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 59

Characteristics:

Orphanet epidemiological data:

59
atypical juvenile parkinsonism
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 59  
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 brain atrophy and intellectual disability

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 9.7 DNAJC6 SYNJ1
2 parkinson disease 2, autosomal recessive juvenile 9.7 DNAJC6 PODXL
3 parkinson disease, late-onset 9.6 DNAJC6 PODXL SYNJ1

Symptoms & Phenotypes for Atypical Juvenile Parkinsonism

Human phenotypes related to Atypical Juvenile Parkinsonism:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brain atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012444
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
6 myoclonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001336
7 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
8 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
9 dystonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001332
10 inability to walk 59 32 hallmark (90%) Very frequent (99-80%) HP:0002540
11 rigidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002063
12 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
13 weak voice 59 32 frequent (33%) Frequent (79-30%) HP:0001621
14 bradykinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002067
15 anarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002425
16 leg muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0008969
17 hypomimic face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000338
18 postural instability 59 32 hallmark (90%) Very frequent (99-80%) HP:0002172
19 akinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002304
20 resting tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0002322
21 slowed slurred speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0007164
22 short stepped shuffling gait 59 32 frequent (33%) Frequent (79-30%) HP:0007311
23 abnormal pyramidal signs 59 Frequent (79-30%)
24 abnormality of movement 59 Frequent (79-30%)
25 involuntary movements 59 Frequent (79-30%)
26 shuffling gait 59 Occasional (29-5%)
27 abnormality of nervous system physiology 59 Frequent (79-30%)
28 abnormal pyramidal sign 32 frequent (33%) HP:0007256

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:

41
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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