PARK18
MCID: PRK099
MIFTS: 23

Parkinson Disease 18, Autosomal Dominant (PARK18)

Categories: 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 74 29 13 6 72
Parkinson Disease 18, Autosomal Dominant, Susceptibility to 57 74
Park18 57 74
Parkinson Disease 18 Autosomal Dominant 74
Parkinson Disease, Type 18 40

Characteristics:

OMIM:

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

Inheritance:
autosomal dominant


HPO:

32
parkinson disease 18, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course insidious onset


Classifications:



External Ids:

MeSH 44 D010300
MedGen 42 C3280271
UMLS 72 C3280271

Summaries for Parkinson Disease 18, Autosomal Dominant

UniProtKB/Swiss-Prot : 74 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, is also known as parkinson disease 18, 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). Affiliated tissues include brain, and related phenotypes are rigidity and bradykinesia

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)

Symptoms & Phenotypes for Parkinson Disease 18, Autosomal Dominant

Human phenotypes related to Parkinson Disease 18, Autosomal Dominant:

32 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 rigidity 32 HP:0002063
2 bradykinesia 32 HP:0002067
3 parkinsonism 32 HP:0001300
4 lewy bodies 32 HP:0100315
5 resting tremor 32 HP:0002322

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
rigidity
bradykinesia
parkinsonism
lewy bodies
resting tremor

Clinical features from OMIM:

614251

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

MalaCards organs/tissues related to Parkinson Disease 18, Autosomal Dominant:

41
Brain

Publications for Parkinson Disease 18, Autosomal Dominant

Articles related to Parkinson Disease 18, Autosomal Dominant:

(showing 9, show less)
# Title Authors PMID Year
1
EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts. 8 71
25368108 2015
2
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. 8 71
23408866 2013
3
Translation initiator EIF4G1 mutations in familial Parkinson disease. 8 71
21907011 2011
4
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 71
23279440 2013
5
Replication of MAPT and SNCA, but not PARK16-18, as susceptibility genes for Parkinson's disease. 8
21425343 2011
6
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. 8
20711177 2010
7
Parkinson Disease Overview 71
20301402 2004
8
A pilot clinical trial of creatine and minocycline in early Parkinson disease: 18-month results. 38
18520981 2008
9
Gastrointestinal symptoms in Parkinson disease: 18-month follow-up study. 38
8093549 1993

Variations for Parkinson Disease 18, Autosomal Dominant

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

6 (showing 5, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EIF4G1 NM_198241.3(EIF4G1): c.3614G> A (p.Arg1205His) single nucleotide variant risk factor rs112176450 3:184045189-184045189 3:184327401-184327401
2 EIF4G1 NM_198241.3(EIF4G1): c.1505C> T (p.Ala502Val) single nucleotide variant risk factor rs111290936 3:184039877-184039877 3:184322089-184322089
3 EIF4G1 NM_198241.3(EIF4G1): c.1294A> G (p.Met432Val) single nucleotide variant Benign rs2178403 3:184039666-184039666 3:184321878-184321878
4 EIF4G1 NM_198241.3(EIF4G1): c.3325+16C> T single nucleotide variant Benign rs2293605 3:184044433-184044433 3:184326645-184326645
5 EIF4G1 NM_198241.3(EIF4G1): c.3953+9A> G single nucleotide variant Benign rs939317 3:184045799-184045799 3:184328011-184328011

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

74 (showing 2, show less)
# 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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