PARK6
MCID: PRK092
MIFTS: 46

Parkinson Disease 6, Autosomal Recessive Early-Onset (PARK6)

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

Aliases & Classifications for Parkinson Disease 6, Autosomal Recessive Early-Onset

MalaCards integrated aliases for Parkinson Disease 6, Autosomal Recessive Early-Onset:

Name: Parkinson Disease 6, Autosomal Recessive Early-Onset 57 29 6 70
Parkinson Disease 6 72 29 6
Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/dj1 29 6
Parkinson Disease 6, Early Onset 57 13
Parkinson's Disease 6 12 15
Park6 57 72
Parkinson Disease Autosomal Recessive Early-Onset Digenic Pink1/dj1 72
Parkinson Disease, Type 6, Autosomal Recessive, Early-Onset 39
Autosomal Recessive Early-Onset Parkinson Disease Type 6 72
Autosomal Recessive Early-Onset Parkinson's Disease 6 12
Autosomal Recessive Early-Onset Parkinson Disease 6 12
Parkinson Disease 6 Late-Onset Susceptibility to 72
Parkinson Disease 6, Early-Onset; Park6 57
Parkinson Disease 6, Early-Onset 57
Early-Onset Parkinson Disease 6 12
Parkinson Disease 6 Early-Onset 72
Parkinsonism Young Adult Onset 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slow progression
levodopa-responsive
early onset (9-48 years, but reported up to 68 years)
diurnal fluctuation
levodopa-induced dyskinesias
a subset of patients have heterozygous mutations, which may predispose to disease development

Inheritance:
autosomal recessive


HPO:

31
parkinson disease 6, autosomal recessive early-onset:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0060369
OMIM® 57 605909
OMIM Phenotypic Series 57 PS168600
UMLS 70 C1853833

Summaries for Parkinson Disease 6, Autosomal Recessive Early-Onset

UniProtKB/Swiss-Prot : 72 Parkinson disease 6: An early-onset form of Parkinson disease, 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. PARK6 pathogenesis involves respiratory complex I deficiency causing mitochondrial depolarization and dysfunction. Inheritance is autosomal recessive.

MalaCards based summary : Parkinson Disease 6, Autosomal Recessive Early-Onset, also known as parkinson disease 6, is related to parkinson disease 2, autosomal recessive juvenile and parkinson disease, late-onset, and has symptoms including bradykinesia, resting tremor and muscle rigidity. An important gene associated with Parkinson Disease 6, Autosomal Recessive Early-Onset is PINK1 (PTEN Induced Kinase 1), and among its related pathways/superpathways are Prion disease and Mitophagy. The drug Fluorodeoxyglucose F18 has been mentioned in the context of this disorder. Affiliated tissues include brain and subthalamic nucleus, and related phenotypes are hyperreflexia and depressivity

Disease Ontology : 12 An early-onset Parkinson's disease that has material basis in mutations in the PINK1 gene on chromosome 1p36.12.

More information from OMIM: 605909 PS168600

Related Diseases for Parkinson Disease 6, Autosomal Recessive Early-Onset

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 1, Autosomal Dominant Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12 Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10 Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset
Juvenile-Onset Parkinson's Disease Early-Onset Parkinson's Disease
Vps35-Related Parkinson Disease Hereditary Late-Onset Parkinson Disease

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 parkinson disease 2, autosomal recessive juvenile 31.1 PINK1-AS PINK1 PARK7 MT-ND6 MT-ND5
2 parkinson disease, late-onset 30.8 PINK1-AS PINK1 PARK7 MT-ND5
3 parkinsonism 30.3 PINK1 PARK7 MT-ND6
4 early-onset parkinson's disease 29.8 PINK1-AS PINK1 PARK7
5 dystonia 10.1
6 pink1 type of young-onset parkinson disease 10.1
7 parkinson disease 10 10.0 PINK1 PARK7
8 tremor 10.0
9 color agnosia 10.0 PINK1 PARK7
10 mitochondrial dna-associated leigh syndrome 10.0 MT-ND6 MT-ND5
11 mitochondrial dna-associated leigh syndrome and narp 10.0 MT-ND6 MT-ND5
12 parkinson disease 15, autosomal recessive early-onset 10.0 PINK1 PARK7
13 thelaziasis 10.0 MT-ND6 MT-ND5
14 hereditary optic neuropathy 10.0 MT-ND6 MT-ND5
15 kufor-rakeb syndrome 10.0 PINK1 PARK7
16 cortical blindness 10.0 MT-ND6 MT-ND5
17 dystonia 12 9.9 PINK1 PARK7
18 toxic encephalopathy 9.9 PINK1 PARK7
19 chronic progressive external ophthalmoplegia 9.9 MT-ND6 MT-ND5
20 optic atrophy 1 9.9 PINK1 PARK7
21 restless legs syndrome 9.9
22 autosomal recessive disease 9.9
23 neuroblastoma 9.9
24 rem sleep behavior disorder 9.9
25 cytokine deficiency 9.9
26 dysautonomia 9.9
27 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 9.9 PARK7 MT-ND6
28 cranial nerve disease 9.9 PINK1 MT-ND6 MT-ND5
29 myoclonic epilepsy associated with ragged-red fibers 9.8 MT-ND6 MT-ND5
30 optic nerve disease 9.8 PINK1 MT-ND6 MT-ND5
31 leber hereditary optic neuropathy, modifier of 9.8 PINK1 MT-ND6 MT-ND5
32 supranuclear palsy, progressive, 1 9.8 PINK1 PARK7
33 mitochondrial complex i deficiency, nuclear type 1 9.7 PINK1 PARK7 MT-ND6
34 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 9.7 MT-ND6 MT-ND5

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



Diseases related to Parkinson Disease 6, Autosomal Recessive Early-Onset

Symptoms & Phenotypes for Parkinson Disease 6, Autosomal Recessive Early-Onset

Human phenotypes related to Parkinson Disease 6, Autosomal Recessive Early-Onset:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 depressivity 31 HP:0000716
3 anxiety 31 HP:0000739
4 dystonia 31 HP:0001332
5 rigidity 31 HP:0002063
6 dementia 31 HP:0000726
7 postural instability 31 HP:0002172
8 urinary urgency 31 HP:0000012
9 parkinsonism 31 HP:0001300
10 bradykinesia 31 HP:0002067
11 resting tremor 31 HP:0002322

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Behavioral Psychiatric Manifestations:
anxiety
depression
psychiatric disturbances (25%)

Genitourinary Bladder:
urinary urgency (in 44% of patients)

Neurologic Central Nervous System:
rigidity
parkinsonism
bradykinesia
resting tremor
asymmetry at onset (74%)
more

Clinical features from OMIM®:

605909 (Updated 05-Apr-2021)

UMLS symptoms related to Parkinson Disease 6, Autosomal Recessive Early-Onset:


bradykinesia; resting tremor; muscle rigidity

Drugs & Therapeutics for Parkinson Disease 6, Autosomal Recessive Early-Onset

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fluorodeoxyglucose F18 Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 From Mouse Models to Patients: Development of a Novel 18F-DTBZ PET Imaging as a Biomarker to Monitor Neurodegeneration of PARK6 and PARK8 Parkinsonism Completed NCT01759888 Phase 2 18F-DTBZ
2 Hereditary Parkinson's Disease Natural History Protocol Completed NCT02511015

Search NIH Clinical Center for Parkinson Disease 6, Autosomal Recessive Early-Onset

Genetic Tests for Parkinson Disease 6, Autosomal Recessive Early-Onset

Genetic tests related to Parkinson Disease 6, Autosomal Recessive Early-Onset:

# Genetic test Affiliating Genes
1 Parkinson Disease 6, Autosomal Recessive Early-Onset 29 PINK1
2 Parkinson Disease 6 29
3 Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/dj1 29

Anatomical Context for Parkinson Disease 6, Autosomal Recessive Early-Onset

MalaCards organs/tissues related to Parkinson Disease 6, Autosomal Recessive Early-Onset:

40
Brain, Subthalamic Nucleus

Publications for Parkinson Disease 6, Autosomal Recessive Early-Onset

Articles related to Parkinson Disease 6, Autosomal Recessive Early-Onset:

(show all 40)
# Title Authors PMID Year
1
PINK1-linked parkinsonism is associated with Lewy body pathology. 57 6
20356854 2010
2
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. 57 6
18704525 2008
3
PINK1 mutations and parkinsonism. 6 57
18685134 2008
4
Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism. 6 57
18524835 2008
5
A heterozygous effect for PINK1 mutations in Parkinson's disease? 57 6
16969854 2006
6
T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. 6 57
17030667 2006
7
Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. 6 57
16966503 2006
8
Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease. 57 6
16632486 2006
9
Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? 6 57
16769864 2006
10
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. 6 57
15970950 2005
11
Novel PINK1 mutations in early-onset parkinsonism. 6 57
15349870 2004
12
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. 57 6
15087508 2004
13
Parkinson's disease-related gene variants influence pre-mRNA splicing processes. 6
27574110 2016
14
Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila. 6
23303188 2013
15
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. 6
22956510 2012
16
Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population. 6
21996382 2012
17
Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease. 6
20558144 2010
18
Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism. 6
18785233 2008
19
Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease. 57
18541801 2008
20
L347P PINK1 mutant that fails to bind to Hsp90/Cdc37 chaperones is rapidly degraded in a proteasome-dependent manner. 6
18359116 2008
21
Pink1 Parkinson mutations, the Cdc37/Hsp90 chaperones and Parkin all influence the maturation or subcellular distribution of Pink1. 6
18003639 2008
22
PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies. 6
17960343 2007
23
Novel features in a patient homozygous for the L347P mutation in the PINK1 gene. 6
17055324 2007
24
PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1. 6
17579517 2007
25
PINK1 mutations in sporadic early-onset Parkinson's disease. 6
16482571 2006
26
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. 6
16207731 2005
27
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. 57
16009891 2005
28
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. 57
15955954 2005
29
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. 6
15955953 2005
30
Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. 6
15824318 2005
31
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. 6
15596610 2004
32
PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations. 57
15505170 2004
33
PINK1 mutations are associated with sporadic early-onset parkinsonism. 57
15349860 2004
34
Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. 6
15349871 2004
35
PARK6-linked parkinsonism occurs in several European families. 57
11782979 2002
36
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. 57
11254447 2001
37
Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease. 61
32962737 2020
38
Patients' Expectations and Satisfaction in Subthalamic Nucleus Deep Brain Stimulation for Parkinson Disease: 6-Year Follow-up. 61
30292658 2019
39
Optimized, Minimal Specific Absorption Rate MRI for High-Resolution Imaging in Patients with Implanted Deep Brain Stimulation Electrodes. 61
27418467 2016
40
Quantitative analysis of rapid pointing movements in Cree subjects exposed to mercury and in subjects with neurological deficits. 61
9931227 1999

Variations for Parkinson Disease 6, Autosomal Recessive Early-Onset

ClinVar genetic disease variations for Parkinson Disease 6, Autosomal Recessive Early-Onset:

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PINK1-AS , PINK1 NM_032409.3(PINK1):c.926G>A (p.Gly309Asp) SNV Pathogenic 2404 rs74315355 GRCh37: 1:20971132-20971132
GRCh38: 1:20644639-20644639
2 PINK1-AS , PINK1 NM_032409.3(PINK1):c.813C>A (p.His271Gln) SNV Pathogenic 2405 rs28940284 GRCh37: 1:20971019-20971019
GRCh38: 1:20644526-20644526
3 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter) SNV Pathogenic 2406 rs74315356 GRCh37: 1:20975547-20975547
GRCh38: 1:20649054-20649054
4 PINK1 NM_032409.3(PINK1):c.736C>T (p.Arg246Ter) SNV Pathogenic 2407 rs74315357 GRCh37: 1:20966445-20966445
GRCh38: 1:20639952-20639952
5 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1570_1573dup (p.Asp525fs) Duplication Pathogenic 2409 rs730880302 GRCh37: 1:20977005-20977006
GRCh38: 1:20650512-20650513
6 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1597_1599CAA[3] (p.Gln534dup) Microsatellite Pathogenic 2410 rs750664040 GRCh37: 1:20977034-20977035
GRCh38: 1:20650541-20650542
7 PINK1-AS , PINK1 NM_032409.3(PINK1):c.836G>A (p.Arg279His) SNV Pathogenic 2411 rs74315358 GRCh37: 1:20971042-20971042
GRCh38: 1:20644549-20644549
8 PINK1-AS , PINK1 NM_032409.3(PINK1):c.938C>T (p.Thr313Met) SNV Pathogenic 2413 rs74315359 GRCh37: 1:20971144-20971144
GRCh38: 1:20644651-20644651
9 PINK1 NM_032409.3(PINK1):c.650C>A (p.Ala217Asp) SNV Pathogenic 2414 rs74315360 GRCh37: 1:20964597-20964597
GRCh38: 1:20638104-20638104
10 PARK7 NM_007262.5(PARK7):c.115G>T (p.Ala39Ser) SNV Pathogenic 7069 rs137853051 GRCh37: 1:8025408-8025408
GRCh38: 1:7965348-7965348
11 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1196C>T (p.Pro399Leu) SNV Pathogenic 2417 rs119451946 GRCh37: 1:20975070-20975070
GRCh38: 1:20648577-20648577
12 PINK1 NM_032409.3(PINK1):c.620del (p.Arg207fs) Deletion Pathogenic 189240 rs756677845 GRCh37: 1:20964567-20964567
GRCh38: 1:20638074-20638074
13 PINK1 NM_032409.3(PINK1):c.599del (p.Ala200fs) Deletion Pathogenic 581272 rs1557561340 GRCh37: 1:20964546-20964546
GRCh38: 1:20638053-20638053
14 PINK1 NM_032409.3(PINK1):c.13C>T (p.Gln5Ter) SNV Pathogenic 661098 rs1005937012 GRCh37: 1:20960054-20960054
GRCh38: 1:20633561-20633561
15 PINK1 NM_032409.3(PINK1):c.273del (p.Cys92fs) Deletion Pathogenic 664114 rs755000580 GRCh37: 1:20960314-20960314
GRCh38: 1:20633821-20633821
16 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1488+1G>A SNV Pathogenic 961640 GRCh37: 1:20975725-20975725
GRCh38: 1:20649232-20649232
17 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) SNV Pathogenic 2408 rs28940285 GRCh37: 1:20972133-20972133
GRCh38: 1:20645640-20645640
18 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter) SNV Pathogenic 2415 rs45539432 GRCh37: 1:20975602-20975602
GRCh38: 1:20649109-20649109
19 PINK1-AS and overlap with 1 gene(s) NM_005216.4(DDOST):c.*807_*5409del Deletion Pathogenic 2412 GRCh37: 1:20973463-20978065
GRCh38: 1:20646970-20651572
20 PINK1 NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) SNV Pathogenic 631591 rs756783990 GRCh37: 1:20966483-20966483
GRCh38: 1:20639990-20639990
21 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) SNV Pathogenic 431963 rs34208370 GRCh37: 1:20975710-20975710
GRCh38: 1:20649217-20649217
22 PINK1 NM_032409.3(PINK1):c.559_560del (p.Ser187fs) Microsatellite Pathogenic 1034138 GRCh37: 1:20964504-20964505
GRCh38: 1:20638011-20638012
23 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1252-1G>A SNV Likely pathogenic 934238 GRCh37: 1:20975487-20975487
GRCh38: 1:20648994-20648994
24 MT-ND6 m.14319T>C SNV risk factor 9695 rs199476110 GRCh37: MT:14319-14319
GRCh38: MT:14319-14319
25 MT-ND5 m.12397A>G SNV risk factor 9705 rs1556424100 GRCh37: MT:12397-12397
GRCh38: MT:12397-12397
26 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1291T>C (p.Tyr431His) SNV risk factor 2416 rs74315361 GRCh37: 1:20975527-20975527
GRCh38: 1:20649034-20649034
27 PINK1 , MIR6084 NM_032409.3(PINK1):c.165G>A (p.Glu55=) SNV Conflicting interpretations of pathogenicity 294998 rs537679886 GRCh37: 1:20960206-20960206
GRCh38: 1:20633713-20633713
28 PINK1-AS , PINK1 NM_032409.3(PINK1):c.827G>A (p.Arg276Gln) SNV Conflicting interpretations of pathogenicity 787365 rs548506734 GRCh37: 1:20971033-20971033
GRCh38: 1:20644540-20644540
29 PINK1 NM_032409.3(PINK1):c.88G>C (p.Gly30Arg) SNV Conflicting interpretations of pathogenicity 294997 rs569753606 GRCh37: 1:20960129-20960129
GRCh38: 1:20633636-20633636
30 PINK1-AS , PINK1 NM_032409.3(PINK1):c.936G>A (p.Arg312=) SNV Conflicting interpretations of pathogenicity 295002 rs56200357 GRCh37: 1:20971142-20971142
GRCh38: 1:20644649-20644649
31 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1251+10G>A SNV Conflicting interpretations of pathogenicity 288962 rs192131551 GRCh37: 1:20975135-20975135
GRCh38: 1:20648642-20648642
32 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser) SNV Conflicting interpretations of pathogenicity 703421 rs45478900 GRCh37: 1:20975105-20975105
GRCh38: 1:20648612-20648612
33 PINK1-AS , PINK1 NM_032409.3(PINK1):c.858G>A (p.Pro286=) SNV Conflicting interpretations of pathogenicity 289332 rs148144773 GRCh37: 1:20971064-20971064
GRCh38: 1:20644571-20644571
34 PINK1 NM_032409.3(PINK1):c.770C>T (p.Thr257Ile) SNV Uncertain significance 374599 rs370906995 GRCh37: 1:20966479-20966479
GRCh38: 1:20639986-20639986
35 PINK1-AS , PINK1 NM_032409.3(PINK1):c.802C>G (p.Leu268Val) SNV Uncertain significance 374600 rs372280083 GRCh37: 1:20971008-20971008
GRCh38: 1:20644515-20644515
36 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1580T>C (p.Met527Thr) SNV Uncertain significance 1009480 GRCh37: 1:20977018-20977018
GRCh38: 1:20650525-20650525
37 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1573G>A (p.Asp525Asn) SNV Uncertain significance 1011956 GRCh37: 1:20977011-20977011
GRCh38: 1:20650518-20650518
38 PINK1 NM_032409.3(PINK1):c.587C>T (p.Pro196Leu) SNV Uncertain significance 445908 rs138302371 GRCh37: 1:20964534-20964534
GRCh38: 1:20638041-20638041
39 PINK1 NM_032409.3(PINK1):c.449G>A (p.Gly150Asp) SNV Uncertain significance 846127 GRCh37: 1:20964396-20964396
GRCh38: 1:20637903-20637903
40 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1065A>G (p.Gln355=) SNV Uncertain significance 859181 GRCh37: 1:20972158-20972158
GRCh38: 1:20645665-20645665
41 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1095C>T (p.Ser365=) SNV Uncertain significance 874928 GRCh37: 1:20972188-20972188
GRCh38: 1:20645695-20645695
42 PINK1 NM_032409.3(PINK1):c.76G>C (p.Gly26Arg) SNV Uncertain significance 1016581 GRCh37: 1:20960117-20960117
GRCh38: 1:20633624-20633624
43 PINK1-AS , PINK1 NM_032409.3(PINK1):c.838G>A (p.Ala280Thr) SNV Uncertain significance 1017772 GRCh37: 1:20971044-20971044
GRCh38: 1:20644551-20644551
44 PINK1 NM_032409.3(PINK1):c.388-3C>T SNV Uncertain significance 1021120 GRCh37: 1:20964332-20964332
GRCh38: 1:20637839-20637839
45 PINK1 NM_032409.3(PINK1):c.124C>T (p.Arg42Cys) SNV Uncertain significance 939290 GRCh37: 1:20960165-20960165
GRCh38: 1:20633672-20633672
46 PINK1 NM_032409.3(PINK1):c.565G>A (p.Gly189Arg) SNV Uncertain significance 493026 rs757581951 GRCh37: 1:20964512-20964512
GRCh38: 1:20638019-20638019
47 PINK1 NM_032409.3(PINK1):c.488G>A (p.Gly163Asp) SNV Uncertain significance 1040371 GRCh37: 1:20964435-20964435
GRCh38: 1:20637942-20637942
48 PINK1-AS , PINK1 NM_032409.3(PINK1):c.1123+19A>G SNV Uncertain significance 1030968 GRCh37: 1:20972235-20972235
GRCh38: 1:20645742-20645742
49 PINK1 , MIR6084 NM_032409.3(PINK1):c.161C>A (p.Ala54Glu) SNV Uncertain significance 1030969 GRCh37: 1:20960202-20960202
GRCh38: 1:20633709-20633709
50 PINK1 NM_032409.3(PINK1):c.745T>G (p.Leu249Val) SNV Uncertain significance 806077 rs145650643 GRCh37: 1:20966454-20966454
GRCh38: 1:20639961-20639961

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 6, Autosomal Recessive Early-Onset:

72 (show all 23)
# Symbol AA change Variation ID SNP ID
1 PINK1 p.Gly309Asp VAR_018994 rs74315355
2 PINK1 p.Cys92Phe VAR_046568 rs155314555
3 PINK1 p.Ala168Pro VAR_046575 rs768091663
4 PINK1 p.Pro196Leu VAR_046577 rs138302371
5 PINK1 p.Ala217Asp VAR_046578 rs74315360
6 PINK1 p.Glu240Lys VAR_046581 rs573931674
7 PINK1 p.Leu268Val VAR_046584 rs372280083
8 PINK1 p.His271Gln VAR_046585 rs28940284
9 PINK1 p.Arg279His VAR_046587 rs74315358
10 PINK1 p.Thr313Met VAR_046589 rs74315359
11 PINK1 p.Leu347Pro VAR_046593 rs28940285
12 PINK1 p.Cys388Arg VAR_046596 rs155314680
13 PINK1 p.Glu417Gly VAR_046599 rs155314682
14 PINK1 p.Arg464His VAR_046605 rs764328076
15 PINK1 p.Leu489Pro VAR_046607 rs155314690
16 PINK1 p.Cys125Gly VAR_062773
17 PINK1 p.Ala280Thr VAR_062774 rs772510148
18 PINK1 p.Leu369Pro VAR_062775 rs119588886
19 PINK1 p.Gly386Ala VAR_062776
20 PINK1 p.Arg407Gln VAR_062778 rs556540177
21 PINK1 p.Gly409Val VAR_062779 rs155314681
22 PINK1 p.Gln126Pro VAR_064344 rs775809722
23 PINK1 p.Val170Gly VAR_078934 rs155314592

Expression for Parkinson Disease 6, Autosomal Recessive Early-Onset

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

Pathways for Parkinson Disease 6, Autosomal Recessive Early-Onset

Pathways related to Parkinson Disease 6, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.97 PINK1 PARK7 MT-ND6 MT-ND5
2
Show member pathways
10.82 PINK1 MIR6084
3 10.72 PINK1 PARK7 MIR6084

GO Terms for Parkinson Disease 6, Autosomal Recessive Early-Onset

Cellular components related to Parkinson Disease 6, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial intermembrane space GO:0005758 9.16 PINK1 PARK7
2 mitochondrion GO:0005739 9.02 PINK1 PARK7 MT-ND6 MT-ND5 FATE1
3 respiratory chain GO:0070469 8.96 MT-ND6 MT-ND5

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex I assembly GO:0032981 9.49 MT-ND6 MT-ND5
2 negative regulation of neuron death GO:1901215 9.48 PINK1 PARK7
3 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.46 MT-ND6 MT-ND5
4 activation of protein kinase B activity GO:0032148 9.43 PINK1 PARK7
5 regulation of mitochondrial membrane potential GO:0051881 9.4 PINK1 PARK7
6 regulation of neuron apoptotic process GO:0043523 9.37 PINK1 PARK7
7 response to hydrogen peroxide GO:0042542 9.33 PARK7 MT-ND6 MT-ND5
8 negative regulation of oxidative stress-induced neuron death GO:1903204 9.32 PINK1 PARK7
9 negative regulation of oxidative stress-induced cell death GO:1903202 9.26 PINK1 PARK7
10 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 8.96 PINK1 PARK7
11 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 8.62 PINK1 PARK7

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

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.62 MT-ND6 MT-ND5

Sources for Parkinson Disease 6, Autosomal Recessive Early-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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