MCID: PRK099
MIFTS: 21

Parkinson Disease 18, Autosomal Dominant

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Metabolic 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 75 29 13 6 73
Parkinson Disease 18, Autosomal Dominant, Susceptibility to 57 75
Park18 57 75
Parkinson Disease 18 Autosomal Dominant 75
Parkinson Disease, Type 18 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Parkinson Disease 18, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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 muscle rigidity, bradykinesia and resting tremor. 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 parkinsonism and rigidity

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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

614251

Human phenotypes related to Parkinson Disease 18, Autosomal Dominant:

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

UMLS symptoms related to Parkinson Disease 18, Autosomal Dominant:


muscle rigidity, bradykinesia, resting tremor

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

Variations for Parkinson Disease 18, Autosomal Dominant

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

75
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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