PARK8
MCID: PRK093
MIFTS: 49

Parkinson Disease 8, Autosomal Dominant (PARK8)

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

Aliases & Classifications for Parkinson Disease 8, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 8, Autosomal Dominant:

Name: Parkinson Disease 8, Autosomal Dominant 57 29 6
Parkinson Disease 8 57 72 13 70
Parkinson's Disease 8 12 15
Park8 57 72
Parkinson Disease, Type 8, Autosomal Dominant 39
Autosomal Dominant Parkinson's Disease 8 12
Autosomal Dominant Parkinson Disease 8 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slow progression
onset 50 to 65 years
relatively benign course
reduced penetrance, estimated to be 15% at 60 years, 21% at 70 years, and 32% at 80 years

Inheritance:
autosomal dominant


HPO:

31
parkinson disease 8, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060371
OMIM® 57 607060
OMIM Phenotypic Series 57 PS168600
MeSH 44 D010300
MedGen 41 C1846862
UMLS 70 C1846862 C3501658

Summaries for Parkinson Disease 8, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 Parkinson disease 8: A slowly progressive neurodegenerative disorder characterized by bradykinesia, rigidity, resting tremor, postural instability, neuronal loss in the substantia nigra, and the presence of neurofibrillary MAPT (tau)-positive and Lewy bodies in some patients.

MalaCards based summary : Parkinson Disease 8, Autosomal Dominant, also known as parkinson disease 8, is related to multiple system atrophy 1 and parkinson disease, late-onset, and has symptoms including hyposmia, bradykinesia and resting tremor. An important gene associated with Parkinson Disease 8, Autosomal Dominant is LRRK2 (Leucine Rich Repeat Kinase 2), and among its related pathways/superpathways are GDNF-Family Ligands and Receptor Interactions and Parkinsons Disease Pathway. The drugs Fluorodeoxyglucose F18 and Leucine have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are hyposmia and rigidity

Disease Ontology : 12 A late onset Parkinson's disease that has material basis in heterozygous mutation in the dardarin encoding gene on chromosome 12q12.

More information from OMIM: 607060 PS168600

Related Diseases for Parkinson Disease 8, Autosomal Dominant

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 8, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 multiple system atrophy 1 29.8 TH SLC6A3 LRRK2
2 parkinson disease, late-onset 29.8 TTR TH SLC6A3 NRTN MAF LRRK2
3 supranuclear palsy, progressive, 1 29.5 TH SLC6A3 LRRK2
4 dementia, lewy body 29.5 TH SLC6A3 LRRK2
5 parkinsonism 10.4
6 klippel-feil syndrome 1 10.3 LRRK2 GDF6
7 klippel-feil syndrome 1, autosomal dominant 10.3 LRRK2 GDF6
8 lrrk2 parkinson disease 10.3
9 isolated klippel-feil syndrome 10.3 LRRK2 GDF6
10 hypoganglionosis 10.2 TH RET
11 tremor 10.2
12 skin lipoma 10.2 RET GFRA1
13 carotenemia 10.1 TTR GJB2
14 parkinson disease 3, autosomal dominant 10.1
15 autonomic nervous system benign neoplasm 10.0 TH RET
16 hereditary late-onset parkinson disease 10.0
17 pure autonomic failure 10.0 TTR TH
18 peripheral nervous system benign neoplasm 10.0 TH RET
19 neuropathy, hereditary sensory and autonomic, type iib 10.0 MAF GOLPH3
20 renal hypodysplasia/aplasia 1 9.9 RET NRTN GFRA1
21 parkinson disease 4, autosomal dominant 9.9 TH SLC6A3
22 amphetamine abuse 9.9 TH SLC6A3
23 multiple endocrine neoplasia, type iib 9.9 RET NRTN GFRA1 ARTN
24 multiple endocrine neoplasia, type iia 9.9 RET NRTN GFRA1 ARTN
25 central hypoventilation syndrome, congenital 9.9 TH RET NRTN GFRA1
26 megacolon 9.9 RET NRTN GFRA1 ARTN
27 aspiration pneumonia 9.9
28 postencephalitic parkinson disease 9.9 TH SLC6A3 LRRK2
29 alzheimer disease 9.9
30 amyotrophic lateral sclerosis 1 9.9
31 early-onset parkinson's disease 9.9
32 rapidly involuting congenital hemangioma 9.9
33 lateral sclerosis 9.9
34 dystonia 9.9
35 hirschsprung disease 1 9.9 RET NRTN GFRA1 ARTN
36 cakut 9.8 RET GFRA1 GDF6 APOL1
37 toxic encephalopathy 9.8 TH SLC6A3 LRRK2
38 delusional disorder 9.8 TH SLC6A3
39 mixed cerebral palsy 9.8 TTR SLC6A3
40 bestiality 9.8 TTR SLC6A3
41 gilles de la tourette syndrome 9.7 TH SLC6A3 ADORA2A
42 movement disease 9.7 TH SLC6A3 NRTN LRRK2
43 sleep disorder 9.7 TH SLC6A3 LRRK2 ADORA2A
44 peripheral nervous system disease 9.6 TTR TH LRRK2 HFE CHL1
45 phenylketonuria 9.6 TTR TH SLC6A3
46 paroxysmal dystonia 9.6 TH SLC6A3
47 disease of mental health 8.3 TTR TH SLC6A3 MC4R MAF LRRK2

Graphical network of the top 20 diseases related to Parkinson Disease 8, Autosomal Dominant:



Diseases related to Parkinson Disease 8, Autosomal Dominant

Symptoms & Phenotypes for Parkinson Disease 8, Autosomal Dominant

Human phenotypes related to Parkinson Disease 8, Autosomal Dominant:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hyposmia 31 HP:0004409
2 rigidity 31 HP:0002063
3 dementia 31 HP:0000726
4 postural instability 31 HP:0002172
5 bradykinesia 31 HP:0002067
6 resting tremor 31 HP:0002322
7 lewy bodies 31 HP:0100315
8 parkinsonism with favorable response to dopaminergic medication 31 HP:0002548
9 substantia nigra gliosis 31 HP:0011960

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
hyposmia

Neurologic Central Nervous System:
rigidity
postural instability
parkinsonism
bradykinesia
resting tremor
more

Clinical features from OMIM®:

607060 (Updated 05-Apr-2021)

UMLS symptoms related to Parkinson Disease 8, Autosomal Dominant:


hyposmia; bradykinesia; resting tremor; muscle rigidity

MGI Mouse Phenotypes related to Parkinson Disease 8, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 ADORA2A CHL1 GFRA1 GOLPH3 HFE LRRK2
2 immune system MP:0005387 10.15 ADORA2A GFRA1 GJB2 GOLPH3 HFE LRRK2
3 nervous system MP:0003631 10.13 ADORA2A AMIGO2 ARTN CHL1 GDF6 GFRA1
4 integument MP:0010771 9.97 ADORA2A GFRA1 GJB2 GOLPH3 LRRK2 MAF
5 no phenotypic analysis MP:0003012 9.76 GJB2 HFE LRRK2 MC4R RET SPINK1
6 normal MP:0002873 9.56 GFRA1 GJB2 HFE LRRK2 MC4R RET
7 vision/eye MP:0005391 9.28 ADORA2A AMIGO2 ARTN GDF6 GJB2 MAF

Drugs & Therapeutics for Parkinson Disease 8, Autosomal Dominant

Drugs for Parkinson Disease 8, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fluorodeoxyglucose F18 Phase 2
2
Leucine Investigational, Nutraceutical 61-90-5 6106

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 Longitudinal Study of Molecular Pathology and Neuronal Networks in Leucine-rich Repeat Kinase 2 Carriers and Idiopathic Parkinson's Disease Patients and Healthy Controls Using PET, MR Imaging, and Other Markers of in Vivo Pathology Recruiting NCT03782753

Search NIH Clinical Center for Parkinson Disease 8, Autosomal Dominant

Genetic Tests for Parkinson Disease 8, Autosomal Dominant

Genetic tests related to Parkinson Disease 8, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Parkinson Disease 8, Autosomal Dominant 29 LRRK2

Anatomical Context for Parkinson Disease 8, Autosomal Dominant

MalaCards organs/tissues related to Parkinson Disease 8, Autosomal Dominant:

40
Skin

Publications for Parkinson Disease 8, Autosomal Dominant

Articles related to Parkinson Disease 8, Autosomal Dominant:

(show top 50) (show all 97)
# Title Authors PMID Year
1
Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease. 57 6
20008657 2009
2
Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease? 6 57
18981379 2008
3
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. 6 57
18704525 2008
4
The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect? 57 6
17938369 2007
5
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. 57 6
16966502 2006
6
LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century. 57 6
16145815 2005
7
An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. 6 57
15880653 2005
8
A common LRRK2 mutation in idiopathic Parkinson's disease. 6 57
15680457 2005
9
Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. 57 6
15680455 2005
10
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. 6 57
15680456 2005
11
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. 57 6
15541309 2004
12
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. 57 6
15541308 2004
13
Autosomal dominant familial Parkinson disease: older onset of age, and good response to levodopa therapy. 6 57
9276200 1997
14
Western Nebraska family (family D) with autosomal dominant parkinsonism. 6 57
7898705 1995
15
The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot. 6
27111571 2016
16
Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression. 6
26251043 2015
17
The association between the LRRK2 G2385R variant and the risk of Parkinson's disease: a meta-analysis based on 23 case-control studies. 6
25027012 2014
18
Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations. 6
24565865 2014
19
The Parkinson disease-linked LRRK2 protein mutation I2020T stabilizes an active state conformation leading to increased kinase activity. 6
24695735 2014
20
Ser1292 autophosphorylation is an indicator of LRRK2 kinase activity and contributes to the cellular effects of PD mutations. 6
23241745 2012
21
Progressive degeneration of human neural stem cells caused by pathogenic LRRK2. 6
23075850 2012
22
Quantitative assessment of the effect of LRRK2 exonic variants on the risk of Parkinson's disease: a meta-analysis. 6
22575234 2012
23
Parkinson disease, cancer, and LRRK2: causation or association? 57
22323745 2012
24
The LRRK2 G2019S mutation is associated with Parkinson disease and concomitant non-skin cancers. 57
22323743 2012
25
Cerebrospinal fluid amyloid β and tau in LRRK2 mutation carriers. 57
22170881 2012
26
The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy. 6
21538529 2011
27
LRRK2 directly phosphorylates Akt1 as a possible physiological substrate: impairment of the kinase activity by Parkinson's disease-associated mutations. 6
21658387 2011
28
Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers. 57
21753163 2011
29
Olfactory dysfunction in LRRK2 G2019S mutation carriers. 57
21753159 2011
30
Dopaminergic neuronal loss, reduced neurite complexity and autophagic abnormalities in transgenic mice expressing G2019S mutant LRRK2. 6
21494637 2011
31
Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2. 6
21115957 2010
32
Inhibitors of leucine-rich repeat kinase-2 protect against models of Parkinson's disease. 57
20729864 2010
33
Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study. 57
20837857 2010
34
Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus. 57
20697102 2010
35
Pathogenic LRRK2 negatively regulates microRNA-mediated translational repression. 57
20671708 2010
36
LRRK2 and Parkinson disease. 57
20457952 2010
37
Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter study. 6
20186690 2010
38
LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease. 57
19458969 2010
39
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. 57
19915576 2009
40
Identification of four novel potentially Parkinson's disease associated LRRK2 variations among Iranian patients. 6
19800393 2009
41
Lrrk2 R1441G-related Parkinson's disease: evidence of a common founding event in the seventh century in Northern Spain. 6
19308469 2009
42
Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries. 6
19283415 2009
43
R1441C mutation in LRRK2 impairs dopaminergic neurotransmission in mice. 6
19667187 2009
44
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease. 57
19357115 2009
45
LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity. 6
19020907 2009
46
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 6
19129173 2009
47
Progression of dopaminergic dysfunction in a LRRK2 kindred: a multitracer PET study. 57
19029519 2008
48
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. 6
18986508 2008
49
Lrrk2 R1628P in non-Chinese Asian races. 6
18688798 2008
50
Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data. 57
18809839 2008

Variations for Parkinson Disease 8, Autosomal Dominant

ClinVar genetic disease variations for Parkinson Disease 8, Autosomal Dominant:

6 (show top 50) (show all 333)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRRK2 NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly) SNV Pathogenic 1936 rs33939927 GRCh37: 12:40704236-40704236
GRCh38: 12:40310434-40310434
2 LRRK2 NM_198578.4(LRRK2):c.5096A>G (p.Tyr1699Cys) SNV Pathogenic 1937 rs35801418 GRCh37: 12:40714916-40714916
GRCh38: 12:40321114-40321114
3 LRRK2 NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) SNV Pathogenic 1938 rs33939927 GRCh37: 12:40704236-40704236
GRCh38: 12:40310434-40310434
4 LRRK2 NM_198578.4(LRRK2):c.3364A>G (p.Ile1122Val) SNV Pathogenic 1939 rs34805604 GRCh37: 12:40692927-40692927
GRCh38: 12:40299125-40299125
5 LRRK2 NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His) SNV Pathogenic 1942 rs34995376 GRCh37: 12:40704237-40704237
GRCh38: 12:40310435-40310435
6 LRRK2 NM_198578.4(LRRK2):c.4309A>C (p.Asn1437His) SNV Pathogenic 39183 rs74163686 GRCh37: 12:40703027-40703027
GRCh38: 12:40309225-40309225
7 LRRK2 NM_198578.4(LRRK2):c.5620G>T (p.Glu1874Ter) SNV Pathogenic 39215 rs281865054 GRCh37: 12:40717072-40717072
GRCh38: 12:40323270-40323270
8 LRRK2 NM_198578.4(LRRK2):c.5605A>G (p.Met1869Val) SNV Pathogenic 39212 rs281865052 GRCh37: 12:40717057-40717057
GRCh38: 12:40323255-40323255
9 LRRK2 NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) SNV Pathogenic 39164 rs35808389 GRCh37: 12:40692290-40692290
GRCh38: 12:40298488-40298488
10 GDF6 NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) SNV Pathogenic 8373 rs121909353 GRCh37: 8:97156888-97156888
GRCh38: 8:96144660-96144660
11 LRRK2 NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) SNV Pathogenic 39198 rs33949390 GRCh37: 12:40713845-40713845
GRCh38: 12:40320043-40320043
12 LRRK2 NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr) SNV Pathogenic 1941 rs35870237 GRCh37: 12:40734206-40734206
GRCh38: 12:40340404-40340404
13 LRRK2 NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) SNV Pathogenic 1940 rs34637584 GRCh37: 12:40734202-40734202
GRCh38: 12:40340400-40340400
14 LRRK2 NM_198578.4(LRRK2):c.4321C>A (p.Arg1441Ser) SNV Likely pathogenic 225276 rs33939927 GRCh37: 12:40704236-40704236
GRCh38: 12:40310434-40310434
15 LRRK2 NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met) SNV Conflicting interpretations of pathogenicity 39149 rs35173587 GRCh37: 12:40677813-40677813
GRCh38: 12:40284011-40284011
16 LRRK2 NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) SNV Conflicting interpretations of pathogenicity 1943 rs34778348 GRCh37: 12:40757328-40757328
GRCh38: 12:40363526-40363526
17 LRRK2 NM_198578.4(LRRK2):c.6801C>T (p.Thr2267=) SNV Conflicting interpretations of pathogenicity 308644 rs148143226 GRCh37: 12:40749947-40749947
GRCh38: 12:40356145-40356145
18 LRRK2 NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) SNV Conflicting interpretations of pathogenicity 39198 rs33949390 GRCh37: 12:40713845-40713845
GRCh38: 12:40320043-40320043
19 LRRK2 NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys) SNV Conflicting interpretations of pathogenicity 39128 rs78501232 GRCh37: 12:40645075-40645075
GRCh38: 12:40251273-40251273
20 LRRK2 NM_198578.4(LRRK2):c.3777+7C>T SNV Conflicting interpretations of pathogenicity 308629 rs41286480 GRCh37: 12:40697943-40697943
GRCh38: 12:40304141-40304141
21 LRRK2 NM_198578.4(LRRK2):c.4536+3A>G SNV Conflicting interpretations of pathogenicity 703922 rs41286476 GRCh37: 12:40704454-40704454
GRCh38: 12:40310652-40310652
22 LRRK2 NM_198578.4(LRRK2):c.632C>T (p.Ala211Val) SNV Conflicting interpretations of pathogenicity 39223 rs112794616 GRCh37: 12:40634345-40634345
GRCh38: 12:40240543-40240543
23 LRRK2 NM_198578.4(LRRK2):c.177T>A (p.Asn59Lys) SNV Conflicting interpretations of pathogenicity 533778 rs150422099 GRCh37: 12:40619382-40619382
GRCh38: 12:40225580-40225580
24 LRRK2 NM_198578.4(LRRK2):c.5713G>C (p.Val1905Leu) SNV Conflicting interpretations of pathogenicity 308640 rs754436306 GRCh37: 12:40722218-40722218
GRCh38: 12:40328416-40328416
25 LRRK2 NM_198578.4(LRRK2):c.1073C>T (p.Thr358Met) SNV Conflicting interpretations of pathogenicity 663402 rs141262110 GRCh37: 12:40645148-40645148
GRCh38: 12:40251346-40251346
26 LRRK2 NM_198578.4(LRRK2):c.825T>C (p.His275=) SNV Uncertain significance 804996 rs72546315 GRCh37: 12:40637470-40637470
GRCh38: 12:40243668-40243668
27 LRRK2 NM_198578.4(LRRK2):c.5363T>C (p.Met1788Thr) SNV Uncertain significance 641128 rs376533552 GRCh37: 12:40716166-40716166
GRCh38: 12:40322364-40322364
28 LRRK2 NM_198578.4(LRRK2):c.3935G>A (p.Gly1312Glu) SNV Uncertain significance 963111 GRCh37: 12:40699744-40699744
GRCh38: 12:40305942-40305942
29 LRRK2 NM_198578.4(LRRK2):c.1030G>A (p.Glu344Lys) SNV Uncertain significance 963191 GRCh37: 12:40645105-40645105
GRCh38: 12:40251303-40251303
30 LRRK2 NM_198578.4(LRRK2):c.3018A>G (p.Ile1006Met) SNV Uncertain significance 39159 rs113217062 GRCh37: 12:40689368-40689368
GRCh38: 12:40295566-40295566
31 LRRK2 NM_198578.4(LRRK2):c.*935_*936dup Duplication Uncertain significance 308664 rs367772598 GRCh37: 12:40762492-40762493
GRCh38: 12:40368690-40368691
32 LRRK2 NM_198578.4(LRRK2):c.1352A>G (p.Lys451Arg) SNV Uncertain significance 647525 rs1592172389 GRCh37: 12:40651113-40651113
GRCh38: 12:40257311-40257311
33 LRRK2 NM_198578.4(LRRK2):c.3184A>G (p.Asn1062Asp) SNV Uncertain significance 647579 rs201935017 GRCh37: 12:40692132-40692132
GRCh38: 12:40298330-40298330
34 LRRK2 NM_198578.4(LRRK2):c.6347A>G (p.Lys2116Arg) SNV Uncertain significance 649401 rs1592321778 GRCh37: 12:40742277-40742277
GRCh38: 12:40348475-40348475
35 LRRK2 NM_198578.4(LRRK2):c.4894G>C (p.Glu1632Gln) SNV Uncertain significance 652400 rs200580973 GRCh37: 12:40713856-40713856
GRCh38: 12:40320054-40320054
36 LRRK2 NM_198578.4(LRRK2):c.2357T>C (p.Ile786Thr) SNV Uncertain significance 661611 rs1592220766 GRCh37: 12:40677792-40677792
GRCh38: 12:40283990-40283990
37 LRRK2 NM_198578.4(LRRK2):c.1865G>C (p.Gly622Ala) SNV Uncertain significance 662235 rs1592203496 GRCh37: 12:40668719-40668719
GRCh38: 12:40274917-40274917
38 LRRK2 NM_198578.4(LRRK2):c.6004C>G (p.Leu2002Val) SNV Uncertain significance 881285 GRCh37: 12:40734151-40734151
GRCh38: 12:40340349-40340349
39 LRRK2 NM_198578.4(LRRK2):c.*497C>T SNV Uncertain significance 881346 GRCh37: 12:40762064-40762064
GRCh38: 12:40368262-40368262
40 LRRK2 NM_198578.4(LRRK2):c.606C>T (p.Asn202=) SNV Uncertain significance 881601 GRCh37: 12:40634319-40634319
GRCh38: 12:40240517-40240517
41 LRRK2 NM_198578.4(LRRK2):c.2443C>A (p.Pro815Thr) SNV Uncertain significance 881644 GRCh37: 12:40677878-40677878
GRCh38: 12:40284076-40284076
42 LRRK2 NM_198578.4(LRRK2):c.6428G>A (p.Arg2143His) SNV Uncertain significance 39227 rs201271001 GRCh37: 12:40745387-40745387
GRCh38: 12:40351585-40351585
43 LRRK2 NM_198578.4(LRRK2):c.2758G>A (p.Ala920Thr) SNV Uncertain significance 881646 GRCh37: 12:40687415-40687415
GRCh38: 12:40293613-40293613
44 LRRK2 NM_198578.4(LRRK2):c.*751C>A SNV Uncertain significance 881789 GRCh37: 12:40762318-40762318
GRCh38: 12:40368516-40368516
45 LRRK2 NM_198578.4(LRRK2):c.*769T>G SNV Uncertain significance 881790 GRCh37: 12:40762336-40762336
GRCh38: 12:40368534-40368534
46 LRRK2 NM_198578.4(LRRK2):c.*908A>C SNV Uncertain significance 881791 GRCh37: 12:40762475-40762475
GRCh38: 12:40368673-40368673
47 LRRK2 NM_198578.4(LRRK2):c.6583G>T (p.Ala2195Ser) SNV Uncertain significance 881737 GRCh37: 12:40748107-40748107
GRCh38: 12:40354305-40354305
48 LRRK2 NM_198578.4(LRRK2):c.*934_*936dup Duplication Uncertain significance 308665 rs367772598 GRCh37: 12:40762492-40762493
GRCh38: 12:40368690-40368691
49 LRRK2 NM_198578.4(LRRK2):c.*936dup Duplication Uncertain significance 308663 rs367772598 GRCh37: 12:40762492-40762493
GRCh38: 12:40368690-40368691
50 LRRK2 NM_198578.4(LRRK2):c.*1279T>C SNV Uncertain significance 308676 rs886049369 GRCh37: 12:40762846-40762846
GRCh38: 12:40369044-40369044

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 8, Autosomal Dominant:

72 (show all 23)
# Symbol AA change Variation ID SNP ID
1 LRRK2 p.Arg1067Gln VAR_024938 rs111341148
2 LRRK2 p.Ile1122Val VAR_024940 rs34805604
3 LRRK2 p.Ser1228Thr VAR_024941 rs60185966
4 LRRK2 p.Arg1441Cys VAR_024945 rs33939927
5 LRRK2 p.Arg1441Gly VAR_024946 rs33939927
6 LRRK2 p.Arg1441His VAR_024947 rs34995376
7 LRRK2 p.Tyr1699Cys VAR_024954 rs35801418
8 LRRK2 p.Arg1941His VAR_024956 rs77428810
9 LRRK2 p.Gly2019Ser VAR_024958 rs34637584
10 LRRK2 p.Ile2020Thr VAR_024959 rs35870237
11 LRRK2 p.Thr2356Ile VAR_024963 rs113511708
12 LRRK2 p.Gly2385Arg VAR_024964 rs34778348
13 LRRK2 p.Met712Val VAR_054741 rs199566791
14 LRRK2 p.Arg1728His VAR_054744 rs145364431
15 LRRK2 p.Arg1728Leu VAR_054745 rs145364431
16 LRRK2 p.Thr2141Met VAR_054747 rs111691891
17 LRRK2 p.Arg2143His VAR_054748 rs201271001
18 LRRK2 p.Leu2466His VAR_054750 rs281865057
19 LRRK2 p.Thr2031Ser VAR_082047 rs78029637
20 LRRK2 p.Asp2175His VAR_082048 rs72547981
21 LRRK2 p.Tyr2189Cys VAR_082049 rs35658131
22 LRRK2 p.Val2390Met VAR_082050 rs79546190
23 LRRK2 p.Leu2439Ile VAR_082051 rs72547983

Expression for Parkinson Disease 8, Autosomal Dominant

Search GEO for disease gene expression data for Parkinson Disease 8, Autosomal Dominant.

Pathways for Parkinson Disease 8, Autosomal Dominant

Pathways related to Parkinson Disease 8, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 RET NRTN GFRA1 ARTN
2 11.42 TH SLC6A3 LRRK2
3
Show member pathways
10.97 TH SLC6A3 ADORA2A
4
Show member pathways
10.77 TH SLC6A3
5 10.7 NRTN GFRA1 ARTN
6 10.67 TH MC4R
7 10.28 TH SLC6A3 RET

GO Terms for Parkinson Disease 8, Autosomal Dominant

Cellular components related to Parkinson Disease 8, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.35 TH SLC6A3 RET LRRK2 ADORA2A
2 axon GO:0030424 9.1 TH SLC6A3 RET NRTN LRRK2 ADORA2A

Biological processes related to Parkinson Disease 8, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.81 TH SLC6A3 RET ADORA2A
2 locomotory behavior GO:0007626 9.63 TH SLC6A3 ADORA2A
3 response to iron ion GO:0010039 9.52 SLC6A3 HFE
4 neurotransmitter biosynthetic process GO:0042136 9.49 TH SLC6A3
5 prepulse inhibition GO:0060134 9.48 SLC6A3 ADORA2A
6 dopamine biosynthetic process GO:0042416 9.43 TH SLC6A3
7 cellular response to manganese ion GO:0071287 9.4 TH LRRK2
8 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.37 RET GFRA1
9 MAPK cascade GO:0000165 9.35 RET NRTN LRRK2 GFRA1 ARTN
10 hyaloid vascular plexus regression GO:1990384 9.32 TH SLC6A3
11 lymphocyte migration into lymphoid organs GO:0097021 9.26 RET ARTN
12 Peyer's patch morphogenesis GO:0061146 9.16 RET ARTN
13 axon guidance GO:0007411 9.02 RET NRTN GFRA1 CHL1 ARTN

Molecular functions related to Parkinson Disease 8, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.35 SLC6A3 NRTN HFE GFRA1 ARTN
2 hormone binding GO:0042562 9.32 TTR MC4R
3 co-receptor binding GO:0039706 9.26 LRRK2 HFE
4 dopamine binding GO:0035240 9.16 TH SLC6A3
5 glial cell-derived neurotrophic factor receptor binding GO:0030116 8.62 NRTN ARTN

Sources for Parkinson Disease 8, Autosomal Dominant

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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