MCID: PRK024
MIFTS: 49

Parkinson Disease, Juvenile, Type 2 malady

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

Aliases & Classifications for Parkinson Disease, Juvenile, Type 2

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Aliases & Descriptions for Parkinson Disease, Juvenile, Type 2:

Name: Parkinson Disease, Juvenile, Type 2 50 12
Parkinson Disease 2 46 68 25
Park2 11 46 68
Autosomal Recessive Juvenile Parkinson Disease 46 68
Early-Onset Parkinson Disease 46 52
Young-Onset Parkinson Disease 46 52
Pdj 46 68
Autosomal Recessive Early-Onset Parkinson Disease Type 2 68
Chromosome 6-Linked Autosomal Recessive Parkinsonism 68
Parkinsonism, Early Onset, with Diurnal Fluctuation 46
 
Parkinson Disease Autosomal Recessive, Early Onset 46
Parkinson Disease 2, Autosomal Recessive Juvenile 66
Early-Onset Parkinsonism with Diurnal Fluctuation 68
Autosomal Recessive Juvenile Parkinson Disease 2 11
Parkinsonism Young Adult Onset 68
Parkinsonism, Juvenile 66
Juvenile Parkinsonism 46
Yopd 52
Epdf 68
Jp 46

Characteristics:

Orphanet epidemiological data:

52
early-onset parkinson disease:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Adult; Age of death: elderly

HPO:

62
parkinson disease, juvenile, type 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: adult onset


Classifications:



External Ids:

OMIM50 600116
Disease Ontology11 DOID:0060368
Orphanet52 ORPHA2828
ICD10 via Orphanet29 G20
MedGen35 C1868675
MeSH37 D020734

Summaries for Parkinson Disease, Juvenile, Type 2

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UniProtKB/Swiss-Prot:68 Parkinson disease 2: A neurodegenerative disorder characterized by bradykinesia, rigidity, postural instability, tremor, and onset usually before 40. It differs from classic Parkinson disease by early DOPA-induced dyskinesia, diurnal fluctuation of the symptoms, sleep benefit, dystonia and hyper-reflexia. Dementia is absent. Pathologically, patients show loss of dopaminergic neurons in the substantia nigra, similar to that seen in Parkinson disease; however, Lewy bodies (intraneuronal accumulations of aggregated proteins) are absent.

MalaCards based summary: Parkinson Disease, Juvenile, Type 2, also known as parkinson disease 2, is related to parkinson disease 1 and parkinson disease 6, early onset, and has symptoms including muscle rigidity, muscle rigidity and tremor. An important gene associated with Parkinson Disease, Juvenile, Type 2 is PARK2 (Parkin RBR E3 Ubiquitin Protein Ligase), and among its related pathways are Mitophagy and Alpha-synuclein signaling. Related mouse phenotypes are cardiovascular system and behavior/neurological.

Disease Ontology:11 A parkinson's disease caused by mutation in the parkin gene, park2, on chromosome 6q25.2-q27.

Description from OMIM:50 600116

Related Diseases for Parkinson Disease, Juvenile, Type 2

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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 Parkinson Disease 22
Parkinson Disease 23, Autosomal Recessive, Early Onset

Diseases related to Parkinson Disease, Juvenile, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson disease 130.6LRRK2, PARK2, SNCA
2parkinson disease 6, early onset30.4LRRK2, PARK2, PARK7, PINK1
3essential tremor30.1HTRA2, LRRK2, PARK2, SNCA
4parkinson disease 1029.8LRRK2, PARK2, PARK7, PINK1, SNCA
5parkinson disease, late-onset28.7LRRK2, PACRG, PARK2, PARK7, PINK1, SNCA
6pink1 type of young-onset parkinson disease12.5
7atypical juvenile parkinsonism11.9
8polyposis, juvenile intestinal11.6
9juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome11.4
10lung cancer11.4
11leprosy11.4
12multiple system atrophy11.0
13angelman syndrome11.0
14epilepsy, progressive myoclonic 2b11.0
15liddle syndrome11.0
16supranuclear palsy, progressive11.0
17synucleinopathy11.0
18dementia11.0
19paratyphoid fever11.0
20progressive myoclonus epilepsy11.0
21parkin type of early-onset parkinson disease11.0
22tremor11.0
23ovarian cancer, somatic10.9
24rapp-hodgkin syndrome10.9
25dementia, lewy body10.9
26spinocerebellar ataxia, autosomal recessive 110.9
27parkinson disease 810.9
28dementia, frontotemporal10.9
29johanson-blizzard syndrome10.9
30amyotrophic lateral sclerosis-parkinsonism/dementia complex10.9
31fanconi anemia, complementation group a10.9
32parkinson disease 15, autosomal recessive10.9
33multifocal dystonia10.9
34autosomal recessive non-syndromic intellectual disability10.9
35bell's palsy10.9
36parkinson disease susceptibility10.9
37classic rett syndrome10.9
38dysautonomia10.9
39hypersomnia10.9
40central nervous system disease10.7
41nervous system disease10.7
42colorectal cancer10.5
43epileptic hemiplegia10.2PARK2, SNCA
44hypotrichosis 710.1PARK2, SNCA
45chronic interstitial cystitis10.0
46klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism10.0PARK2, PARK7, SNCA
47glioma susceptibility 19.9
48kufor-rakeb syndrome9.9PARK7, PINK1
49renal cell carcinoma9.8
50attention deficit-hyperactivity disorder9.8

Graphical network of the top 20 diseases related to Parkinson Disease, Juvenile, Type 2:



Diseases related to parkinson disease, juvenile, type 2

Symptoms for Parkinson Disease, Juvenile, Type 2

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Symptoms by clinical synopsis from OMIM:

600116

Clinical features from OMIM:

600116

HPO human phenotypes related to Parkinson Disease, Juvenile, Type 2:

(show all 9)
id Description Frequency HPO Source Accession
1 gait disturbance HP:0001288
2 parkinsonism HP:0001300
3 dystonia HP:0001332
4 tremor HP:0001337
5 hyperreflexia HP:0001347
6 rigidity HP:0002063
7 bradykinesia HP:0002067
8 postural instability HP:0002172
9 substantia nigra gliosis HP:0011960

UMLS symptoms related to Parkinson Disease, Juvenile, Type 2:


muscle rigidity, tremor, bradykinesia

Drugs & Therapeutics for Parkinson Disease, Juvenile, Type 2

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Drugs for Parkinson Disease, Juvenile, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Dopamine agonistsPhase 2611
2
DopaminePhase 2367851-61-6, 62-31-7681
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 [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
3
BromocriptinePhase 23025614-03-331101
Synonyms:
(5'alpha)-2-bromo-12'-hydroxy-2'-(1-methylethyl)-5'-(2-methylpropyl)-3',6',18-trioxoergotaman
(5'alpha)-2-bromo-12'-hydroxy-2'-(1-methylethyl)-5'-(2-methylpropyl)ergotaman-3',6',18-trione
(5'alpha)-2-bromo-12'-hydroxy-5'-(2-methylpropyl)-2'-(propan-2-yl)-3',6',18-trioxoergotaman
(5'alpha)-2-bromo-12'-hydroxy-5'-isobutyl-2'-isopropyl-3',6',18-trioxoergotaman
(6aR,9R)-5-Bromo-N-((2R,5S,10aS,10bS)-10b-hydroxy-5-isobutyl-2-isopropyl-3,6-dioxooctahydro-2H-oxazolo[3,2-a]pyrrolo[2,1-c]pyrazin-2-yl)-7-methyl-4,6,6a,7,8,9-hexahydroindolo[4,3-fg]quinoline-9-carboxamide
2-Bromo-12'-hydroxy-2'-(1-methylethyl)-5'-alpha-(2-methylpropyl)ergotamin-3',6',18-trione
2-Bromo-alpha-ergocryptine
2-Bromo-alpha-ergokryptin
2-Bromo-alpha-ergokryptine
2-Bromoergocryptine Methanesulfonate
2-Bromoergokryptine
2-bromo-α-ergocryptine
2-bromo-α-ergokryptin
2-bromo-α-ergokryptine
22260-51-1 (mesylate (salt))
25614-03-3
AC-13601
AC1L1KXS
AC1Q2716
Alti-Bromocriptine
Apo-Bromocriptine
BIDD:GT0464
BPBio1_001131
BRD-K14496212-001-01-1
Bagren
Biomol-NT_000005
Bromergocryptine
Bromocriptin
Bromocriptina
Bromocriptina [INN-Spanish]
Bromocriptine (USAN/INN)
Bromocriptine Methanesulfonate
Bromocriptine [BAN]
Bromocriptine [USAN:BAN:INN]
 
Bromocriptine methanesulfonate
Bromocriptinum
Bromocriptinum [INN-Latin]
Bromocryptin
Bromocryptine
Bromoergocriptine
Bromoergocryptine
C06856
C32H40BrN5O5
CB-154
CCRIS 3244
CHEBI:3181
CHEMBL493
CID31101
D03165
DB01200
EINECS 247-128-5
Ergocryptine, 2-bromo- (8CI)
Ergoset
LS-64540
Lopac0_000171
MolPort-002-512-064
NCGC00024584-04
NCI60_001365
NSC169774
PDSP2_001500
Parlodel
Parlodel Snaptabs
Prestwick0_000121
Prestwick1_000121
Prestwick2_000121
SPBio_002101
UNII-3A64E3G5ZO
bromocriptine
nchembio873-comp18
4insulin4401

Interventional clinical trials:

idNameStatusNCT IDPhase
1Bromocriptine Quick Release (BCQR) as Adjunct Therapy in Type 1 DiabetesRecruitingNCT02544321Phase 2
2Mutations Associated With Parkinson s DiseaseCompletedNCT01547832
3Consortium On Risk for Early-onset Parkinson's Disease (CORE PD)RecruitingNCT00104585
4Hereditary Parkinson s Disease Natural History ProtocolRecruitingNCT02511015
5Parkinson's Families ProjectRecruitingNCT02760108
6Genetic Study in Young Onset Parkinson's DiseaseActive, not recruitingNCT01529970
7Proof of Concept BeatParkNot yet recruitingNCT02647242

Search NIH Clinical Center for Parkinson Disease, Juvenile, Type 2

Genetic Tests for Parkinson Disease, Juvenile, Type 2

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Genetic tests related to Parkinson Disease, Juvenile, Type 2:

id Genetic test Affiliating Genes
1 Parkinson Disease 225

Anatomical Context for Parkinson Disease, Juvenile, Type 2

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Animal Models for Parkinson Disease, Juvenile, Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Parkinson Disease, Juvenile, Type 2:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.4HTRA2, LRRK2, PARK2, PINK1, SNCA, UCHL1
2MP:00053867.3HTRA2, LRRK2, PARK2, PARK7, PINK1, SNCA
3MP:00036316.6DNAJC6, HTRA2, LRRK2, PARK2, PARK7, PINK1

Publications for Parkinson Disease, Juvenile, Type 2

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Variations for Parkinson Disease, Juvenile, Type 2

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UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease, Juvenile, Type 2:

68 (show all 28)
id Symbol AA change Variation ID SNP ID
1PARK2p.Val15MetVAR_019733rs532703934
2PARK2p.Arg33GlnVAR_019734rs147757966
3PARK2p.Pro37LeuVAR_019735rs148990138
4PARK2p.Arg42ProVAR_019736rs368134308
5PARK2p.Ala46ProVAR_019737
6PARK2p.Ala82GluVAR_019738rs55774500
7PARK2p.Ala92ValVAR_019739rs566229879
8PARK2p.Lys161AsnVAR_019741rs137853057
9PARK2p.Lys211AsnVAR_019744rs137853060
10PARK2p.Lys211ArgVAR_019745
11PARK2p.Cys212TyrVAR_019746rs137853058
12PARK2p.Thr240MetVAR_019747rs137853054
13PARK2p.Thr240ArgVAR_019748rs137853054
14PARK2p.Arg256CysVAR_019750rs150562946
15PARK2p.Arg275TrpVAR_019752rs34424986
16PARK2p.Gly284ArgVAR_019754rs751037529
17PARK2p.Cys289GlyVAR_019755rs55961220
18PARK2p.Gly328GluVAR_019756
19PARK2p.Arg334CysVAR_019757rs199657839
20PARK2p.Thr351ProVAR_019759
21PARK2p.Thr415AsnVAR_019763rs778125254
22PARK2p.Gly430AspVAR_019764rs191486604
23PARK2p.Cys431PheVAR_019765rs397514694
24PARK2p.Pro437LeuVAR_019766rs149953814
25PARK2p.Cys441ArgVAR_019767rs778305273
26PARK2p.Val56GluVAR_070078rs137853059
27PARK2p.Arg402CysVAR_070079rs55830907
28PARK2p.Cys418ArgVAR_070080

Clinvar genetic disease variations for Parkinson Disease, Juvenile, Type 2:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1PODXLNM_005397.3(PODXL): c.89_90insGTCGCCCC (p.Gln32Profs)insertionLikely pathogenicrs759639123GRCh37Chr 7, 131241029: 131241030
2PARK2NM_004562.2(PARK2): c.1292G> T (p.Cys431Phe)single nucleotide variantPathogenicrs397514694GRCh37Chr 6, 161771237: 161771237
3PARK2NM_004562.2(PARK2): c.172-?_871+?deldeletionPathogenicGRCh37Chr 6, 162206804: 162683797
4PARK2NM_004562.2(PARK2): c.413-?_534+?deldeletionPathogenicGRCh38Chr 6, 162201131: 162201252
5PARK2NM_004562.2(PARK2): c.719C> G (p.Thr240Arg)single nucleotide variantPathogenicrs137853054GRCh37Chr 6, 162394349: 162394349
6PARK2NM_004562.2(PARK2): c.931C> T (p.Gln311Ter)single nucleotide variantPathogenicrs137853055GRCh37Chr 6, 161990389: 161990389
7PARK2NM_004562.2(PARK2): c.245C> A (p.Ala82Glu)single nucleotide variantPathogenicrs55774500GRCh37Chr 6, 162683724: 162683724
8PARK2NM_004562.2(PARK2): c.8-?_171+?deldeletionPathogenicGRCh37Chr 6, 162864342: 162864505
9PARK2NM_004562.2(PARK2): c.872-?_1083+?deldeletionPathogenicGRCh38Chr 6, 161548854: 161569416
10PARK2NM_004562.2(PARK2): c.1358G> A (p.Trp453Ter)single nucleotide variantPathogenicrs137853056GRCh37Chr 6, 161771171: 161771171
11PARK2NM_004562.2(PARK2): c.483A> T (p.Lys161Asn)single nucleotide variantPathogenicrs137853057GRCh37Chr 6, 162622214: 162622214
12PARK2PARK2, 1-BP DEL, 202AdeletionPathogenic
13PARK2NM_004562.2(PARK2): c.735-?_871+?deldeletionPathogenicGRCh37Chr 6, 162206804: 162206940
14PARK2NM_004562.2(PARK2): c.635G> A (p.Cys212Tyr)single nucleotide variantPathogenicrs137853058GRCh37Chr 6, 162394433: 162394433
15PARK2NM_004562.2(PARK2): c.167T> A (p.Val56Glu)single nucleotide variantPathogenicrs137853059GRCh37Chr 6, 162864346: 162864346
16PARK2PARK2, 1-BP DEL, 255AdeletionPathogenic
17PARK2NM_004562.2(PARK2): c.823C> T (p.Arg275Trp)single nucleotide variantPathogenicrs34424986GRCh37Chr 6, 162206852: 162206852
18PARK2NM_004562.2(PARK2): c.633A> T (p.Lys211Asn)single nucleotide variantPathogenicrs137853060GRCh37Chr 6, 162394435: 162394435
19PARK2PARK2, 1-BP DEL, 1072TdeletionPathogenic
20NM_004562.2(PARK2): c.7+1G> Tsingle nucleotide variantPathogenicrs397518439GRCh37Chr 6, 163148693: 163148693
21PARK2NM_004562.2(PARK2): c.719C> T (p.Thr240Met)single nucleotide variantPathogenicrs137853054GRCh37Chr 6, 162394349: 162394349
22PARK2PARK2, EX5-6 DELdeletionPathogenic

Copy number variations for Parkinson Disease, Juvenile, Type 2 from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12078466161688579163068824DeletionPARK2Early-onset parkinson disease

Expression for genes affiliated with Parkinson Disease, Juvenile, Type 2

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Search GEO for disease gene expression data for Parkinson Disease, Juvenile, Type 2.

Pathways for genes affiliated with Parkinson Disease, Juvenile, Type 2

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GO Terms for genes affiliated with Parkinson Disease, Juvenile, Type 2

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Cellular components related to Parkinson Disease, Juvenile, Type 2 according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1Lewy bodyGO:009741310.6PARK2, PINK1
2mitochondrial respiratory chain complex IGO:000574710.4PARK7, SNCA
3inclusion bodyGO:00162349.9LRRK2, SNCA
4mitochondrial intermembrane spaceGO:00057589.8HTRA2, PARK7, PINK1
5postsynapseGO:00987949.8LRRK2, SNCA
6chromatinGO:00007859.6HTRA2, PARK7, PINK1
7cell bodyGO:00442979.5PACRG, PARK7, PINK1
8perinuclear region of cytoplasmGO:00484719.4PARK2, PARK7, PINK1, SNCA
9mitochondrial outer membraneGO:00057419.4LRRK2, PINK1, VPS13C
10synapseGO:00452028.9DNAJC6, LRRK2, SNCA
11neuron projectionGO:00430058.6LRRK2, PACRG, PARK2, PARK7
12axonGO:00304247.9LRRK2, PARK7, PINK1, SNCA, UCHL1
13mitochondrionGO:00057397.2HTRA2, LRRK2, PACRG, PARK2, PARK7, PINK1
14cytosolGO:00058295.7DNAJC6, HTRA2, LRRK2, PACRG, PARK2, PARK7

Biological processes related to Parkinson Disease, Juvenile, Type 2 according to GeneCards Suite gene sharing:

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1cellular response to toxic substanceGO:009723710.5PARK2, PINK1
2negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathwayGO:190337710.5PARK2, PARK7
3positive regulation of mitochondrial electron transport, NADH to ubiquinoneGO:190295810.5PARK7, PINK1
4negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathwayGO:190338410.5PARK7, PINK1
5regulation of protein targeting to mitochondrionGO:190321410.5PARK2, PINK1
6negative regulation of oxidative stress-induced neuron deathGO:190320410.4PARK7, PINK1
7mitophagyGO:000042210.4PARK2, PINK1
8regulation of neuron apoptotic processGO:004352310.4PARK7, PINK1
9activation of protein kinase B activityGO:003214810.4PARK7, PINK1
10negative regulation of reactive oxygen species metabolic processGO:200037810.4PARK2, PINK1
11negative regulation of JNK cascadeGO:004632910.3PARK2, PINK1
12regulation of protein ubiquitinationGO:003139610.3PARK2, PINK1
13regulation of mitochondrion organizationGO:001082110.2PARK2, PINK1
14positive regulation of mitochondrial fissionGO:009014110.2PARK2, PINK1
15negative regulation of oxidative stress-induced cell deathGO:190320210.2PARK2, PARK7, PINK1
16protein destabilizationGO:003164810.2PARK2, SNCA
17cellular response to unfolded proteinGO:003462010.1PACRG, PARK2
18cellular protein catabolic processGO:004425710.1HTRA2, PARK2
19regulation of mitochondrial membrane potentialGO:005188110.1PARK2, PARK7, PINK1
20dopamine uptake involved in synaptic transmissionGO:005158310.0PARK2, PARK7, SNCA
21cellular response to manganese ionGO:007128710.0LRRK2, PARK2
22negative regulation of hydrogen peroxide-induced cell deathGO:19032069.9LRRK2, PARK7
23regulation of dopamine secretionGO:00140599.9PARK2, SNCA
24negative regulation of gene expressionGO:00106299.9PARK2, PARK7, PINK1
25negative regulation of autophagosome assemblyGO:19029029.9LRRK2, PINK1
26negative regulation of macroautophagyGO:00162429.9LRRK2, PINK1
27protein stabilizationGO:00508219.8PARK2, PARK7, PINK1
28regulation of reactive oxygen species metabolic processGO:20003779.8PARK2, PINK1, SNCA
29adult walking behaviorGO:00076289.8HTRA2, UCHL1
30regulation of canonical Wnt signaling pathwayGO:00608289.8LRRK2, PARK2
31cellular response to dopamineGO:19033519.7LRRK2, PARK2
32positive regulation of peptidyl-serine phosphorylationGO:00331389.7PARK7, PINK1, SNCA
33regulation of neurotransmitter secretionGO:00469289.7PARK2, SNCA
34protein localization to mitochondrionGO:00705859.7LRRK2, PARK2
35regulation of synaptic vesicle transportGO:19028039.7LRRK2, PARK2, PINK1
36regulation of mitophagyGO:19031469.7HTRA2, PARK2, PINK1
37regulation of neuron deathGO:19012149.6LRRK2, SNCA
38excitatory postsynaptic potentialGO:00600799.6LRRK2, SNCA
39negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:19022369.5LRRK2, PARK2, PARK7
40response to oxidative stressGO:00069799.4LRRK2, PARK2, PINK1
41dopamine metabolic processGO:00424179.4PARK2, SNCA
42synaptic transmission, dopaminergicGO:00019639.4PARK2, PARK7, SNCA
43negative regulation of neuron apoptotic processGO:00435249.4PARK2, PARK7, PINK1, SNCA
44regulation of locomotionGO:00400129.3LRRK2, SNCA
45negative regulation of cell deathGO:00605489.3HTRA2, PACRG, PARK2, PARK7
46negative regulation of protein phosphorylationGO:00019338.9LRRK2, PARK2, PARK7, SNCA
47adult locomotory behaviorGO:00083448.8HTRA2, PARK2, PARK7, SNCA
48negative regulation of neuron deathGO:19012158.5HTRA2, LRRK2, PARK2, PARK7, SNCA
49cellular response to oxidative stressGO:00345998.4HTRA2, LRRK2, PARK7, PINK1, SNCA
50mitochondrion organizationGO:00070058.1HTRA2, LRRK2, PARK2, PARK7, PINK1, VPS13C

Molecular functions related to Parkinson Disease, Juvenile, Type 2 according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1ubiquitin-specific protease bindingGO:199038110.2PARK2, PARK7
2phospholipase bindingGO:004327410.1PARK2, SNCA
3alpha-tubulin bindingGO:004301410.1PACRG, SNCA
4beta-tubulin bindingGO:004848710.0PACRG, SNCA
5heat shock protein bindingGO:00310729.8PACRG, PARK2
6tubulin bindingGO:00156319.8LRRK2, PARK2
7Hsp70 protein bindingGO:00305449.7PACRG, PARK2
8ubiquitin protein ligase bindingGO:00316259.2PACRG, PARK2, PINK1, UCHL1
9identical protein bindingGO:00428028.6LRRK2, PARK2, PARK7, SNCA

Sources for Parkinson Disease, Juvenile, Type 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet