PARK2
MCID: PRK024
MIFTS: 48

Parkinson Disease, Juvenile, Type 2 (PARK2) 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 52 12
Parkinson Disease 2 48 70 27
Autosomal Recessive Juvenile Parkinson Disease 48 70
Early-Onset Parkinson Disease 48 54
Young-Onset Parkinson Disease 48 54
Park2 48 70
Pdj 48 70
Autosomal Recessive Early-Onset Parkinson Disease Type 2 70
Chromosome 6-Linked Autosomal Recessive Parkinsonism 70
Parkinsonism, Early Onset, with Diurnal Fluctuation 48
 
Parkinson Disease Autosomal Recessive, Early Onset 48
Parkinson Disease 2, Autosomal Recessive Juvenile 68
Early-Onset Parkinsonism with Diurnal Fluctuation 70
Autosomal Recessive Juvenile Parkinson Disease 2 11
Parkinsonism Young Adult Onset 70
Parkinsonism, Juvenile 68
Juvenile Parkinsonism 48
Yopd 54
Epdf 70
Jp 48

Characteristics:

Orphanet epidemiological data:

54
early-onset parkinson disease:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Adult; Age of death: elderly

HPO:

64
parkinson disease, juvenile, type 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: adult onset

Classifications:



External Ids:

OMIM52 600116
Disease Ontology11 DOID:0060368
Orphanet54 ORPHA2828
ICD10 via Orphanet31 G20
MedGen37 C1868675
MeSH39 D020734

Summaries for Parkinson Disease, Juvenile, Type 2

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UniProtKB/Swiss-Prot:70 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 pink1 type of young-onset parkinson disease, and has symptoms including muscle rigidity, muscle rigidity and tremor. An important gene associated with Parkinson Disease, Juvenile, Type 2 is PRKN (Parkin RBR E3 Ubiquitin Protein Ligase), and among its related pathways are Pink/Parkin Mediated Mitophagy and Alpha-synuclein signaling. Related mouse phenotypes are behavior/neurological and homeostasis/metabolism.

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:52 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 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, Juvenile, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson disease 6, early onset32.2LRRK2, PARK7, PINK1
2pink1 type of young-onset parkinson disease12.3
3early-onset parkinson disease12.3
4parkin type of early-onset parkinson disease12.3
5polyposis, juvenile intestinal11.8
6atypical juvenile parkinsonism11.8
7parkinson disease 20, early-onset11.7
8juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome11.6
9parkinson disease 7, autosomal recessive early-onset11.3
10parkinson disease 15, autosomal recessive11.2
11parkinson disease 23, autosomal recessive, early onset11.2
12waisman syndrome11.0
13parkinson disease, late-onset10.9
14autosomal recessive early-onset parksinson disease 2310.9
15rubinstein-taybi syndrome 210.1PINK1, PRKN
16kufor-rakeb syndrome10.0PARK7, PINK1
17cerebral atrophy9.9SNCA, UCHL1
18transient neonatal myasthenia gravis9.9LRRK2, SNCA
19riedel's fibrosing thyroiditis9.8LRRK2, SNCA
20meier-gorlin syndrome 59.8LRRK2, PARK7, SNCA
21lower gum cancer9.8LRRK2, SNCA
22colorectal cancer9.8
23nephrotic syndrome9.8
24lynch syndrome9.8
25biliary dyskinesia9.8
26rem sleep behavior disorder9.8
27intellectual disability9.7
28multiple system atrophy9.7PARK7, PINK1, SNCA, UCHL1
29lethal congenital contracture syndrome 89.7LRRK2, PARK7, PINK1, SNCA
30epithelioid type angiomyolipoma9.7LRRK2, PINK1, SNCA
31cardiomyopathy, dilated, 1u9.7LRRK2, PRKN, SNCA
32thrombosis9.7LRRK2, PARK7, PINK1, SNCA
33benign partial epilepsy with secondarily generalized seizures in infancy9.7HTRA2, LRRK2, SNCA
34substance-induced psychosis9.7LRRK2, PARK7, PINK1, SNCA
35thyrotropin-releasing hormone deficiency9.7HTRA2, LRRK2, SNCA
36plekhm1-related autosomal recessive osteopetrosis9.6LRRK2, PARK7, SNCA, UCHL1
37spink1-related hereditary pancreatitis9.6LRRK2, PARK7, PRKN, SNCA
38coenzyme q10 deficiency, primary, 19.6LRRK2, PARK7, PRKN, SNCA
39ceroid lipofuscinosis, neuronal, 19.5LRRK2, PARK7, PINK1, PRKN, SNCA
40klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism9.5LRRK2, PARK7, PINK1, PRKN, SNCA
41hypoproteinemia, hypercatabolic9.5LRRK2, PARK7, PINK1, PRKN, SNCA
42cavernous hemangioma9.5LRRK2, PARK7, PINK1, PRKN, SNCA
43gallbladder adenoma9.5LRRK2, PARK7, PINK1, PRKN, SNCA
44hemochromatosis, type 2a9.2LRRK2, PARK7, PINK1, PRKN, SNCA, UCHL1
45trichothiodystrophy 3, photosensitive8.7DNAJC6, HTRA2, LRRK2, PARK7, PINK1, PODXL

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



Diseases related to parkinson disease, juvenile, type 2

Symptoms & Phenotypes 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:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 gait disturbance64 HP:0001288
2 parkinsonism64 HP:0001300
3 dystonia64 HP:0001332
4 tremor64 HP:0001337
5 hyperreflexia64 HP:0001347
6 rigidity64 HP:0002063
7 bradykinesia64 HP:0002067
8 postural instability64 HP:0002172
9 substantia nigra gliosis64 HP:0011960

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


muscle rigidity, tremor, bradykinesia

MGI Mouse Phenotypes related to Parkinson Disease, Juvenile, Type 2 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.8HTRA2, LRRK2, PARK7, PINK1, PRKN, SNCA
2MP:00053767.3HTRA2, LRRK2, PARK7, PINK1, PRKN, SNCA
3MP:00036316.6DNAJC6, HTRA2, LRRK2, PARK7, PINK1, PRKN

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 2383651-61-6, 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 213168
4Neurotransmitter AgentsPhase 218340
5HormonesPhase 214415
6Hormone AntagonistsPhase 213180
7Antiparkinson AgentsPhase 21574
8Dopamine AgentsPhase 23836
9Dopamine agonistsPhase 2632
10Insulin, Globin Zinc4645
11insulin4646

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
7To Evaluate the Safety and Efficacy of Remsima™ in Patients With Crohn's Disease (CD) or Ulcerative Colitis (UC)RecruitingNCT02326155
8Proof 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 227

Anatomical Context for Parkinson Disease, Juvenile, Type 2

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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:

70 (show all 26)
id Symbol AA change Variation ID SNP ID
1PRKNp.Val15MetVAR_019733rs532703934
2PRKNp.Arg33GlnVAR_019734rs147757966
3PRKNp.Pro37LeuVAR_019735rs148990138
4PRKNp.Arg42ProVAR_019736rs368134308
5PRKNp.Ala46ProVAR_019737
6PRKNp.Ala82GluVAR_019738rs55774500
7PRKNp.Ala92ValVAR_019739rs566229879
8PRKNp.Lys161AsnVAR_019741rs137853057
9PRKNp.Lys211AsnVAR_019744rs137853060
10PRKNp.Cys212TyrVAR_019746rs137853058
11PRKNp.Thr240MetVAR_019747rs137853054
12PRKNp.Thr240ArgVAR_019748rs137853054
13PRKNp.Arg256CysVAR_019750rs150562946
14PRKNp.Arg275TrpVAR_019752rs34424986
15PRKNp.Gly284ArgVAR_019754rs751037529
16PRKNp.Cys289GlyVAR_019755rs55961220
17PRKNp.Gly328GluVAR_019756
18PRKNp.Thr351ProVAR_019759
19PRKNp.Thr415AsnVAR_019763rs778125254
20PRKNp.Gly430AspVAR_019764rs191486604
21PRKNp.Cys431PheVAR_019765rs397514694
22PRKNp.Pro437LeuVAR_019766rs149953814
23PRKNp.Cys441ArgVAR_019767rs778305273
24PRKNp.Val56GluVAR_070078rs137853059
25PRKNp.Arg402CysVAR_070079rs55830907
26PRKNp.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
2PRKNNM_ 004562.2(PRKN): c.850G> C (p.Gly284Arg)SNVPathogenicrs751037529GRCh38Chr 6, 161785793: 161785793
3PRKNNC_ 000006.12: g.(?_ 162201131)_ (162443473_ ?)deldeletionPathogenicGRCh37Chr 6, 162622163: 162864505
4PRKNNC_ 000006.12: g.(?_ 162054091)_ (162054174_ ?)deldeletionPathogenicGRCh37Chr 6, 162475123: 162475206
5PRKNNM_ 004562.2(PRKN): c.1292G> T (p.Cys431Phe)SNVPathogenicrs397514694GRCh37Chr 6, 161771237: 161771237
6PRKNNM_ 004562.2(PRKN): c.172-?_ 871+?deldeletionPathogenicGRCh37Chr 6, 162206804: 162683797
7PRKNNM_ 004562.2(PRKN): c.413-?_ 534+?deldeletionPathogenicGRCh37Chr 6, 162622163: 162622284
8PRKNNM_ 004562.2(PRKN): c.719C> G (p.Thr240Arg)SNVPathogenicrs137853054GRCh37Chr 6, 162394349: 162394349
9PRKNNM_ 004562.2(PRKN): c.931C> T (p.Gln311Ter)SNVPathogenicrs137853055GRCh37Chr 6, 161990389: 161990389
10PRKNNM_ 004562.2(PRKN): c.8-?_ 171+?deldeletionPathogenicGRCh37Chr 6, 162864342: 162864505
11PRKNNM_ 004562.2(PRKN): c.872-?_ 1083+?deldeletionPathogenicGRCh38Chr 6, 161548854: 161569416
12PRKNNM_ 004562.2(PRKN): c.1358G> A (p.Trp453Ter)SNVPathogenicrs137853056GRCh37Chr 6, 161771171: 161771171
13PRKNNM_ 004562.2(PRKN): c.483A> T (p.Lys161Asn)SNVPathogenicrs137853057GRCh37Chr 6, 162622214: 162622214
14PRKNPARK2, 1-BP DEL, 202AdeletionPathogenic
15PRKNNM_ 004562.2(PRKN): c.735-?_ 871+?deldeletionPathogenicGRCh37Chr 6, 162206804: 162206940
16PRKNNM_ 004562.2(PRKN): c.635G> A (p.Cys212Tyr)SNVPathogenicrs137853058GRCh37Chr 6, 162394433: 162394433
17PRKNNM_ 004562.2(PRKN): c.167T> A (p.Val56Glu)SNVPathogenicrs137853059GRCh37Chr 6, 162864346: 162864346
18PRKNPARK2, 1-BP DEL, 255AdeletionPathogenic
19PRKNNM_ 004562.2(PRKN): c.633A> T (p.Lys211Asn)SNVPathogenicrs137853060GRCh37Chr 6, 162394435: 162394435
20PRKNPARK2, 1-BP DEL, 1072TdeletionPathogenic
21PRKNNM_ 004562.2(PRKN): c.7+1G> TSNVPathogenicrs397518439GRCh37Chr 6, 163148693: 163148693
22PRKNPARK2, EX5-6 DELdeletionPathogenic

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:009741310.6PINK1, PRKN
2mitochondrial respiratory chain complex IGO:000574710.4PARK7, SNCA
3cell bodyGO:004429710.2PARK7, PINK1, PODXL
4inclusion bodyGO:001623410.1LRRK2, SNCA
5membrane raftGO:00451219.9LRRK2, PARK7, PODXL
6mitochondrial outer membraneGO:00057419.8LRRK2, PINK1, VPS13C
7chromatinGO:00007859.8HTRA2, PARK7, PINK1
8mitochondrial intermembrane spaceGO:00057589.7HTRA2, PARK7, PINK1
9perinuclear region of cytoplasmGO:00484719.4PARK7, PINK1, PRKN, SNCA
10postsynapseGO:00987949.3LRRK2, SNCA
11axonGO:00304248.9LRRK2, PARK7, PINK1, SNCA, UCHL1
12endoplasmic reticulumGO:00057838.6HTRA2, LRRK2, PARK7, PRKN, UCHL1
13mitochondrionGO:00057397.7HTRA2, LRRK2, PARK7, PINK1, PRKN, SNCA
14cytosolGO:00058297.0DNAJC6, HTRA2, LRRK2, PARK7, PINK1, PRKN

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

(show top 50)    (show all 53)
idNameGO IDScoreTop Affiliating Genes
1cellular response to toxic substanceGO:009723710.5PINK1, PRKN
2mitochondrion to lysosome transportGO:009907410.5PINK1, PRKN
3mitophagyGO:000042210.5PINK1, PRKN
4mitophagy in response to mitochondrial depolarizationGO:009877910.5PINK1, PRKN
5negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathwayGO:190337710.5PARK7, PRKN
6positive regulation of mitophagyGO:190359910.5PARK7, PRKN
7negative regulation of JNK cascadeGO:004632910.5PINK1, PRKN
8activation of protein kinase B activityGO:003214810.5PARK7, PINK1
9negative regulation of reactive oxygen species metabolic processGO:200037810.5PINK1, PRKN
10positive regulation of mitochondrial fissionGO:009014110.5PINK1, PRKN
11negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathwayGO:190338410.5PARK7, PINK1
12negative regulation of oxidative stress-induced neuron deathGO:190320410.4PARK7, PINK1
13regulation of cellular response to oxidative stressGO:190040710.4PINK1, PRKN
14positive regulation of mitochondrial electron transport, NADH to ubiquinoneGO:190295810.4PARK7, PINK1
15regulation of mitochondrion organizationGO:001082110.4PINK1, PRKN
16regulation of protein targeting to mitochondrionGO:190321410.4PINK1, PRKN
17regulation of protein ubiquitinationGO:003139610.4PINK1, PRKN
18dopamine metabolic processGO:004241710.4PRKN, SNCA
19regulation of neuron apoptotic processGO:004352310.4PARK7, PINK1
20protein destabilizationGO:003164810.3PRKN, SNCA
21cellular response to dopamineGO:190335110.3LRRK2, PRKN
22cellular response to manganese ionGO:007128710.3LRRK2, PRKN
23regulation of dopamine secretionGO:001405910.3PRKN, SNCA
24regulation of neurotransmitter secretionGO:004692810.2PRKN, SNCA
25protein localization to mitochondrionGO:007058510.2LRRK2, PRKN
26negative regulation of hydrogen peroxide-induced cell deathGO:190320610.2LRRK2, PARK7
27negative regulation of autophagosome assemblyGO:190290210.2LRRK2, PINK1
28regulation of canonical Wnt signaling pathwayGO:006082810.2LRRK2, PRKN
29negative regulation of macroautophagyGO:001624210.2LRRK2, PINK1
30negative regulation of gene expressionGO:001062910.2PARK7, PINK1, PRKN
31negative regulation of oxidative stress-induced cell deathGO:190320210.1PARK7, PINK1, PRKN
32protein stabilizationGO:005082110.1PARK7, PINK1, PRKN
33cellular protein catabolic processGO:004425710.1HTRA2, PRKN
34regulation of mitochondrial membrane potentialGO:005188110.1PARK7, PINK1, PRKN
35dopamine uptake involved in synaptic transmissionGO:005158310.0PARK7, PRKN, SNCA
36regulation of locomotionGO:004001210.0LRRK2, SNCA
37regulation of neuron deathGO:19012149.9LRRK2, SNCA
38negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:19022369.9LRRK2, PARK7, PRKN
39positive regulation of peptidyl-serine phosphorylationGO:00331389.9PARK7, PINK1, SNCA
40regulation of mitophagyGO:19031469.9HTRA2, PINK1
41adult walking behaviorGO:00076289.9HTRA2, UCHL1
42regulation of reactive oxygen species metabolic processGO:20003779.8PINK1, PRKN, SNCA
43regulation of synaptic vesicle transportGO:19028039.7LRRK2, PINK1, PRKN
44negative regulation of cell deathGO:00605489.7HTRA2, PARK7, PRKN
45negative regulation of neuron apoptotic processGO:00435249.6PARK7, PINK1, PRKN, SNCA
46autophagyGO:00069149.6LRRK2, PARK7, PINK1, PRKN
47response to oxidative stressGO:00069799.5LRRK2, PINK1, PRKN
48negative regulation of protein phosphorylationGO:00019339.4LRRK2, PARK7, PRKN, SNCA
49synaptic transmission, dopaminergicGO:00019639.3PARK7, PRKN, SNCA
50adult locomotory behaviorGO:00083449.2HTRA2, PARK7, PRKN, SNCA

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

idNameGO IDScoreTop Affiliating Genes
1Hsp70 protein bindingGO:003054410.3PRKN, SNCA
2cuprous ion bindingGO:190313610.3PARK7, SNCA
3phospholipase bindingGO:004327410.1PRKN, SNCA
4tubulin bindingGO:00156319.8LRRK2, PRKN
5ubiquitin-specific protease bindingGO:19903819.8PARK7, PRKN
6identical protein bindingGO:00428028.4HTRA2, LRRK2, PARK7, PRKN, SNCA

Sources for Parkinson Disease, Juvenile, Type 2

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet