PARK8
MCID: PRK093
MIFTS: 25

Parkinson Disease 8, Autosomal Dominant (PARK8)

Categories: 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 75 13 73
Park8 57 75
Parkinson Disease, Type 8, Autosomal Dominant 40
Autosomal Dominant Parkinson's Disease 8 12
Autosomal Dominant Parkinson Disease 8 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
parkinson disease 8, autosomal dominant:
Onset and clinical course incomplete penetrance slow progression
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Parkinson Disease 8, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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 parkinson disease, late-onset and lrrk2-related parkinson disease, and has symptoms including bradykinesia, hyposmia and resting tremor. An important gene associated with Parkinson Disease 8, Autosomal Dominant is LRRK2 (Leucine Rich Repeat Kinase 2). The drug Fluorodeoxyglucose F18 has been mentioned in the context of this disorder. Related phenotypes are rigidity and dementia

Disease Ontology : 12 A Parkinson's disease that has material basis in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12.

Description from OMIM: 607060

Related Diseases for Parkinson Disease 8, Autosomal Dominant

Symptoms & Phenotypes for Parkinson Disease 8, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
rigidity
bradykinesia
parkinsonism
postural instability
resting tremor
more
Head And Neck Nose:
hyposmia


Clinical features from OMIM:

607060

Human phenotypes related to Parkinson Disease 8, Autosomal Dominant:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 rigidity 32 HP:0002063
2 dementia 32 HP:0000726
3 bradykinesia 32 HP:0002067
4 hyposmia 32 HP:0004409
5 postural instability 32 HP:0002172
6 substantia nigra gliosis 32 HP:0011960
7 lewy bodies 32 HP:0100315
8 parkinsonism with favorable response to dopaminergic medication 32 HP:0002548
9 resting tremor 32 HP:0002322

UMLS symptoms related to Parkinson Disease 8, Autosomal Dominant:


bradykinesia, hyposmia, resting tremor, muscle rigidity

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Molecular Pathology and Neuronal Networks in LRRK2 Parkinson's Disease Not yet 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

Publications for Parkinson Disease 8, Autosomal Dominant

Variations for Parkinson Disease 8, Autosomal Dominant

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

75 (show all 16)
# 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.Tyr1699Cys VAR_024954 rs35801418
7 LRRK2 p.Arg1941His VAR_024956 rs77428810
8 LRRK2 p.Gly2019Ser VAR_024958 rs34637584
9 LRRK2 p.Ile2020Thr VAR_024959 rs35870237
10 LRRK2 p.Thr2356Ile VAR_024963 rs113511708
11 LRRK2 p.Met712Val VAR_054741 rs199566791
12 LRRK2 p.Arg1728His VAR_054744 rs145364431
13 LRRK2 p.Arg1728Leu VAR_054745 rs145364431
14 LRRK2 p.Thr2141Met VAR_054747 rs111691891
15 LRRK2 p.Arg2143His VAR_054748 rs201271001
16 LRRK2 p.Leu2466His VAR_054750 rs281865057

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

6 (show top 50) (show all 468)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRRK2 NM_198578.3(LRRK2): c.4321C> G (p.Arg1441Gly) single nucleotide variant Pathogenic rs33939927 GRCh37 Chromosome 12, 40704236: 40704236
2 LRRK2 NM_198578.3(LRRK2): c.4321C> G (p.Arg1441Gly) single nucleotide variant Pathogenic rs33939927 GRCh38 Chromosome 12, 40310434: 40310434
3 LRRK2 NM_198578.3(LRRK2): c.5096A> G (p.Tyr1699Cys) single nucleotide variant Pathogenic rs35801418 GRCh37 Chromosome 12, 40714916: 40714916
4 LRRK2 NM_198578.3(LRRK2): c.5096A> G (p.Tyr1699Cys) single nucleotide variant Pathogenic rs35801418 GRCh38 Chromosome 12, 40321114: 40321114
5 LRRK2 NM_198578.3(LRRK2): c.4321C> T (p.Arg1441Cys) single nucleotide variant Pathogenic rs33939927 GRCh37 Chromosome 12, 40704236: 40704236
6 LRRK2 NM_198578.3(LRRK2): c.4321C> T (p.Arg1441Cys) single nucleotide variant Pathogenic rs33939927 GRCh38 Chromosome 12, 40310434: 40310434
7 LRRK2 NM_198578.3(LRRK2): c.3364A> G (p.Ile1122Val) single nucleotide variant Pathogenic rs34805604 GRCh37 Chromosome 12, 40692927: 40692927
8 LRRK2 NM_198578.3(LRRK2): c.3364A> G (p.Ile1122Val) single nucleotide variant Pathogenic rs34805604 GRCh38 Chromosome 12, 40299125: 40299125
9 LRRK2 NM_198578.3(LRRK2): c.6055G> A (p.Gly2019Ser) single nucleotide variant Pathogenic rs34637584 GRCh37 Chromosome 12, 40734202: 40734202
10 LRRK2 NM_198578.3(LRRK2): c.6055G> A (p.Gly2019Ser) single nucleotide variant Pathogenic rs34637584 GRCh38 Chromosome 12, 40340400: 40340400
11 LRRK2 NM_198578.3(LRRK2): c.6059T> C (p.Ile2020Thr) single nucleotide variant Pathogenic rs35870237 GRCh37 Chromosome 12, 40734206: 40734206
12 LRRK2 NM_198578.3(LRRK2): c.6059T> C (p.Ile2020Thr) single nucleotide variant Pathogenic rs35870237 GRCh38 Chromosome 12, 40340404: 40340404
13 LRRK2 NM_198578.3(LRRK2): c.4322G> A (p.Arg1441His) single nucleotide variant Pathogenic rs34995376 GRCh37 Chromosome 12, 40704237: 40704237
14 LRRK2 NM_198578.3(LRRK2): c.4322G> A (p.Arg1441His) single nucleotide variant Pathogenic rs34995376 GRCh38 Chromosome 12, 40310435: 40310435
15 LRRK2 NM_198578.3(LRRK2): c.7153G> A (p.Gly2385Arg) single nucleotide variant Likely benign rs34778348 GRCh37 Chromosome 12, 40757328: 40757328
16 LRRK2 NM_198578.3(LRRK2): c.7153G> A (p.Gly2385Arg) single nucleotide variant Likely benign rs34778348 GRCh38 Chromosome 12, 40363526: 40363526
17 LRRK2 NM_198578.3(LRRK2): c.5457T> C (p.Gly1819=) single nucleotide variant Benign rs10878371 GRCh37 Chromosome 12, 40716260: 40716260
18 LRRK2 NM_198578.3(LRRK2): c.5457T> C (p.Gly1819=) single nucleotide variant Benign rs10878371 GRCh38 Chromosome 12, 40322458: 40322458
19 LRRK2 NM_198578.3(LRRK2): c.1000G> A (p.Glu334Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs78501232 GRCh37 Chromosome 12, 40645075: 40645075
20 LRRK2 NM_198578.3(LRRK2): c.1000G> A (p.Glu334Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs78501232 GRCh38 Chromosome 12, 40251273: 40251273
21 LRRK2 NM_198578.3(LRRK2): c.1088A> G (p.Asn363Ser) single nucleotide variant Uncertain significance rs72546336 GRCh37 Chromosome 12, 40645163: 40645163
22 LRRK2 NM_198578.3(LRRK2): c.1088A> G (p.Asn363Ser) single nucleotide variant Uncertain significance rs72546336 GRCh38 Chromosome 12, 40251361: 40251361
23 LRRK2 NM_198578.3(LRRK2): c.1096G> A (p.Val366Met) single nucleotide variant Uncertain significance rs113065049 GRCh37 Chromosome 12, 40645171: 40645171
24 LRRK2 NM_198578.3(LRRK2): c.1096G> A (p.Val366Met) single nucleotide variant Uncertain significance rs113065049 GRCh38 Chromosome 12, 40251369: 40251369
25 LRRK2 NM_198578.3(LRRK2): c.1256C> T (p.Ala419Val) single nucleotide variant Pathogenic rs34594498 GRCh37 Chromosome 12, 40646786: 40646786
26 LRRK2 NM_198578.3(LRRK2): c.1256C> T (p.Ala419Val) single nucleotide variant Pathogenic rs34594498 GRCh38 Chromosome 12, 40252984: 40252984
27 LRRK2 NM_198578.3(LRRK2): c.1383T= (p.Ser461=) single nucleotide variant Uncertain significance rs35847451 GRCh37 Chromosome 12, 40651144: 40651144
28 LRRK2 NM_198578.3(LRRK2): c.1383T= (p.Ser461=) single nucleotide variant Uncertain significance rs35847451 GRCh38 Chromosome 12, 40257342: 40257342
29 LRRK2 NM_198578.3(LRRK2): c.1464A> T (p.Leu488=) single nucleotide variant Uncertain significance rs75711334 GRCh37 Chromosome 12, 40653327: 40653327
30 LRRK2 NM_198578.3(LRRK2): c.1464A> T (p.Leu488=) single nucleotide variant Uncertain significance rs75711334 GRCh38 Chromosome 12, 40259525: 40259525
31 LRRK2 NM_198578.3(LRRK2): c.149A> G (p.His50Arg) single nucleotide variant Benign rs2256408 GRCh37 Chromosome 12, 40619082: 40619082
32 LRRK2 NM_198578.3(LRRK2): c.149A> G (p.His50Arg) single nucleotide variant Benign rs2256408 GRCh38 Chromosome 12, 40225280: 40225280
33 LRRK2 NM_198578.3(LRRK2): c.1517G> A (p.Arg506Gln) single nucleotide variant Uncertain significance rs202009639 GRCh37 Chromosome 12, 40653380: 40653380
34 LRRK2 NM_198578.3(LRRK2): c.1517G> A (p.Arg506Gln) single nucleotide variant Uncertain significance rs202009639 GRCh38 Chromosome 12, 40259578: 40259578
35 LRRK2 NM_198578.3(LRRK2): c.155C> T (p.Ser52Phe) single nucleotide variant Uncertain significance rs72546335 GRCh37 Chromosome 12, 40619360: 40619360
36 LRRK2 NM_198578.3(LRRK2): c.155C> T (p.Ser52Phe) single nucleotide variant Uncertain significance rs72546335 GRCh38 Chromosome 12, 40225558: 40225558
37 LRRK2 NM_198578.3(LRRK2): c.1561A> G (p.Arg521Gly) single nucleotide variant Uncertain significance rs35328937 GRCh37 Chromosome 12, 40657608: 40657608
38 LRRK2 NM_198578.3(LRRK2): c.1561A> G (p.Arg521Gly) single nucleotide variant Uncertain significance rs35328937 GRCh38 Chromosome 12, 40263806: 40263806
39 LRRK2 NM_198578.3(LRRK2): c.1630A> G (p.Lys544Glu) single nucleotide variant Uncertain significance rs79996249 GRCh37 Chromosome 12, 40657677: 40657677
40 LRRK2 NM_198578.3(LRRK2): c.1630A> G (p.Lys544Glu) single nucleotide variant Uncertain significance rs79996249 GRCh38 Chromosome 12, 40263875: 40263875
41 LRRK2 NM_198578.3(LRRK2): c.1653C> G (p.Asn551Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs7308720 GRCh37 Chromosome 12, 40657700: 40657700
42 LRRK2 NM_198578.3(LRRK2): c.1653C> G (p.Asn551Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs7308720 GRCh38 Chromosome 12, 40263898: 40263898
43 LRRK2 NM_198578.3(LRRK2): c.1674G= (p.Gly558=) single nucleotide variant Uncertain significance rs77424631 GRCh37 Chromosome 12, 40668402: 40668402
44 LRRK2 NM_198578.3(LRRK2): c.1674G= (p.Gly558=) single nucleotide variant Uncertain significance rs77424631 GRCh38 Chromosome 12, 40274600: 40274600
45 LRRK2 NM_198578.3(LRRK2): c.1847A> G (p.Lys616Arg) single nucleotide variant Uncertain significance rs281865042 GRCh37 Chromosome 12, 40668701: 40668701
46 LRRK2 NM_198578.3(LRRK2): c.1847A> G (p.Lys616Arg) single nucleotide variant Uncertain significance rs281865042 GRCh38 Chromosome 12, 40274899: 40274899
47 LRRK2 NM_198578.3(LRRK2): c.1987T> C (p.Ser663Pro) single nucleotide variant Uncertain significance rs78154388 GRCh37 Chromosome 12, 40671735: 40671735
48 LRRK2 NM_198578.3(LRRK2): c.1987T> C (p.Ser663Pro) single nucleotide variant Uncertain significance rs78154388 GRCh38 Chromosome 12, 40277933: 40277933
49 LRRK2 NM_198578.3(LRRK2): c.2022A> C (p.Val674=) single nucleotide variant Benign rs72546319 GRCh37 Chromosome 12, 40671770: 40671770
50 LRRK2 NM_198578.3(LRRK2): c.2022A> C (p.Val674=) single nucleotide variant Benign rs72546319 GRCh38 Chromosome 12, 40277968: 40277968

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

GO Terms for Parkinson Disease 8, Autosomal Dominant

Sources for Parkinson Disease 8, Autosomal Dominant

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