PARKINSON DISEASE 20, EARLY-ONSET

General Information (adopted from Orphanet):

Synonyms, Signs: PARK20
Number of Symptoms 20
OrphanetNr:
OMIM Id: 615530
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000658) Eyelid apraxia 5 / 7739
2
(HPO:0000605) Supranuclear gaze palsy 16 / 7739
3
(HPO:0001268) Mental deterioration rare [HPO:skoehler] 88 / 7739
4
(HPO:0001332) Dystonia 197 / 7739
5
(HPO:0001300) Parkinsonism 75 / 7739
6
(HPO:0002362) Shuffling gait 13 / 7739
7
(HPO:0001260) Dysarthria 329 / 7739
8
(HPO:0002067) Bradykinesia 62 / 7739
9
(HPO:0001337) Tremor 200 / 7739
10
(HPO:0002063) Rigidity 92 / 7739
11
(HPO:0002172) Postural instability 22 / 7739
12
(HPO:0003676) Progressive disorder 148 / 7739
13
(OMIM) Brain MRI shows cortical atrophy 1 / 7739
14
(OMIM) Staring gaze 2 / 7739
15
(OMIM) Seizures, early onset 3 / 7739
16
(OMIM) Jerky saccades 1 / 7739
17
(MedDRA:10026863) Masked facies 8 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
(OMIM) Chin tremor 1 / 7739
20
(OMIM) Saccadic pursuit 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013). ...
Clinical Description OMIM Krebs et al. (2013) reported 2 Iranian sibs, born of consanguineous parents, with early-onset Parkinson disease. Both patients had onset of generalized tonic-clonic seizures in early childhood; the seizures were well controlled with phenobarbital, and both patients showed ...
Molecular genetics OMIM Independently and simultaneously, Krebs et al. (2013) and Quadri et al. (2013) identified the same homozygous missense mutation in the SYNJ1 gene (R258Q; 604297.0001) in affected sibs with autosomal recessive early-onset Parkinson disease from an Iranian and an ...