MCID: ATY034
MIFTS: 22

Atypical Juvenile Parkinsonism

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Atypical Juvenile Parkinsonism

MalaCards integrated aliases for Atypical Juvenile Parkinsonism:

Name: Atypical Juvenile Parkinsonism 60

Characteristics:

Orphanet epidemiological data:

60
atypical juvenile parkinsonism
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Atypical Juvenile Parkinsonism

MalaCards based summary : Atypical Juvenile Parkinsonism is related to early-onset parkinson's disease and parkinson disease 2, autosomal recessive juvenile. An important gene associated with Atypical Juvenile Parkinsonism is SYNJ1 (Synaptojanin 1), and among its related pathways/superpathways is Clathrin-mediated endocytosis. Affiliated tissues include brain, and related phenotypes are dystonia and inability to walk

Related Diseases for Atypical Juvenile Parkinsonism

Diseases related to Atypical Juvenile Parkinsonism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 early-onset parkinson's disease 9.6 DNAJC6 SYNJ1
2 parkinson disease 2, autosomal recessive juvenile 9.5 DNAJC6 PODXL
3 parkinson disease, late-onset 9.3 DNAJC6 PODXL SYNJ1

Symptoms & Phenotypes for Atypical Juvenile Parkinsonism

Human phenotypes related to Atypical Juvenile Parkinsonism:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dystonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001332
2 inability to walk 60 33 hallmark (90%) Very frequent (99-80%) HP:0002540
3 rigidity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002063
4 bradykinesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002067
5 hypomimic face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000338
6 postural instability 60 33 hallmark (90%) Very frequent (99-80%) HP:0002172
7 resting tremor 60 33 hallmark (90%) Very frequent (99-80%) HP:0002322
8 slowed slurred speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0007164
9 brain atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012444
10 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
11 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
12 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
13 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
14 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
15 pes cavus 60 33 frequent (33%) Frequent (79-30%) HP:0001761
16 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
17 weak voice 60 33 frequent (33%) Frequent (79-30%) HP:0001621
18 leg muscle stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0008969
19 akinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002304
20 short stepped shuffling gait 60 33 frequent (33%) Frequent (79-30%) HP:0007311
21 abnormal pyramidal sign 33 frequent (33%) HP:0007256
22 myoclonus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001336
23 anarthria 60 33 occasional (7.5%) Occasional (29-5%) HP:0002425
24 abnormal pyramidal signs 60 Frequent (79-30%)
25 abnormality of movement 60 Frequent (79-30%)
26 involuntary movements 60 Frequent (79-30%)
27 shuffling gait 60 Occasional (29-5%)
28 abnormality of nervous system physiology 60 Frequent (79-30%)

Drugs & Therapeutics for Atypical Juvenile Parkinsonism

Search Clinical Trials , NIH Clinical Center for Atypical Juvenile Parkinsonism

Genetic Tests for Atypical Juvenile Parkinsonism

Anatomical Context for Atypical Juvenile Parkinsonism

MalaCards organs/tissues related to Atypical Juvenile Parkinsonism:

42
Brain

Publications for Atypical Juvenile Parkinsonism

Articles related to Atypical Juvenile Parkinsonism:

# Title Authors Year
1
Atypical juvenile parkinsonism in a consanguineous SPG15 family. ( 21462267 )
2011

Variations for Atypical Juvenile Parkinsonism

Expression for Atypical Juvenile Parkinsonism

Search GEO for disease gene expression data for Atypical Juvenile Parkinsonism.

Pathways for Atypical Juvenile Parkinsonism

Pathways related to Atypical Juvenile Parkinsonism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11 DNAJC6 SYNJ1

GO Terms for Atypical Juvenile Parkinsonism

Cellular components related to Atypical Juvenile Parkinsonism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 presynapse GO:0098793 8.62 DNAJC6 SYNJ1

Biological processes related to Atypical Juvenile Parkinsonism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 8.96 DNAJC6 SYNJ1
2 synaptic vesicle uncoating GO:0016191 8.62 DNAJC6 SYNJ1

Molecular functions related to Atypical Juvenile Parkinsonism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SH3 domain binding GO:0017124 8.62 DNAJC6 SYNJ1

Sources for Atypical Juvenile Parkinsonism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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