma10.2
10lymphoma10.2
11sensorineural hearing loss10.2
12common cold10.2
13facial paralysis10.2
14laryngeal carcinoma10.2
15papillary adenoma10.2
16mood disorder10.2
17laryngitis10.2
18adenoma10.2
19pulmonary embolism10.2
20central serous chorioretinopathy10.2
21pili torti10.2
22encephalopathy10.2
23progressive myoclonus epilepsy10.2MT-ND5, MT-ND6
24eczematous dermatitis of eyelid10.2MT-ND5, MT-ND6
25alcoholic cardiomyopathy10.1MT-ND5, MT-ND6
26plexopathy10.0MT-ND5, MT-ND6
27pde6d-related joubert syndrome9.9LRRK2, PARK7
28essential tremor9.8LRRK2, PARK2
29vascular erectile tumor9.8LRRK2, PARK2
30polycystic kidney disease 29.7LRRK2, PARK2
31aspartylglucosaminuria9.7LRRK2, PARK2
32acquired hyperkeratosis9.7ATP13A2, PARK2, PARK7
33snrnp200-related retinitis pigmentosa9.6LRRK2, PARK2, PARK7
34mast syndrome9.6LRRK2, PARK2, PARK7
35supranuclear palsy, progressive atypical9.6LRRK2, PARK2, PARK7
36parkinson disease 19.6LRRK2, PARK2, PARK7
37colon kaposi sarcoma9.6LRRK2, PARK2, PARK7
38coenzyme q10 deficiency, primary, 19.6ATP13A2, PARK2, PARK7, PINK1
39pick disease9.6LRRK2, PARK2
40iron-refractory iron deficiency anemia9.4ATP13A2, FBXO7, PARK2, PARK7
41celiac disease 129.4LRRK2, PARK2, PARK7, PINK1
42central nervous system hereditary degenerative disease9.4LRRK2, PARK2, PARK7, PINK1
43upper lip cancer9.4LRRK2, PARK2, PARK7, PINK1
44atopic dermatitis9.4LRRK2, PARK2, PARK7, PINK1
45epilepsy, progressive myoclonic 1b9.0ATP13A2, LRRK2, PARK2, PARK7, PINK1
46adrenal cortical adenoma9.0ATP13A2, LRRK2, PARK2, PARK7, PINK1
47parkinson disease 6, early onset8.2ATP13A2, FBXO7, LRRK2, MT-ND5, MT-ND6, PARK2

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



Diseases related to parkinson disease 6, early onset

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

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 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pramipexoleapproved, investigationalPhase 4137104632-26-059868, 119570
Synonyms:
(-)-Pramipexole
(6S)-6-N-propyl-4,5,6,7-tetrahydro-1,3-benzothiazole-2,6-diamine
(6S)-N(6)-propyl-4,5,6,7-tetrahydro-1,3-benzothiazole-2,6-diamine
(6S)-N6-propyl-4,5,6,7-tetrahydro-1,3-benzothiazole-2,6-diamine
(S)-2-Amino-4,5,6,7-tetrahydro-6-(propylamino)benzothiazole
(S)-N  6-propyl-4,5,6,7-tetrahydro-1,3-benzothiazole-2,6-diamine
104632-26-0
111GE001
2-amino-4,5,6,7-tetrahydro-6-propylaminobenzothiazole
2-amino-6-propylaminotetrahydrobenzothiazole
AC1L3P1T
BIDD:GT0250
C10H17N3S
CHEBI:8356
CHEMBL301265
CID119570
CPD000449298
D05575
DivK1c_006916
Furfuryl Acetate
HMS2051A21
HMS2090C15
KBio1_001860
KBio2_002340
KBio2_004908
KBio2_007476
 
KBioSS_002343
LS-40722
MLS000758250
MLS001423952
Mirapex
MolPort-003-849-957
NCGC00167441-01
Pramipexol
Pramipexol [Spanish]
Pramipexole
Pramipexole (USAN/INN)
Pramipexole 2HCl Monohydrate
Pramipexole Dihydrochloride Extended-Release
Pramipexole [USAN:INN]
Pramipexole hydrochloride
Pramipexolum
Pramipexolum [Latin]
SAM001247006
SBB070477
SMR000449298
SND-919
SUD919CL2Y
SpecPlus_000820
Spectrum5_001453
Spectrum_001838
U-98528E
pramipexole
2
DopamineapprovedPhase 4308462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3Protective AgentsPhase 45651
4Neurotransmitter AgentsPhase 414795
5Dopamine AgonistsPhase 4544
6Antiparkinson AgentsPhase 41312
7Dopamine AgentsPhase 43084
8AntioxidantsPhase 42442
9Fluorodeoxyglucose F18Phase 2356

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of (Mirapex) Pramipexole for the Early Treatment of Parkinsons Disease (PD)CompletedNCT00321854Phase 4
2Development of a Novel 18F-DTBZ PET Imaging as a Biomarker to Monitor Neurodegeneration of PARK6 and PARK8 ParkinsonismCompletedNCT01759888Phase 2
3A Trial of MitoQ for the Treatment of People With Parkinson's DiseaseCompletedNCT00329056Phase 2
4Imaging and Genetic Biomarkers of Parkinson Disease (PD) Onset and Progression in High-risk FamiliesCompletedNCT00273351Phase 2
5Parkin Mutations and Their Functional ConsequencesActive, not recruitingNCT00136721Phase 1
6Functional Characterization of Parkin + PatientsTerminatedNCT00142311Phase 1
7Hereditary Parkinson s Disease Natural History ProtocolRecruitingNCT02511015
8Genetic Study in Young Onset Parkinson's DiseaseActive, not recruitingNCT01529970
9Early Parkinson's Disease (PD) Cross-SectionalTerminatedNCT00817453

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.3ATP13A2, LRRK2, MT-ND6, PARK2, PARK7, PINK1
2MP:00036317.0ATP13A2, LRRK2, MT-ND6, PARK2, PARK7, 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:

67 (show all 22)
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.Arg407GlnVAR_062778
21PINK1p.Gly409ValVAR_062779
22PINK1p.Gln126ProVAR_064344

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

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1PINK1NM_032409.2(PINK1): c.620delG (p.Arg207Glnfs)deletionPathogenicrs756677845GRCh37Chr 1, 20964567: 20964567
2NM_032409.2(PINK1): c.926G> A (p.Gly309Asp)single nucleotide variantPathogenicrs74315355GRCh37Chr 1, 20971132: 20971132
3NM_032409.2(PINK1): c.813C> A (p.His271Gln)single nucleotide variantPathogenicrs28940284GRCh37Chr 1, 20971019: 20971019
4NM_032409.2(PINK1): c.1311G> A (p.Trp437Ter)single nucleotide variantPathogenicrs74315356GRCh37Chr 1, 20975547: 20975547
5PINK1NM_032409.2(PINK1): c.736C> T (p.Arg246Ter)single nucleotide variantPathogenicrs74315357GRCh37Chr 1, 20966445: 20966445
6NM_032409.2(PINK1): c.1040T> C (p.Leu347Pro)single nucleotide variantPathogenicrs28940285GRCh37Chr 1, 20972133: 20972133
7NM_032409.2(PINK1): c.1570_1573dupTTAG (p.Asp525Valfs)duplicationPathogenicrs730880302GRCh37Chr 1, 20977008: 20977011
8PINK1PINK1, 3-BP INS, 1602CAAinsertionPathogenic
9NM_032409.2(PINK1): c.836G> A (p.Arg279His)single nucleotide variantPathogenicrs74315358GRCh37Chr 1, 20971042: 20971042
10NM_005216.4(DDOST): c.*807_*5409deldeletionPathogenicGRCh38Chr 1, 20646970: 20651572
11NM_032409.2(PINK1): c.938C> T (p.Thr313Met)single nucleotide variantPathogenicrs74315359GRCh37Chr 1, 20971144: 20971144
12PINK1NM_032409.2(PINK1): c.650C> A (p.Ala217Asp)single nucleotide variantPathogenicrs74315360GRCh37Chr 1, 20964597: 20964597
13NM_032409.2(PINK1): c.1366C> T (p.Gln456Ter)single nucleotide variantPathogenicrs45539432GRCh37Chr 1, 20975602: 20975602
14MT-ND6m.14319T> Csingle nucleotide variantrisk factorrs199476110GRCh37Chr MT, 14319: 14319
15MT-ND5m.12397A> Gsingle nucleotide variantrisk factorrs200890363GRCh37Chr MT, 12397: 12397

Expression for genes affiliated with Parkinson Disease 6, Early Onset

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

Pathways 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:00430059.4ATP13A2, MT-ND5
2axonGO:00304249.4LRRK2, PARK7
3mitochondrionGO:00057398.6FBXO7, LRRK2, PARK7

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1regulation of protein ubiquitinationGO:003139610.1PARK2, PINK1
2positive regulation of mitochondrial fissionGO:009014110.1PARK2, PINK1
3regulation of synaptic vesicle transportGO:190280310.1PARK2, PINK1
4cellular response to toxic substanceGO:009723710.1PARK2, PINK1
5regulation of mitophagyGO:190314610.1PARK2, PINK1
6negative regulation of reactive oxygen species metabolic processGO:200037810.1PARK2, PINK1
7negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathwayGO:190338410.1PARK7, PINK1
8activation of protein kinase B activityGO:003214810.1PARK7, PINK1
9positive regulation of mitochondrial electron transport, NADH to ubiquinoneGO:190295810.0PARK7, PINK1
10negative regulation of oxidative stress-induced cell deathGO:190320210.0PARK7, PINK1
11regulation of reactive oxygen species metabolic processGO:200037710.0PARK2, PINK1
12macroautophagyGO:001623610.0PARK2, PINK1
13positive regulation of sequence-specific DNA binding transcription factor activityGO:005109110.0PARK7, PINK1
14positive regulation of protein kinase B signalingGO:00518979.8PARK7, PINK1
15negative regulation of hydrogen peroxide-induced cell deathGO:19032069.8LRRK2, PARK7
16negative regulation of autophagosome assemblyGO:19029029.7LRRK2, PINK1
17cellular response to dopamineGO:19033519.7LRRK2, PARK2
18regulation of canonical Wnt signaling pathwayGO:00608289.7LRRK2, PARK2
19protein localization to mitochondrionGO:00705859.7LRRK2, PARK2
20negative regulation of cell deathGO:00605489.6PARK2, PARK7
21synaptic transmission, dopaminergicGO:00019639.5PARK2, PARK7
22phosphorylationGO:00163109.5LRRK2, PINK1
23mitophagyGO:00004229.4FBXO7, PARK2, PINK1
24peptidyl-serine phosphorylationGO:00181059.2LRRK2, PINK1
25cellular response to oxidative stressGO:00345999.2LRRK2, PARK7, PINK1
26mitochondrion organizationGO:00070058.7LRRK2, PARK2, PARK7, PINK1
27response to oxidative stressGO:00069798.7LRRK2, PARK2, PARK7
28negative regulation of protein phosphorylationGO:00019338.4LRRK2, PARK2, PARK7

Sources for Parkinson Disease 6, Early Onset

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet