PARKINSON DISEASE 17

General Information (adopted from Orphanet):

Synonyms, Signs: PARK17
Number of Symptoms 10
OrphanetNr:
OMIM Id: 614203
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:0100660) Dyskinesia 19 / 7739
2
(HPO:0002172) Postural instability 22 / 7739
3
(HPO:0001300) Parkinsonism 75 / 7739
4
(HPO:0002304) Akinesia 18 / 7739
5
(HPO:0002067) Bradykinesia 62 / 7739
6
(HPO:0002322) Resting tremor 14 / 7739
7
(HPO:0002063) Rigidity 92 / 7739
8
(HPO:0001337) Tremor 200 / 7739
9
(HPO:0003394) Muscle cramps 106 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008).

For a general phenotypic description and a discussion of genetic heterogeneity ...

Clinical Description OMIM Wider et al. (2008) reported a large family of Swiss origin with autosomal dominant levodopa-responsive Parkinson disease. Age at onset ranged from 42 to 64 years (mean of 52), and most presented with resting tremor. Other features included ...
Molecular genetics OMIM By exome sequencing of affected members of the Swiss family with Parkinson disease reported by Wider et al. (2008), Vilarino-Guell et al. (2011) identified a heterozygous mutation in the VPS35 gene (D620N; 601501.0001). Subsequent sequencing of this gene ...
Population genetics OMIM By specific screening for the D620N mutation (601501.0001) among Japanese patients with Parkinson disease, Ando et al. (2012) identified the heterozygous mutation in 3 (1.0%) of 330 patients with autosomal dominant PD and in 1 (0.23%) of 433 ...