MCID: PRK024
MIFTS: 48

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 51 12
Parkinson Disease 2 47 69 26
Autosomal Recessive Juvenile Parkinson Disease 47 69
Early-Onset Parkinson Disease 47 53
Young-Onset Parkinson Disease 47 53
Park2 47 69
Pdj 47 69
Autosomal Recessive Early-Onset Parkinson Disease Type 2 69
Chromosome 6-Linked Autosomal Recessive Parkinsonism 69
Parkinsonism, Early Onset, with Diurnal Fluctuation 47
 
Parkinson Disease Autosomal Recessive, Early Onset 47
Parkinson Disease 2, Autosomal Recessive Juvenile 67
Early-Onset Parkinsonism with Diurnal Fluctuation 69
Autosomal Recessive Juvenile Parkinson Disease 2 11
Parkinsonism Young Adult Onset 69
Parkinsonism, Juvenile 67
Juvenile Parkinsonism 47
Yopd 53
Epdf 69
Jp 47

Characteristics:

Orphanet epidemiological data:

53
early-onset parkinson disease:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Adult; Age of death: elderly

HPO:

63
parkinson disease, juvenile, type 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM51 600116
Disease Ontology11 DOID:0060368
Orphanet53 ORPHA2828
ICD10 via Orphanet30 G20
MedGen36 C1868675
MeSH38 D020734

Summaries for Parkinson Disease, Juvenile, Type 2

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UniProtKB/Swiss-Prot:69 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 6, early onset and parkinson disease, late-onset, and has symptoms including gait disturbance, parkinsonism and dystonia. An important gene associated with Parkinson Disease, Juvenile, Type 2 is PARK2 (Parkin RBR E3 Ubiquitin Protein Ligase), and among its related pathways are Alpha-synuclein signaling and Chks in Checkpoint Regulation. Related mouse phenotypes are cardiovascular system and behavior/neurological.

Disease Ontology:11 A Parkinson's disease that has material basis in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27.

Description from OMIM:51 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 all 39)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson disease 6, early onset31.7LRRK2, PARK2, PARK7, PINK1
2parkinson disease, late-onset28.9LRRK2, PARK2, PARK7, PINK1, SNCA, UCHL1
3pink1 type of young-onset parkinson disease12.3
4parkin type of early-onset parkinson disease12.3
5polyposis, juvenile intestinal11.8
6atypical juvenile parkinsonism11.8
7juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome11.6
8parkinson disease 7, autosomal recessive early-onset11.4
9parkinson disease 20, early-onset11.3
10parkinson disease 15, autosomal recessive11.2
11parkinson disease 23, autosomal recessive, early onset11.2
12waisman syndrome11.1
13epileptic hemiplegia10.0PARK2, SNCA
14hypotrichosis 79.9PARK2, SNCA
15angelman syndrome due to imprinting defect in 15q11-q139.9LRRK2, SNCA
16kufor-rakeb syndrome9.8PARK7, PINK1
17colorectal cancer9.8
18lynch syndrome9.8
19biliary dyskinesia9.8
20rem sleep behavior disorder9.8
21klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism9.8PARK2, PARK7, SNCA
22intellectual disability9.7
23erythematosquamous dermatosis9.7LRRK2, SNCA
24parkinson disease 19.6LRRK2, PARK2, SNCA
25anti-p200 pemphigoid9.6LRRK2, SNCA
26polycystic kidney disease 29.6LRRK2, PARK2, SNCA
27pick disease9.6LRRK2, PARK2, SNCA
28meier-gorlin syndrome 59.3LRRK2, PARK2, PARK7, SNCA
29parkinson disease 109.1LRRK2, PARK2, PARK7, PINK1, SNCA
30epilepsy, progressive myoclonic 1b9.1LRRK2, PARK2, PARK7, PINK1, SNCA
31coenzyme q10 deficiency, primary, 19.1PARK2, PARK7, PINK1, SNCA, UCHL1
32mast syndrome9.1LRRK2, PARK2, PARK7, PINK1, SNCA
33adrenal gland pheochromocytoma9.1LRRK2, PARK2, PARK7, PINK1, SNCA
34angiomyolipoma9.1LRRK2, PARK2, PARK7, PINK1, SNCA
35chronic intestinal vascular insufficiency9.1LRRK2, PARK2, PARK7, PINK1, SNCA
36whiplash9.0HTRA2, LRRK2, PARK2, SNCA
37essential tremor9.0HTRA2, LRRK2, PARK2, SNCA
38phka2-related phosphorylase kinase deficiency8.9LRRK2, PARK2, PARK7, SNCA, UCHL1
39celiac disease 127.3DNAJC6, HTRA2, LRRK2, PARK2, PARK7, PINK1

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

Human phenotypes related to Parkinson Disease, Juvenile, Type 2:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 gait disturbance63 HP:0001288
2 parkinsonism63 HP:0001300
3 dystonia63 HP:0001332
4 tremor63 HP:0001337
5 hyperreflexia63 HP:0001347
6 rigidity63 HP:0002063
7 bradykinesia63 HP:0002067
8 postural instability63 HP:0002172
9 substantia nigra gliosis63 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):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bromocriptineapproved, investigationalPhase 23125614-03-331101
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
2
DopamineapprovedPhase 2375951-61-6, 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
3Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 212767
4Neurotransmitter AgentsPhase 217734
5HormonesPhase 213979
6Hormone AntagonistsPhase 212778
7Antiparkinson AgentsPhase 21527
8Dopamine AgentsPhase 23759
9Dopamine agonistsPhase 2618
10Insulin, Globin Zinc4523
11insulin4524

Interventional clinical trials:

idNameStatusNCT IDPhase
1Bromocriptine Quick Release (BCQR) as Adjunct Therapy in Type 1 DiabetesRecruitingNCT02544321Phase 2
2Consortium On Risk for Early-onset Parkinson's Disease (CORE PD)Unknown statusNCT00104585
3Genetic Study in Young Onset Parkinson's DiseaseUnknown statusNCT01529970
4Mutations Associated With Parkinson s DiseaseCompletedNCT01547832
5Hereditary Parkinson s Disease Natural History ProtocolRecruitingNCT02511015
6Parkinson's Families ProjectRecruitingNCT02760108
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 226

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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.1HTRA2, LRRK2, PARK2, PINK1, SNCA, UCHL1
2MP:00053867.7HTRA2, LRRK2, PARK2, PARK7, PINK1, SNCA
3MP:00036316.5DNAJC6, 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:

69 (show all 26)
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.Cys212TyrVAR_019746rs137853058
11PARK2p.Thr240MetVAR_019747rs137853054
12PARK2p.Thr240ArgVAR_019748rs137853054
13PARK2p.Arg256CysVAR_019750rs150562946
14PARK2p.Arg275TrpVAR_019752rs34424986
15PARK2p.Gly284ArgVAR_019754rs751037529
16PARK2p.Cys289GlyVAR_019755rs55961220
17PARK2p.Gly328GluVAR_019756
18PARK2p.Thr351ProVAR_019759
19PARK2p.Thr415AsnVAR_019763rs778125254
20PARK2p.Gly430AspVAR_019764rs191486604
21PARK2p.Cys431PheVAR_019765rs397514694
22PARK2p.Pro437LeuVAR_019766rs149953814
23PARK2p.Cys441ArgVAR_019767rs778305273
24PARK2p.Val56GluVAR_070078rs137853059
25PARK2p.Arg402CysVAR_070079rs55830907
26PARK2p.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)SNVPathogenicrs397514694GRCh37Chr 6, 161771237: 161771237
3PARK2NM_004562.2(PARK2): c.172-?_871+?deldeletionPathogenicGRCh37Chr 6, 162206804: 162683797
4PARK2NM_004562.2(PARK2): c.413-?_534+?deldeletionPathogenicGRCh37Chr 6, 162622163: 162622284
5PARK2NM_004562.2(PARK2): c.719C> G (p.Thr240Arg)SNVPathogenicrs137853054GRCh37Chr 6, 162394349: 162394349
6PARK2NM_004562.2(PARK2): c.931C> T (p.Gln311Ter)SNVPathogenicrs137853055GRCh37Chr 6, 161990389: 161990389
7PARK2NM_004562.2(PARK2): c.245C> A (p.Ala82Glu)SNVPathogenicrs55774500GRCh37Chr 6, 162683724: 162683724
8PARK2NM_004562.2(PARK2): c.8-?_171+?deldeletionPathogenicGRCh37Chr 6, 162864342: 162864505
9PARK2NM_004562.2(PARK2): c.872-?_1083+?deldeletionPathogenicGRCh37Chr 6, 161969886: 161990448
10PARK2NM_004562.2(PARK2): c.1358G> A (p.Trp453Ter)SNVPathogenicrs137853056GRCh37Chr 6, 161771171: 161771171
11PARK2NM_004562.2(PARK2): c.483A> T (p.Lys161Asn)SNVPathogenicrs137853057GRCh37Chr 6, 162622214: 162622214
12PARK2PARK2, 1-BP DEL, 202AdeletionPathogenicChr na, -1: -1
13PARK2NM_004562.2(PARK2): c.735-?_871+?deldeletionPathogenicGRCh37Chr 6, 162206804: 162206940
14PARK2NM_004562.2(PARK2): c.635G> A (p.Cys212Tyr)SNVPathogenicrs137853058GRCh37Chr 6, 162394433: 162394433
15PARK2NM_004562.2(PARK2): c.167T> A (p.Val56Glu)SNVPathogenicrs137853059GRCh37Chr 6, 162864346: 162864346
16PARK2PARK2, 1-BP DEL, 255AdeletionPathogenicChr na, -1: -1
17PARK2NM_004562.2(PARK2): c.823C> T (p.Arg275Trp)SNVPathogenicrs34424986GRCh37Chr 6, 162206852: 162206852
18PARK2NM_004562.2(PARK2): c.633A> T (p.Lys211Asn)SNVPathogenicrs137853060GRCh37Chr 6, 162394435: 162394435
19PARK2PARK2, 1-BP DEL, 1072TdeletionPathogenicChr na, -1: -1
20PARK2NM_004562.2(PARK2): c.7+1G> TSNVPathogenicrs397518439GRCh37Chr 6, 163148693: 163148693
21PARK2NM_004562.2(PARK2): c.719C> T (p.Thr240Met)SNVPathogenicrs137853054GRCh37Chr 6, 162394349: 162394349
22PARK2PARK2, EX5-6 DELdeletionPathogenicChr na, -1: -1

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:000574710.2PARK7, SNCA
3inclusion bodyGO:001623410.0LRRK2, SNCA
4mitochondrial outer membraneGO:00057419.8LRRK2, PINK1, VPS13C
5postsynapseGO:00987949.7LRRK2, SNCA
6chromatinGO:00007859.6HTRA2, PARK7, PINK1
7mitochondrial intermembrane spaceGO:00057589.4HTRA2, PARK7, PINK1
8membrane raftGO:00451219.3LRRK2, PARK7, PODXL
9perinuclear region of cytoplasmGO:00484719.1PARK2, PARK7, PINK1, SNCA
10cell bodyGO:00442979.0PARK7, PINK1, PODXL
11synapseGO:00452028.9DNAJC6, LRRK2, SNCA
12axonGO:00304248.1LRRK2, PARK7, PINK1, SNCA, UCHL1
13mitochondrionGO:00057397.7HTRA2, LRRK2, PARK2, PARK7, PINK1, SNCA
14cytosolGO:00058296.1DNAJC6, HTRA2, LRRK2, PARK2, PARK7, PINK1

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1cellular response to toxic substanceGO:009723710.5PARK2, PINK1
2negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathwayGO:190337710.4PARK2, PARK7
3regulation of protein targeting to mitochondrionGO:190321410.4PARK2, PINK1
4positive regulation of mitochondrial electron transport, NADH to ubiquinoneGO:190295810.4PARK7, PINK1
5negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathwayGO:190338410.4PARK7, PINK1
6mitophagyGO:000042210.4PARK2, PINK1
7negative regulation of reactive oxygen species metabolic processGO:200037810.3PARK2, PINK1
8regulation of neuron apoptotic processGO:004352310.3PARK7, PINK1
9activation of protein kinase B activityGO:003214810.3PARK7, PINK1
10negative regulation of JNK cascadeGO:004632910.3PARK2, PINK1
11cellular response to manganese ionGO:007128710.3LRRK2, PARK2
12regulation of mitochondrion organizationGO:001082110.2PARK2, PINK1
13positive regulation of mitochondrial fissionGO:009014110.2PARK2, PINK1
14negative regulation of hydrogen peroxide-induced cell deathGO:190320610.2LRRK2, PARK7
15negative regulation of oxidative stress-induced neuron deathGO:190320410.2PARK7, PINK1
16regulation of protein ubiquitinationGO:003139610.2PARK2, PINK1
17negative regulation of autophagosome assemblyGO:190290210.2LRRK2, PINK1
18regulation of canonical Wnt signaling pathwayGO:006082810.2LRRK2, PARK2
19negative regulation of macroautophagyGO:001624210.1LRRK2, PINK1
20negative regulation of oxidative stress-induced cell deathGO:190320210.1PARK2, PARK7, PINK1
21regulation of neurotransmitter secretionGO:004692810.1PARK2, SNCA
22cellular response to dopamineGO:190335110.0LRRK2, PARK2
23protein destabilizationGO:003164810.0PARK2, SNCA
24regulation of synaptic vesicle transportGO:190280310.0LRRK2, PARK2, PINK1
25regulation of mitochondrial membrane potentialGO:005188110.0PARK2, PARK7, PINK1
26protein localization to mitochondrionGO:00705859.9LRRK2, PARK2
27cellular protein catabolic processGO:00442579.8HTRA2, PARK2
28dopamine uptake involved in synaptic transmissionGO:00515839.8PARK2, PARK7, SNCA
29negative regulation of gene expressionGO:00106299.8PARK2, PARK7, PINK1
30protein stabilizationGO:00508219.8PARK2, PARK7, PINK1
31negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:19022369.8LRRK2, PARK2, PARK7
32regulation of neuron deathGO:19012149.7LRRK2, SNCA
33excitatory postsynaptic potentialGO:00600799.7LRRK2, SNCA
34response to oxidative stressGO:00069799.7LRRK2, PARK2, PINK1
35regulation of reactive oxygen species metabolic processGO:20003779.6PARK2, PINK1, SNCA
36regulation of dopamine secretionGO:00140599.6PARK2, SNCA
37negative regulation of cell deathGO:00605489.4HTRA2, PARK2, PARK7
38positive regulation of peptidyl-serine phosphorylationGO:00331389.4PARK7, PINK1, SNCA
39regulation of mitophagyGO:19031469.4HTRA2, PARK2, PINK1
40regulation of locomotionGO:00400129.3LRRK2, SNCA
41dopamine metabolic processGO:00424179.3PARK2, SNCA
42adult walking behaviorGO:00076289.2HTRA2, UCHL1
43negative regulation of neuron apoptotic processGO:00435249.1PARK2, PARK7, PINK1, SNCA
44synaptic transmission, dopaminergicGO:00019639.0PARK2, PARK7, SNCA
45negative regulation of protein phosphorylationGO:00019339.0LRRK2, PARK2, PARK7, SNCA
46adult locomotory behaviorGO:00083448.6HTRA2, PARK2, PARK7, SNCA
47negative regulation of neuron deathGO:19012158.3HTRA2, LRRK2, PARK2, PARK7, SNCA
48cellular response to oxidative stressGO:00345998.2HTRA2, LRRK2, PARK7, PINK1, SNCA
49mitochondrion organizationGO:00070058.1HTRA2, LRRK2, PARK2, PARK7, PINK1, VPS13C

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-specific protease bindingGO:199038110.1PARK2, PARK7
2tubulin bindingGO:001563110.1LRRK2, PARK2
3phospholipase bindingGO:00432749.9PARK2, SNCA
4ubiquitin protein ligase bindingGO:00316259.5PARK2, PINK1, UCHL1
5identical protein bindingGO:00428028.6LRRK2, PARK2, PARK7, SNCA

Sources for Parkinson Disease, Juvenile, Type 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet