PARK18
MCID: PRK099
MIFTS: 24

Parkinson Disease 18, Autosomal Dominant (PARK18)

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

Aliases & Classifications for Parkinson Disease 18, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 18, Autosomal Dominant:

Name: Parkinson Disease 18, Autosomal Dominant 57
Parkinson Disease 18 57 72 29 13 6 70
Parkinson Disease 18, Autosomal Dominant, Susceptibility to 57 72
Park18 57 72
Parkinson Disease 18 Autosomal Dominant 72
Parkinson Disease, Type 18 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
insidious onset
late-adult onset (range 50 to 80 years)
long duration
favorable response to l-dopa treatment

Inheritance:
autosomal dominant


HPO:

31
parkinson disease 18, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course insidious onset


Classifications:



External Ids:

OMIM® 57 614251
OMIM Phenotypic Series 57 PS168600
MeSH 44 D010300
MedGen 41 C3280271
UMLS 70 C3280271

Summaries for Parkinson Disease 18, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 Parkinson disease 18: An autosomal dominant, late-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.

MalaCards based summary : Parkinson Disease 18, Autosomal Dominant, also known as parkinson disease 18, is related to parkinson disease, late-onset and constipation, and has symptoms including bradykinesia, resting tremor and muscle rigidity. An important gene associated with Parkinson Disease 18, Autosomal Dominant is EIF4G1 (Eukaryotic Translation Initiation Factor 4 Gamma 1). Related phenotypes are rigidity and parkinsonism

OMIM® : 57 Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Chartier-Harlin et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. (614251) (Updated 05-Apr-2021)

Related Diseases for Parkinson Disease 18, Autosomal Dominant

Symptoms & Phenotypes for Parkinson Disease 18, Autosomal Dominant

Human phenotypes related to Parkinson Disease 18, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 rigidity 31 HP:0002063
2 parkinsonism 31 HP:0001300
3 bradykinesia 31 HP:0002067
4 resting tremor 31 HP:0002322
5 lewy bodies 31 HP:0100315

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
rigidity
parkinsonism
bradykinesia
resting tremor
lewy bodies

Clinical features from OMIM®:

614251 (Updated 05-Apr-2021)

UMLS symptoms related to Parkinson Disease 18, Autosomal Dominant:


bradykinesia; resting tremor; muscle rigidity

Drugs & Therapeutics for Parkinson Disease 18, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Parkinson Disease 18, Autosomal Dominant

Genetic Tests for Parkinson Disease 18, Autosomal Dominant

Genetic tests related to Parkinson Disease 18, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Parkinson Disease 18 29 EIF4G1

Anatomical Context for Parkinson Disease 18, Autosomal Dominant

Publications for Parkinson Disease 18, Autosomal Dominant

Articles related to Parkinson Disease 18, Autosomal Dominant:

# Title Authors PMID Year
1
EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts. 6 57
25368108 2015
2
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. 57 6
23408866 2013
3
Translation initiator EIF4G1 mutations in familial Parkinson disease. 6 57
21907011 2011
4
Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease. 57
21425343 2011
5
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. 57
20711177 2010
6
A pilot clinical trial of creatine and minocycline in early Parkinson disease: 18-month results. 61
18520981 2008
7
Gastrointestinal symptoms in Parkinson disease: 18-month follow-up study. 61
8093549 1993

Variations for Parkinson Disease 18, Autosomal Dominant

ClinVar genetic disease variations for Parkinson Disease 18, Autosomal Dominant:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EIF4G1 NM_198241.3(EIF4G1):c.3614G>A (p.Arg1205His) SNV risk factor 30072 rs112176450 GRCh37: 3:184045189-184045189
GRCh38: 3:184327401-184327401
2 EIF4G1 NM_198241.3(EIF4G1):c.1505C>T (p.Ala502Val) SNV risk factor 30073 rs111290936 GRCh37: 3:184039877-184039877
GRCh38: 3:184322089-184322089
3 EIF4G1 NM_198241.3(EIF4G1):c.3824T>A (p.Leu1275His) SNV Uncertain significance 1030449 GRCh37: 3:184045661-184045661
GRCh38: 3:184327873-184327873
4 EIF4G1 NM_198241.3(EIF4G1):c.3325+16C>T SNV Benign 518345 rs2293605 GRCh37: 3:184044433-184044433
GRCh38: 3:184326645-184326645
5 EIF4G1 NM_198241.3(EIF4G1):c.3953+9A>G SNV Benign 518346 rs939317 GRCh37: 3:184045799-184045799
GRCh38: 3:184328011-184328011
6 EIF4G1 NM_198241.3(EIF4G1):c.1294A>G (p.Met432Val) SNV Benign 518344 rs2178403 GRCh37: 3:184039666-184039666
GRCh38: 3:184321878-184321878

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 18, Autosomal Dominant:

72
# Symbol AA change Variation ID SNP ID
1 EIF4G1 p.Ala502Val VAR_066573 rs111290936
2 EIF4G1 p.Arg1205His VAR_066579 rs112176450

Expression for Parkinson Disease 18, Autosomal Dominant

Search GEO for disease gene expression data for Parkinson Disease 18, Autosomal Dominant.

Pathways for Parkinson Disease 18, Autosomal Dominant

GO Terms for Parkinson Disease 18, Autosomal Dominant

Sources for Parkinson Disease 18, 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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