PARK18
MCID: PRK099
MIFTS: 25

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 58
Parkinson Disease 18 58 76 30 13 6 74
Parkinson Disease 18, Autosomal Dominant, Susceptibility to 58 76
Park18 58 76
Parkinson Disease 18 Autosomal Dominant 76
Parkinson Disease, Type 18 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
parkinson disease 18, autosomal dominant:
Onset and clinical course insidious onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Parkinson Disease 18, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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 supranuclear palsy, progressive, 1, 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 : 58 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)

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:

33
# Description HPO Frequency HPO Source Accession
1 rigidity 33 HP:0002063
2 bradykinesia 33 HP:0002067
3 parkinsonism 33 HP:0001300
4 lewy bodies 33 HP:0100315
5 resting tremor 33 HP:0002322

Symptoms via clinical synopsis from OMIM:

58
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 30 EIF4G1

Anatomical Context for Parkinson Disease 18, Autosomal Dominant

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

42
Brain

Publications for Parkinson Disease 18, Autosomal Dominant

Articles related to Parkinson Disease 18, Autosomal Dominant:

# Title Authors Year
1
EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts. ( 25368108 )
2015
2
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. ( 23408866 )
2013
3
Translation initiator EIF4G1 mutations in familial Parkinson disease. ( 21907011 )
2011

Variations for Parkinson Disease 18, Autosomal Dominant

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

76
# Symbol AA change Variation ID SNP ID
1 EIF4G1 p.Ala502Val VAR_066573 rs111290936
2 EIF4G1 p.Arg1205His VAR_066579 rs112176450

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EIF4G1 NM_198241.2(EIF4G1): c.3614G> A (p.Arg1205His) single nucleotide variant risk factor rs112176450 GRCh37 Chromosome 3, 184045189: 184045189
2 EIF4G1 NM_198241.2(EIF4G1): c.3614G> A (p.Arg1205His) single nucleotide variant risk factor rs112176450 GRCh38 Chromosome 3, 184327401: 184327401
3 EIF4G1 NM_198241.2(EIF4G1): c.1505C> T (p.Ala502Val) single nucleotide variant risk factor rs111290936 GRCh37 Chromosome 3, 184039877: 184039877
4 EIF4G1 NM_198241.2(EIF4G1): c.1505C> T (p.Ala502Val) single nucleotide variant risk factor rs111290936 GRCh38 Chromosome 3, 184322089: 184322089
5 EIF4G1 NM_182917.4(EIF4G1): c.1294A> G (p.Met432Val) single nucleotide variant Benign rs2178403 GRCh37 Chromosome 3, 184039666: 184039666
6 EIF4G1 NM_182917.4(EIF4G1): c.1294A> G (p.Met432Val) single nucleotide variant Benign rs2178403 GRCh38 Chromosome 3, 184321878: 184321878
7 EIF4G1 NM_182917.4(EIF4G1): c.3328+16C> T single nucleotide variant Benign rs2293605 GRCh37 Chromosome 3, 184044433: 184044433
8 EIF4G1 NM_182917.4(EIF4G1): c.3328+16C> T single nucleotide variant Benign rs2293605 GRCh38 Chromosome 3, 184326645: 184326645
9 EIF4G1 NM_182917.4(EIF4G1): c.3956+9A> G single nucleotide variant Benign rs939317 GRCh37 Chromosome 3, 184045799: 184045799
10 EIF4G1 NM_182917.4(EIF4G1): c.3956+9A> G single nucleotide variant Benign rs939317 GRCh38 Chromosome 3, 184328011: 184328011

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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