MCID: PRK065
MIFTS: 25

Parkinson Disease 20, Early-Onset

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental 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 57 75 29 6 73
Park20 57 75
Parkinson Disease, Type 20, Early-Onset 40
Early-Onset Parkinson's Disease 20 12
Early-Onset Parkinson Disease 20 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


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 : 75 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 park20, is related to epileptic encephalopathy, early infantile, 53, and has symptoms including muscle rigidity, tremor and bradykinesia. An important gene associated with Parkinson Disease 20, Early-Onset is SYNJ1 (Synaptojanin 1). Affiliated tissues include eye and brain, and related phenotypes are dysarthria and tremor

OMIM : 57 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:

57
Neurologic Central Nervous System:
dysarthria
tremor
dystonia
rigidity
bradykinesia
more
Head And Neck Eyes:
eyelid apraxia
supranuclear gaze palsy
staring gaze
saccadic pursuit
jerky saccades

Head And Neck Mouth:
chin tremor

Abdomen Gastrointestinal:
dysphagia

Head And Neck Face:
masked facies


Clinical features from OMIM:

615530

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 tremor 32 HP:0001337
3 dystonia 32 HP:0001332
4 rigidity 32 HP:0002063
5 mental deterioration 32 occasional (7.5%) HP:0001268
6 bradykinesia 32 HP:0002067
7 shuffling gait 32 HP:0002362
8 parkinsonism 32 HP:0001300
9 eyelid apraxia 32 HP:0000658
10 postural instability 32 HP:0002172
11 supranuclear gaze palsy 32 HP:0000605
12 staring gaze 32 HP:0025401

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


muscle rigidity, tremor, bradykinesia

Drugs & Therapeutics for Parkinson Disease 20, Early-Onset

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Parkinson Disease 20, Early-Onset 29 SYNJ1

Anatomical Context for Parkinson Disease 20, Early-Onset

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

41
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:

75
# 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
(show top 50) (show all 191)
# 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.773G> A (p.Arg258Gln) single nucleotide variant Pathogenic rs398122403 GRCh38 Chromosome 21, 32695106: 32695106
3 SYNJ1 NM_203446.2(SYNJ1): c.1376G> C (p.Arg459Pro) single nucleotide variant Pathogenic rs1060499619 GRCh38 Chromosome 21, 32681590: 32681590
4 SYNJ1 NM_203446.2(SYNJ1): c.1376G> C (p.Arg459Pro) single nucleotide variant Pathogenic rs1060499619 GRCh37 Chromosome 21, 34053900: 34053900
5 SYNJ1 NM_003895.3(SYNJ1): c.160C> T (p.Pro54Ser) single nucleotide variant Benign/Likely benign rs61755328 GRCh37 Chromosome 21, 34099164: 34099164
6 SYNJ1 NM_003895.3(SYNJ1): c.160C> T (p.Pro54Ser) single nucleotide variant Benign/Likely benign rs61755328 GRCh38 Chromosome 21, 32726853: 32726853
7 SYNJ1 NC_000021.8: g.(?_33974153)_(34100371_?)dup duplication Uncertain significance GRCh37 Chromosome 21, 33974153: 34100371
8 SYNJ1 NM_003895.3(SYNJ1): c.4790C> T (p.Thr1597Met) single nucleotide variant Likely benign rs111516740 GRCh38 Chromosome 21, 32631044: 32631044
9 SYNJ1 NM_003895.3(SYNJ1): c.4790C> T (p.Thr1597Met) single nucleotide variant Likely benign rs111516740 GRCh37 Chromosome 21, 34003354: 34003354
10 SYNJ1 NM_003895.3(SYNJ1): c.4581G> A (p.Glu1527=) single nucleotide variant Likely benign rs146425050 GRCh38 Chromosome 21, 32631253: 32631253
11 SYNJ1 NM_003895.3(SYNJ1): c.4581G> A (p.Glu1527=) single nucleotide variant Likely benign rs146425050 GRCh37 Chromosome 21, 34003563: 34003563
12 SYNJ1 NM_003895.3(SYNJ1): c.3879C> T (p.Pro1293=) single nucleotide variant Likely benign rs201117151 GRCh38 Chromosome 21, 32639061: 32639061
13 SYNJ1 NM_003895.3(SYNJ1): c.3879C> T (p.Pro1293=) single nucleotide variant Likely benign rs201117151 GRCh37 Chromosome 21, 34011371: 34011371
14 SYNJ1 NM_003895.3(SYNJ1): c.3707C> T (p.Thr1236Met) single nucleotide variant Likely benign rs145937537 GRCh38 Chromosome 21, 32639778: 32639778
15 SYNJ1 NM_003895.3(SYNJ1): c.3707C> T (p.Thr1236Met) single nucleotide variant Likely benign rs145937537 GRCh37 Chromosome 21, 34012088: 34012088
16 SYNJ1 NM_003895.3(SYNJ1): c.3548G> A (p.Gly1183Asp) single nucleotide variant Uncertain significance rs142964720 GRCh38 Chromosome 21, 32643457: 32643457
17 SYNJ1 NM_003895.3(SYNJ1): c.3548G> A (p.Gly1183Asp) single nucleotide variant Uncertain significance rs142964720 GRCh37 Chromosome 21, 34015767: 34015767
18 SYNJ1 NM_003895.3(SYNJ1): c.2703C> T (p.Val901=) single nucleotide variant Likely benign rs771973400 GRCh37 Chromosome 21, 34029206: 34029206
19 SYNJ1 NM_003895.3(SYNJ1): c.2703C> T (p.Val901=) single nucleotide variant Likely benign rs771973400 GRCh38 Chromosome 21, 32656896: 32656896
20 SYNJ1 NM_003895.3(SYNJ1): c.2463G> A (p.Pro821=) single nucleotide variant Likely benign rs61753644 GRCh37 Chromosome 21, 34030141: 34030141
21 SYNJ1 NM_003895.3(SYNJ1): c.2463G> A (p.Pro821=) single nucleotide variant Likely benign rs61753644 GRCh38 Chromosome 21, 32657831: 32657831
22 SYNJ1 NM_003895.3(SYNJ1): c.1236-8G> T single nucleotide variant Benign rs138882423 GRCh37 Chromosome 21, 34056437: 34056437
23 SYNJ1 NM_003895.3(SYNJ1): c.1236-8G> T single nucleotide variant Benign rs138882423 GRCh38 Chromosome 21, 32684127: 32684127
24 SYNJ1 NM_003895.3(SYNJ1): c.1119C> T (p.Asp373=) single nucleotide variant Likely benign rs763601982 GRCh37 Chromosome 21, 34058174: 34058174
25 SYNJ1 NM_003895.3(SYNJ1): c.1119C> T (p.Asp373=) single nucleotide variant Likely benign rs763601982 GRCh38 Chromosome 21, 32685864: 32685864
26 SYNJ1 NM_003895.3(SYNJ1): c.960T> C (p.Ala320=) single nucleotide variant Likely benign rs372016074 GRCh37 Chromosome 21, 34060624: 34060624
27 SYNJ1 NM_003895.3(SYNJ1): c.960T> C (p.Ala320=) single nucleotide variant Likely benign rs372016074 GRCh38 Chromosome 21, 32688314: 32688314
28 SYNJ1 NM_003895.3(SYNJ1): c.4263G> T (p.Arg1421=) single nucleotide variant Likely benign rs777299829 GRCh38 Chromosome 21, 32631571: 32631571
29 SYNJ1 NM_003895.3(SYNJ1): c.4263G> T (p.Arg1421=) single nucleotide variant Likely benign rs777299829 GRCh37 Chromosome 21, 34003881: 34003881
30 SYNJ1 NM_003895.3(SYNJ1): c.4202C> T (p.Thr1401Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 21, 32631632: 32631632
31 SYNJ1 NM_003895.3(SYNJ1): c.4202C> T (p.Thr1401Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 21, 34003942: 34003942
32 SYNJ1 NM_003895.3(SYNJ1): c.3839T> C (p.Leu1280Pro) single nucleotide variant Uncertain significance rs548516848 GRCh38 Chromosome 21, 32639101: 32639101
33 SYNJ1 NM_003895.3(SYNJ1): c.3839T> C (p.Leu1280Pro) single nucleotide variant Uncertain significance rs548516848 GRCh37 Chromosome 21, 34011411: 34011411
34 SYNJ1 NM_003895.3(SYNJ1): c.3753G> A (p.Ala1251=) single nucleotide variant Likely benign rs576444776 GRCh38 Chromosome 21, 32639732: 32639732
35 SYNJ1 NM_003895.3(SYNJ1): c.3753G> A (p.Ala1251=) single nucleotide variant Likely benign rs576444776 GRCh37 Chromosome 21, 34012042: 34012042
36 SYNJ1 NM_003895.3(SYNJ1): c.3705G> A (p.Pro1235=) single nucleotide variant Uncertain significance GRCh38 Chromosome 21, 32641896: 32641896
37 SYNJ1 NM_003895.3(SYNJ1): c.3705G> A (p.Pro1235=) single nucleotide variant Uncertain significance GRCh37 Chromosome 21, 34014206: 34014206
38 SYNJ1 NM_003895.3(SYNJ1): c.3322A> G (p.Ser1108Gly) single nucleotide variant Likely benign rs149817769 GRCh38 Chromosome 21, 32646435: 32646435
39 SYNJ1 NM_003895.3(SYNJ1): c.3322A> G (p.Ser1108Gly) single nucleotide variant Likely benign rs149817769 GRCh37 Chromosome 21, 34018745: 34018745
40 SYNJ1 NM_003895.3(SYNJ1): c.2999A> G (p.Asn1000Ser) single nucleotide variant Uncertain significance rs754401787 GRCh37 Chromosome 21, 34022649: 34022649
41 SYNJ1 NM_003895.3(SYNJ1): c.2999A> G (p.Asn1000Ser) single nucleotide variant Uncertain significance rs754401787 GRCh38 Chromosome 21, 32650339: 32650339
42 SYNJ1 NM_003895.3(SYNJ1): c.1672A> G (p.Ser558Gly) single nucleotide variant Uncertain significance rs148901211 GRCh37 Chromosome 21, 34045821: 34045821
43 SYNJ1 NM_003895.3(SYNJ1): c.1672A> G (p.Ser558Gly) single nucleotide variant Uncertain significance rs148901211 GRCh38 Chromosome 21, 32673511: 32673511
44 SYNJ1 NM_003895.3(SYNJ1): c.1663G> A (p.Val555Ile) single nucleotide variant Benign rs113708828 GRCh37 Chromosome 21, 34045830: 34045830
45 SYNJ1 NM_003895.3(SYNJ1): c.1663G> A (p.Val555Ile) single nucleotide variant Benign rs113708828 GRCh38 Chromosome 21, 32673520: 32673520
46 SYNJ1 NM_003895.3(SYNJ1): c.1026A> G (p.Gly342=) single nucleotide variant Likely benign rs145522240 GRCh37 Chromosome 21, 34059327: 34059327
47 SYNJ1 NM_003895.3(SYNJ1): c.1026A> G (p.Gly342=) single nucleotide variant Likely benign rs145522240 GRCh38 Chromosome 21, 32687017: 32687017
48 SYNJ1 NM_003895.3(SYNJ1): c.4757C> T (p.Pro1586Leu) single nucleotide variant Likely benign rs2230767 GRCh38 Chromosome 21, 32631077: 32631077
49 SYNJ1 NM_003895.3(SYNJ1): c.4757C> T (p.Pro1586Leu) single nucleotide variant Likely benign rs2230767 GRCh37 Chromosome 21, 34003387: 34003387
50 SYNJ1 NM_003895.3(SYNJ1): c.4603T> A (p.Ser1535Thr) single nucleotide variant Uncertain significance rs138122167 GRCh38 Chromosome 21, 32631231: 32631231

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

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