MCID: PRK065
MIFTS: 25

Parkinson Disease 20, Early-Onset

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Parkinson Disease 20, Early-Onset

MalaCards integrated aliases for Parkinson Disease 20, Early-Onset:

Name: Parkinson Disease 20, Early-Onset 54 71 29 69
Early-Onset Parkinson Disease 20 12
Park20 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of parkinsonism in teens or early twenties
l-dopa-induced dyskinesias


HPO:

32
parkinson disease 20, early-onset:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Parkinson Disease 20, Early-Onset

UniProtKB/Swiss-Prot : 71 Parkinson disease 20, early-onset: An early-onset form of Parkinson disease, 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. PARK20 is characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia.

MalaCards based summary : Parkinson Disease 20, Early-Onset, also known as early-onset parkinson disease 20, is related to synj1-related parkinson disease, and has symptoms including dystonia, dysarthria and tremor. An important gene associated with Parkinson Disease 20, Early-Onset is SYNJ1 (Synaptojanin 1). Affiliated tissues include eye and brain.

OMIM : 54
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). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600). (615530)

Disease Ontology : 12 An early-onset Parkinson disease that has material basis in homozygous mutation in the SYNJ1 gene on chromosome 21q22.

Related Diseases for Parkinson Disease 20, Early-Onset

Symptoms & Phenotypes for Parkinson Disease 20, Early-Onset

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Gastroin testinal:
dysphagia

Head And Neck- Face:
masked facies

Head And Neck- Mouth:
chin tremor

Neurologic- Central Nervous System:
dystonia
dysarthria
tremor
masked facies
parkinsonism
more
Head And Neck- Eyes:
eyelid apraxia
supranuclear gaze palsy
saccadic pursuit
staring gaze
jerky saccades


Clinical features from OMIM:

615530

Human phenotypes related to Parkinson Disease 20, Early-Onset:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 dystonia 32 HP:0001332
2 dysarthria 32 HP:0001260
3 tremor 32 HP:0001337
4 parkinsonism 32 HP:0001300
5 bradykinesia 32 HP:0002067
6 rigidity 32 HP:0002063
7 shuffling gait 32 HP:0002362
8 postural instability 32 HP:0002172
9 eyelid apraxia 32 HP:0000658
10 supranuclear gaze palsy 32 HP:0000605
11 mental deterioration 32 occasional (7.5%) HP:0001268

UMLS symptoms related to Parkinson Disease 20, Early-Onset:


muscle rigidity, tremor, bradykinesia

Drugs & Therapeutics for Parkinson Disease 20, Early-Onset

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970

Search NIH Clinical Center for Parkinson Disease 20, Early-Onset

Genetic Tests for Parkinson Disease 20, Early-Onset

Genetic tests related to Parkinson Disease 20, Early-Onset:

id Genetic test Affiliating Genes
1 Parkinson Disease 20, Early-Onset 29

Anatomical Context for Parkinson Disease 20, Early-Onset

MalaCards organs/tissues related to Parkinson Disease 20, Early-Onset:

39
Eye, Brain

Publications for Parkinson Disease 20, Early-Onset

Variations for Parkinson Disease 20, Early-Onset

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 20, Early-Onset:

71
id Symbol AA change Variation ID SNP ID
1 SYNJ1 p.Arg219Gln VAR_070905
2 SYNJ1 p.Arg420Pro VAR_078803

ClinVar genetic disease variations for Parkinson Disease 20, Early-Onset:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SYNJ1 NM_203446.2(SYNJ1): c.773G> A (p.Arg258Gln) single nucleotide variant Pathogenic rs398122403 GRCh37 Chromosome 21, 34067416: 34067416
2 SYNJ1 NM_203446.2(SYNJ1): c.1376G> C (p.Arg459Pro) single nucleotide variant Pathogenic rs1060499619 GRCh38 Chromosome 21, 32681590: 32681590

Expression for Parkinson Disease 20, Early-Onset

Search GEO for disease gene expression data for Parkinson Disease 20, Early-Onset.

Pathways for Parkinson Disease 20, Early-Onset

GO Terms for Parkinson Disease 20, Early-Onset

Sources for Parkinson Disease 20, Early-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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