MCID: PRK020
MIFTS: 47

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

About this section

Aliases & Descriptions for Parkinson Disease 6, Early Onset:

Name: Parkinson Disease 6, Early Onset 51 12
Parkinson Disease Autosomal Recessive Early-Onset Digenic Pink1/dj1 69 26
Autosomal Recessive Early-Onset Parkinson Disease Type 6 69 26
Early-Onset Parkinson Disease 6 11 13
Parkinson Disease 6 69 26
Parkinson Disease 6, Autosomal Recessive Early-Onset 67
 
Autosomal Recessive Early-Onset Parkinson Disease 6 11
Parkinson Disease 6 Late-Onset Susceptibility to 69
Parkinson Disease 6 Early-Onset 69
Parkinsonism Young Adult Onset 69
Park6 69

Characteristics:

HPO:

63
parkinson disease 6, early onset:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, slow progression

Classifications:



External Ids:

OMIM51 605909
Disease Ontology11 DOID:0060369

Summaries for Parkinson Disease 6, Early Onset

About this section
UniProtKB/Swiss-Prot:69 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 urinary urgency, depression and dementia. An important gene associated with Parkinson Disease 6, Early Onset is PINK1 (PTEN Induced Putative Kinase 1), and among its related pathways are Alpha-synuclein signaling and Chks in Checkpoint Regulation. Related mouse phenotypes are behavior/neurological and cellular.

Disease Ontology:11 A Parkinson's disease that has material basis in mutations in the PINK1 gene on chromosome 1p36.12.

Description from OMIM:51 605909

Related Diseases for Parkinson Disease 6, Early Onset

About this section

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 6, Early Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson disease, late-onset29.7LRRK2, MT-ND5, PARK2, PARK7, PINK1
2parkinson disease, juvenile, type 211.1
3clubfoot10.3MT-ND5, MT-ND6
4enchondroma10.2MT-ND5, MT-ND6
5childhood cerebral astrocytoma10.2MT-ND5, MT-ND6
6noninfectious dermatoses of eyelid10.2MT-ND5, MT-ND6
7mitochondrial membrane protein-associated neurodegeneration10.2MT-ND5, MT-ND6
8lymphoepithelioma-like carcinoma10.1MT-ND5, MT-ND6
9tinea nigra10.1MT-ND5, MT-ND6
10coenzyme q10 deficiency, primary, 19.8PARK2, PARK7, PINK1
11whiplash9.7LRRK2, PARK2
12kufor-rakeb syndrome9.7ATP13A2, PARK7, PINK1
13parkinson disease 19.6LRRK2, PARK2
14klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism9.6ATP13A2, PARK2, PARK7
15essential tremor9.5LRRK2, PARK2
16phka2-related phosphorylase kinase deficiency9.4LRRK2, PARK2, PARK7
17meier-gorlin syndrome 59.4LRRK2, PARK2, PARK7
18polycystic kidney disease 29.3LRRK2, PARK2
19parkinson disease 109.2LRRK2, PARK2, PARK7, PINK1
20celiac disease 129.2LRRK2, PARK2, PARK7, PINK1
21epilepsy, progressive myoclonic 1b9.2LRRK2, PARK2, PARK7, PINK1
22mast syndrome9.2LRRK2, PARK2, PARK7, PINK1
23angiomyolipoma9.1LRRK2, PARK2, PARK7, PINK1
24chronic intestinal vascular insufficiency9.1LRRK2, PARK2, PARK7, PINK1
25adrenal gland pheochromocytoma8.6ATP13A2, LRRK2, PARK2, PARK7, PINK1

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

About this section

Symptoms by clinical synopsis from OMIM:

605909

Clinical features from OMIM:

605909

Human phenotypes related to Parkinson Disease 6, Early Onset:

 63 (show all 11)
id Description HPO Frequency HPO Source Accession
1 urinary urgency63 HP:0000012
2 depression63 HP:0000716
3 dementia63 HP:0000726
4 anxiety63 HP:0000739
5 parkinsonism63 HP:0001300
6 dystonia63 HP:0001332
7 hyperreflexia63 HP:0001347
8 rigidity63 HP:0002063
9 bradykinesia63 HP:0002067
10 postural instability63 HP:0002172
11 resting tremor63 HP:0002322

UMLS symptoms related to Parkinson Disease 6, Early Onset:


muscle rigidity, bradykinesia

Drugs & Therapeutics for Parkinson Disease 6, Early Onset

About this section

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

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pramipexoleapproved, investigationalPhase 4139104632-26-059868, 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 [USAN:INN]
Pramipexole hydrochloride
Pramipexolum
Pramipexolum [Latin]
SAM001247006
SBB070477
SMR000449298
SND-919
SUD919CL2Y
SpecPlus_000820
Spectrum5_001453
Spectrum_001838
U-98528E
pramipexole
2
DopamineapprovedPhase 4375951-61-6, 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
3Protective AgentsPhase 4, Phase 37190
4Neurotransmitter AgentsPhase 4, Phase 3, Early Phase 117734
5Dopamine AgentsPhase 43759
6Antiparkinson AgentsPhase 41527
7AntioxidantsPhase 42928
8Dopamine agonistsPhase 4618
9
Rivastigmineapproved, investigationalPhase 383123441-03-277991
Synonyms:
(S)-3-(1-(Dimethylamino)ethyl)phenyl ethylmethylcarbamate
123441-03-2
3-((1S)-1-(Dimethylamino)ethyl)phenyl N-ethyl-N-methylcarbamate
3-((1S)-1-(Dimethylamino)ethyl)phenyl ethylmethylcarbamate
3-[(1S)-1-(dimethylamino)ethyl]phenyl ethyl(methyl)carbamate
AB1004572
AC1L2U92
BIDD:GT0316
C11766
CHEMBL636
CID77991
Carbamic acid, N-ethyl-N-methyl-, 3-[(1S)-1-(dimethylamino)ethyl]phenyl ester
Carbamic acid, ethylmethyl-, 3-((1S)-1-(dimethylamino)ethyl)phenyl ester
D03822
DB00989
ENA 713 free base
 
Ena 713 Free Base
Ethylmethylcarbamic acid 3-((1S)-1-(dimethylamino)ethyl)phenyl ester
Exelon
Exelon Patch
HMS2089H18
I06-2037
LS-172571
MolPort-003-666-662
NCGC00167531-01
Rivastigmine (JAN/USAN/INN)
Rivastigmine Hydrogen Tartrate
Rivastigmine [USAN:INN]
Rivastigmine hydrogen tartrate
SDZ 212-713
UNII-PKI06M3IW0
[3-[(1S)-1-(dimethylamino)ethyl]phenyl] N-ethyl-N-methylcarbamate
m-((S)-1-(Dimethylamino)ethyl)phenyl ethylmethylcarbamate
rivastigmine
10Cholinesterase InhibitorsPhase 3570
11Cholinergic AgentsPhase 33846
12Neuroprotective AgentsPhase 31672
13Fluorodeoxyglucose F18Phase 2392
14
DoxepinapprovedEarly Phase 1131668-19-5667477, 667468
Synonyms:
(3E)-3-(6H-benzo[c][1]benzoxepin-11-ylidene)-N,N-dimethylpropan-1-amine
(3E)-3-dibenzo[b,e]oxepin-11(6H)-ylidene-N,N-dimethylpropan-1-amine
(3Z)-3-(6H-benzo[c][1]benzoxepin-11-ylidene)-N,N-di(methyl)propan-1-amine
(3Z)-3-(6H-benzo[c][1]benzoxepin-11-ylidene)-N,N-dimethylpropan-1-amine
(3Z)-3-dibenzo[b,e]oxepin-11(6H)-ylidene-N,N-dimethylpropan-1-amine
(Z)-Doxepin
11-(3-(Dimethylamino)propylidene)-6H-dibenz(b,e)oxepine
11-(3-Dimethylamino-propyliden)-6,11-dihydro-dibenz(b,e)oxipin
11-(3-Dimethylaminopropylidene)-6,11-dihydrodibenz(b,e)oxipin
1668-19-5
3-(6H-benzo[c][1]benzoxepin-11-ylidene)-N,N-dimethylpropan-1-amine
3-Dibenz[b,e]oxepin-11(6H)-ylidene-N,N-dimethyl-1-propanamine
3-dibenzo[b,e]oxepin-11(6H)-ylidene-N,N-dimethylpropan-1-amine
3607-18-9
AC1L1FAW
AC1LDI5F
AC1LDI63
AC1NUW4A
AKOS001582771
Adapin
Aponal
BPBio1_000118
BRD-K36616567-003-01-5
BRD-K37694030-003-02-8
BRD-K54462405-003-03-3
BSPBio_000106
BSPBio_001934
C06971
C19H21NO
CAS-1229-29-4
CCRIS 9176
CHEBI:36691
CHEBI:36692
CHEBI:4710
CHEMBL101740
CID10039438
CID3158
CID5462131
CID667468
CID667477
Cidoxepin
Cidoxepin [INN]
Cidoxepina
Cidoxepinum
Curatin
D07875
DB01142
DivK1c_000431
Doxepin
Doxepin (INN)
Doxepin (Z)-isomer
Doxepin Hcl
Doxepin Hydrochloride,
Doxepin [USAN]
 
Doxepin, Hydrochloride
Doxepina
Doxepina [INN-Spanish]
Doxepine
Doxepinum
Doxepinum [INN-Latin]
HSDB 3069
IDI1_000431
KBio1_000431
KBio2_001285
KBio2_003853
KBio2_006421
KBio3_001154
KBioGR_001131
KBioSS_001285
L000699
LS-174582
LS-61638
Lopac-D-4526
Lopac0_000339
MF 10
MOLI001594
MolPort-003-847-024
MolPort-005-933-834
N,N-Dimethyldibenz(b,e)oxepin-delta(11(6H),gamma)-propylamine
NCGC00015344-01
NCGC00015344-02
NCGC00015344-04
NCGC00024623-01
NCGC00024623-02
NCGC00162127-01
NINDS_000431
Oprea1_473232
Prestwick0_000263
Prestwick1_000263
Prestwick2_000263
Prestwick3_000263
Quitaxon
SPBio_000206
SPBio_002325
Sinequan
Sinequan (TN)
Spectrum2_000133
Spectrum3_000407
Spectrum4_000526
Spectrum5_001051
Spectrum_000805
Tocris-0508
Triadapin
UNII-5ASJ6HUZ7D
UNII-F96TTB8728
Zonalon
cis-N-(3-(6H-Dibenz(b,e)oxepin-11-yliden)propyl)-N,N-dimethylamin
cis-doxepin
doxepin
15
HistamineapprovedEarly Phase 1103475614-87-8, 51-45-6774
Synonyms:
.beta.-Imidazolyl-4-ethylamine
1H-Imidazole-4-ethanamine
1H-Imidazole-5-ethanamine
1avn
1qft
2-(1H-Imidazol-4-yl)ethanamine
2-(1H-Imidazol-4-yl)ethylamine
2-(1H-Imidazol-5-yl)ethanamine
2-(1H-Imidazol-5-yl)ethylamine
2-(1H-imidazol-4-yl)ethan-1-amine
2-(1H-imidazol-5-yl)ethanamine
2-(3H-Imidazol-4-yl)-ethylamine
2-(4-Imidazolyl)ethanamine
2-(4-Imidazolyl)ethylamine
2-Imidazol-4-yl-Ethylamine
2-Imidazol-4-ylethylamine
2-[4-Imidazolyl]ethylamine
4-(2-Aminoethyl)-1H-imidazole
4-(2-Aminoethyl)imidazole
4-Imidazoleethylamine
5-Imidazoleethylamine
51-45-6
53290_FLUKA
64422-25-9
924364-91-0
AC-13185
AC1L19ZT
AC1Q54BV
AC1Q54BW
AKOS000274386
ALBB-005968
BCBcMAP01_000250
BSPBio_001117
BSPBio_002124
Bio1_000487
Bio1_000976
Bio1_001465
Bio2_000389
Bio2_000869
C00388
CCRIS 6535
CHEBI:18295
CHEMBL90
CID774
D08040
DivK1c_000308
EINECS 200-100-6
Eramin
Ergamine
Ergotidine
F411C768-A159-4FC0-A195-291A08BB03AA
Free histamine
H7125_SIGMA
HMS1362G19
HMS1792G19
HMS1990G19
HSDB 3338
HSM
Histamine
Histamine (DCF)
Histamine Base
Histamine [USAN]
Histamine, Free Base
Histaminum
 
Histaminum (TN)
IDI1_000308
IDI1_002144
Imidazole-4-ethylamine
Istamina
Istamina [Italian]
KBio1_000308
KBio2_000457
KBio2_001325
KBio2_003025
KBio2_003893
KBio2_005593
KBio2_006461
KBio3_000853
KBio3_000854
KBio3_001344
KBioGR_000457
KBioGR_001580
KBioSS_000457
KBioSS_001325
L-Histamin base
L-Histamine
L-histamine
L000292
LS-75835
Lopac-H-7250
Lopac0_000595
MLS000069447
MolPort-001-785-597
MolPort-002-042-264
NCGC00015513-01
NCGC00015513-08
NCGC00093371-02
NCGC00093371-03
NCGC00093371-04
NCGC00093371-05
NINDS_000308
NSC 33792
NSC33792
SDCCGMLS-0066601.P001
SMP1_000151
SMR000059091
SPBio_000729
ST073926
STK346752
STOCK5S-55669
Spectrum2_000665
Spectrum3_000452
Spectrum4_000960
Spectrum5_000796
Spectrum_000845
Theramine
UNII-820484N8I3
WLN: T5M CNJ D2Z
ZERO/004089
[3H]histamine
b-Imidazolyl-4-ethylamine
beta-Aminoethylglyoxaline
beta-Aminoethylimidazole
beta-Aminothethylglyoxaline
beta-Imidazolyl-4-ethylamine
beta-aminothethylglyoxaline
bmse000744
histamine
nchembio.87-comp54
nchembio714-comp1
16
ZopicloneapprovedEarly Phase 12643200-80-25735
Synonyms:
(+-)-Zopiclone
(+-)-zopiclone
(±)-zopiclone
1-Piperazinecarboxylic acid, 4-methyl-, 6-(5-chloro-2-pyridinyl)-6,7-dihydro-7-oxo-5H-pyrrolo(3,4-b)pyrazin-5-yl ester
1-Piperazinecarboxylic acid, 4-methyl-, 6-(5-chloro-2-pyridinyl)-6,7-dihydro-7-oxo-5H-pyrrolo[3,4-b]pyrazin-5-yl ester
138680-07-6
27267 R.P
27267 R.P.
4-Methyl-1-piperazinecarboxylic acid 6-(5-chloro-2-pyridinyl)-6,7-dihydro-7-oxo-5H-pyrrolo[3,4-b]pyrazin-5-yl ester
4-Methyl-1-piperazinecarboxylic acid ester with 6-(5-chloro-2-pyridyl)-6,7-dihydro-7-hydroxy-5H-pyrrolo(3,4-b)pyrazin-5-one
43200-80-2
6-(5-Chloro-2-pyridinyl)-7-oxo-6,7-dihydro-5H-pyrrolo[3,4-b]pyrazin-5-yl 4-methyl-1-piperazinecarboxylate
6-(5-chloro-2-pyridyl)-6,7-dihydro- 7-oxo-5H-pyrrolo(3,4-b)pyrazin-5-yl 4-methyl-1- piperazinecarboxylate
6-(5-chloropyrid-2-yl)-5-(4-methylpiperazin-1-yl)carbonyloxy-7-oxo-6,7-dihydro-5H-pyrrolo[3,4-b]pyrazine
6-(5-chloropyridin-2-yl)-7-oxo-6,7-dihydro-5H-pyrrolo[3,4-b]pyrazin-5-yl 4-methylpiperazine-1-carboxylate
AC1L1L0T
AbZ brand of zopiclone
Aliud brand of zopiclone
Alpharma brand of zopiclone
Amoban
Amoban (TN)
Amovane
Aventis Pharma brand of zopiclone
Aventis brand of zopiclone
Azupharma brand of zopiclone
BPBio1_001146
BRD-A34309505-001-08-5
BRN 0768704
Bio-0528
Biomol-NT_000284
C17H17ClN6O3
C515050
CHEBI:32315
CHEBI:324263
CHEMBL135400
CID5735
Ciclum brand of zopiclone
Clonmel brand of zopiclone
D01372
DB01198
Dolorgeit brand of zopiclone
EINECS 256-138-9
EU-0101270
Gerard brand of zopiclone
Hexal brand of zopiclone
Hormosan brand of zopiclone
Imovance
Imovane
Italfarmaco brand of zopiclone
LS-110937
Limovan
Lopac0_001270
MLS000028547
MLS000083579
MLS001201837
MLS001304058
Merck dura brand of zopiclone
MolPort-002-507-850
NCGC00024993-03
NCGC00024993-04
Norton brand of zopiclone
 
Novo-zopiclone
Nu-Pharm brand of zopiclone
Nu-Zopiclone
Optidorm
Opus brand of zopiclone
Pinewood brand of zopiclone
RP 27 267
RP 27267
RP-27267
Ran-zopiclone
Ratiopharm brand of zopiclone
Rhodiapharm brand of zopiclone
Rhone-Poulenc Rorer brand of zopiclone
Rhovane
S1446_Selleck
SMR000048685
STK599439
Siaten
Sopivan
Stadapharm brand of zopiclone
TAD brand of zopiclone
Temmler brand of zopiclone
Teva brand of zopiclone
UNII-03A5ORL08Q
Ximovan
Z 4900
Z4900_SIGMA
Zileze
Zimoclone
Zimovane
Zopi-Puren
Zopicalm
Zopicalma
Zopiclon AL
Zopiclon AZU
Zopiclon AbZ
Zopiclon Stada
Zopiclon TAD
Zopiclon beta
Zopiclon-TEVA
Zopiclon-neuraxpharm
Zopiclon-ratiopharm
Zopiclona
Zopiclona [INN-Spanish]
Zopiclone
Zopiclone (JAN/INN)
Zopiclone (TN)
Zopiclone [BAN:INN:JAN]
Zopiclone [Ban:Inn:Jan]
Zopiclone, Imovane, Zimovane, Lunesta
Zopiclonum
Zopiclonum [INN-Latin]
Zopitan
Zorclone
[6-(5-chloropyridin-2-yl)-5-oxo-7H-pyrrolo[3,4-b]pyrazin-7-yl] 4-methylpiperazine-1-carboxylate
betapharm brand of zopiclone
ct-Arzneimittel brand of zopiclone
nchembio747-comp16
neuraxpharm brand of zopiclone
ratio-Zopiclone
zopiclodura
zopiclon von ct
zopiclone
17
Histamine PhosphateapprovedEarly Phase 1103351-74-165513
Synonyms:
1H-Imidazole-4-ethanamine, phosphate (1:2)
2-Imidazol-4-ylethylamine orthophosphoric acid (1:2)
4-(2-Aminoethyl)imidazole bis(dihydrogen phosphate)
4-(2-Aminoethyl)imidazole di-acid phosphate
4-2(2-Aminoethyl)Imidazole-Di-Acid Phosphate
51-74-1
53623-99-7
74-56-6
AC1L23E4
CID65513
D04445
DB00667
 
EINECS 200-118-4
H0147
Histamine acid phosphate
Histamine biphosphate
Histamine dihydrogen phosphate
Histamine diphosphate
Histamine phosphate (1:2)
Histamine phosphate (TN)
Histamine phosphate (USP)
Histamine phosphate [USP]
Histamine positive
Histaminum
LS-78569
UNII-QWB37T4WZZ
18Hypnotics and SedativesEarly Phase 12485
19Psychotropic DrugsEarly Phase 16279
20Central Nervous System DepressantsEarly Phase 112806
21Antidepressive AgentsEarly Phase 12666
22Antidepressive Agents, TricyclicEarly Phase 1293
23Histamine AntagonistsEarly Phase 1946

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Study of (Mirapex) Pramipexole for the Early Treatment of Parkinsons Disease (PD)CompletedNCT00321854Phase 4
2Efficacy of RIVAstigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear PalsyRecruitingNCT02839642Phase 3
3Development of a Novel 18F-DTBZ PET Imaging as a Biomarker to Monitor Neurodegeneration of PARK6 and PARK8 ParkinsonismCompletedNCT01759888Phase 2
4A Trial of MitoQ for the Treatment of People With Parkinson's DiseaseCompletedNCT00329056Phase 2
5Imaging and Genetic Biomarkers of Parkinson Disease (PD) Onset and Progression in High-risk FamiliesCompletedNCT00273351Phase 2
6Parkin Mutations and Their Functional ConsequencesUnknown statusNCT00136721Phase 1
7Functional Characterization of Parkin + PatientsTerminatedNCT00142311Phase 1
8Genetic Study in Young Onset Parkinson's DiseaseUnknown statusNCT01529970
9Treatments for Insomnia in Patients With Parkinson's DiseaseCompletedNCT01489982Early Phase 1
10Hereditary Parkinson s Disease Natural History ProtocolRecruitingNCT02511015
11Early 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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Genetic tests related to Parkinson Disease 6, Early Onset:

id Genetic test Affiliating Genes
1 Parkinson Disease 6, Autosomal Recessive Early-Onset26
2 Parkinson Disease 626
3 Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/dj126

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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.0ATP13A2, LRRK2, PARK2, PARK7, PINK1, PTEN
2MP:00053847.6ATP13A2, LRRK2, MT-ND6, PARK2, PARK7, PINK1
3MP:00036316.8ATP13A2, 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:

69 (show all 22)
id Symbol AA change Variation ID SNP ID
1PINK1p.Gly309AspVAR_018994rs74315355
2PINK1p.Cys92PheVAR_046568
3PINK1p.Ala168ProVAR_046575rs768091663
4PINK1p.Pro196LeuVAR_046577rs138302371
5PINK1p.Ala217AspVAR_046578rs74315360
6PINK1p.Glu240LysVAR_046581rs573931674
7PINK1p.Leu268ValVAR_046584rs372280083
8PINK1p.His271GlnVAR_046585rs28940284
9PINK1p.Arg279HisVAR_046587rs74315358
10PINK1p.Thr313MetVAR_046589rs74315359
11PINK1p.Leu347ProVAR_046593rs28940285
12PINK1p.Cys388ArgVAR_046596
13PINK1p.Glu417GlyVAR_046599
14PINK1p.Arg464HisVAR_046605rs764328076
15PINK1p.Leu489ProVAR_046607
16PINK1p.Cys125GlyVAR_062773
17PINK1p.Ala280ThrVAR_062774rs772510148
18PINK1p.Leu369ProVAR_062775
19PINK1p.Gly386AlaVAR_062776
20PINK1p.Arg407GlnVAR_062778rs556540177
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
2PINK1NM_032409.2(PINK1): c.926G> A (p.Gly309Asp)SNVPathogenicrs74315355GRCh37Chr 1, 20971132: 20971132
3PINK1NM_032409.2(PINK1): c.813C> A (p.His271Gln)SNVPathogenicrs28940284GRCh37Chr 1, 20971019: 20971019
4PINK1NM_032409.2(PINK1): c.1311G> A (p.Trp437Ter)SNVPathogenicrs74315356GRCh37Chr 1, 20975547: 20975547
5PINK1NM_032409.2(PINK1): c.736C> T (p.Arg246Ter)SNVPathogenicrs74315357GRCh37Chr 1, 20966445: 20966445
6PINK1NM_032409.2(PINK1): c.1040T> C (p.Leu347Pro)SNVPathogenicrs28940285GRCh37Chr 1, 20972133: 20972133
7PINK1NM_032409.2(PINK1): c.1570_1573dupTTAG (p.Asp525Valfs)duplicationPathogenicrs730880302GRCh37Chr 1, 20977008: 20977011
8PINK1PINK1, 3-BP INS, 1602CAAinsertionPathogenicChr na, -1: -1
9PINK1NM_032409.2(PINK1): c.836G> A (p.Arg279His)SNVPathogenicrs74315358GRCh37Chr 1, 20971042: 20971042
10PINK1NM_005216.4(DDOST): c.*807_*5409deldeletionPathogenicGRCh38Chr 1, 20646970: 20651572
11PINK1NM_032409.2(PINK1): c.938C> T (p.Thr313Met)SNVPathogenicrs74315359GRCh37Chr 1, 20971144: 20971144
12PINK1NM_032409.2(PINK1): c.650C> A (p.Ala217Asp)SNVPathogenicrs74315360GRCh37Chr 1, 20964597: 20964597
13PINK1NM_032409.2(PINK1): c.1366C> T (p.Gln456Ter)SNVPathogenicrs45539432GRCh37Chr 1, 20975602: 20975602
14MT-ND6m.14319T> CSNVrisk factorrs199476110GRCh37Chr MT, 14319: 14319
15MT-ND5m.12397A> GSNVrisk 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.

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
1Lewy bodyGO:009741310.4PARK2, PINK1
2mitochondrial respiratory chain complex IGO:000574710.2MT-ND5, PARK7
3presynapseGO:00987939.8PARK2, PARK7
4axonGO:00304248.8LRRK2, PARK7, PINK1
5mitochondrial inner membraneGO:00057438.7LRRK2, MT-ND5, MT-ND6, PINK1
6mitochondrionGO:00057397.7LRRK2, PARK2, PARK7, PINK1, PTEN
7neuron projectionGO:00430057.1ATP13A2, LRRK2, MT-ND5, PARK2, PARK7, PTEN

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1cellular response to toxic substanceGO:009723710.3PARK2, PINK1
2positive regulation of mitochondrial electron transport, NADH to ubiquinoneGO:190295810.3PARK7, PINK1
3negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathwayGO:190338410.3PARK7, PINK1
4regulation of protein targeting to mitochondrionGO:190321410.3PARK2, PINK1
5mitochondrial respiratory chain complex I assemblyGO:003298110.2MT-ND5, MT-ND6
6mitophagyGO:000042210.2PARK2, PINK1
7regulation of neuron apoptotic processGO:004352310.2PARK7, PINK1
8activation of protein kinase B activityGO:003214810.2PARK7, PINK1
9negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathwayGO:190337710.2PARK2, PARK7
10negative regulation of reactive oxygen species metabolic processGO:200037810.2PARK2, PINK1
11dopamine uptake involved in synaptic transmissionGO:005158310.2PARK2, PARK7
12negative regulation of JNK cascadeGO:004632910.1PARK2, PINK1
13negative regulation of oxidative stress-induced neuron deathGO:190320410.1PARK7, PINK1
14mitochondrial electron transport, NADH to ubiquinoneGO:000612010.1MT-ND5, MT-ND6
15regulation of reactive oxygen species metabolic processGO:200037710.1PARK2, PINK1
16positive regulation of mitochondrial fissionGO:009014110.0PARK2, PINK1
17zinc ion homeostasisGO:005506910.0ATP13A2, PARK2
18negative regulation of cell deathGO:006054810.0PARK2, PARK7
19regulation of protein ubiquitinationGO:00313969.9PARK2, PINK1
20negative regulation of autophagosome assemblyGO:19029029.9LRRK2, PINK1
21negative regulation of macroautophagyGO:00162429.9LRRK2, PINK1
22negative regulation of oxidative stress-induced cell deathGO:19032029.8PARK2, PARK7, PINK1
23negative regulation of hydrogen peroxide-induced cell deathGO:19032069.8LRRK2, PARK7
24positive regulation of protein ubiquitinationGO:00313989.7LRRK2, PINK1
25regulation of canonical Wnt signaling pathwayGO:00608289.7LRRK2, PARK2
26adult locomotory behaviorGO:00083449.7PARK2, PARK7
27regulation of mitochondrial membrane potentialGO:00518819.7PARK2, PARK7, PINK1
28negative regulation of excitatory postsynaptic potentialGO:00903949.7LRRK2, PTEN
29response to hydrogen peroxideGO:00425429.7MT-ND5, MT-ND6, PARK7
30positive regulation of proteasomal ubiquitin-dependent protein catabolic processGO:00324369.6LRRK2, PARK2
31regulation of synaptic vesicle transportGO:19028039.5LRRK2, PARK2, PINK1
32positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.5PARK7, PINK1, PTEN
33cellular response to dopamineGO:19033519.5LRRK2, PARK2
34synaptic transmission, dopaminergicGO:00019639.5PARK2, PARK7
35negative regulation of gene expressionGO:00106299.4PARK2, PARK7, PINK1
36regulation of mitochondrion organizationGO:00108219.4ATP13A2, PARK2, PINK1
37negative regulation of protein bindingGO:00320919.4LRRK2, PARK7
38regulation of mitophagyGO:19031469.4ATP13A2, PARK2, PINK1
39protein localization to mitochondrionGO:00705859.3LRRK2, PARK2
40regulation of autophagyGO:00105069.3LRRK2, PARK2
41response to oxidative stressGO:00069799.2LRRK2, PARK2, PINK1
42cellular response to manganese ionGO:00712879.2ATP13A2, LRRK2, PARK2
43negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:19022369.2LRRK2, PARK2, PARK7
44negative regulation of neuron apoptotic processGO:00435249.2PARK2, PARK7, PINK1
45protein stabilizationGO:00508218.9PARK2, PARK7, PINK1, PTEN
46mitochondrion organizationGO:00070058.7LRRK2, PARK2, PARK7, PINK1
47cellular response to oxidative stressGO:00345998.5ATP13A2, LRRK2, PARK7, PINK1
48negative regulation of neuron deathGO:19012158.5ATP13A2, LRRK2, PARK2, PARK7
49negative regulation of protein phosphorylationGO:00019338.5LRRK2, PARK2, PARK7, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:000813710.3MT-ND5, MT-ND6
2cupric ion bindingGO:19031359.9ATP13A2, PARK7
3ubiquitin-specific protease bindingGO:19903819.9PARK2, PARK7
4tubulin bindingGO:00156319.6LRRK2, PARK2
5enzyme bindingGO:00198999.0PARK2, PARK7, PTEN
6identical protein bindingGO:00428028.2LRRK2, PARK2, PARK7, PTEN

Sources for Parkinson Disease 6, Early Onset

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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