PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO

General Information (adopted from Orphanet):

Synonyms, Signs: PARK18
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614251
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002063) Rigidity 92 / 7739
2
(HPO:0002322) Resting tremor 14 / 7739
3
(HPO:0001300) Parkinsonism 75 / 7739
4
(HPO:0002067) Bradykinesia 62 / 7739
5
(HPO:0003587) Insidious onset 11 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(HPO:0100315) Lewy bodies 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...

Clinical Description OMIM Chartier-Harlin et al. (2011) reported a large French family with classic late-onset Parkinson disease. The mean age at disease onset was 64 years, but there was a broad range (50 to 80 years). Affected individuals had insidious onset ...
Molecular genetics OMIM In affected members of a large French family with late-onset Parkinson disease, Chartier-Harlin et al. (2011) identified a heterozygous mutation in the EIF4G1 gene (R1205H; 600495.0001) by use of genomewide linkage analysis followed by direct sequencing. The EIF4G1 ...