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 58

Characteristics:

Orphanet epidemiological data:

58
atypical juvenile parkinsonism
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Atypical Juvenile Parkinsonism

MalaCards based summary : Atypical Juvenile Parkinsonism is related to spastic paraplegia 15, autosomal recessive and spastic paraplegia 15. An important gene associated with Atypical Juvenile Parkinsonism is DNAJC6 (DnaJ Heat Shock Protein Family (Hsp40) Member C6), and among its related pathways/superpathways is Clathrin-mediated endocytosis. Affiliated tissues include brain, and related phenotypes are dystonia and rigidity

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 spastic paraplegia 15, autosomal recessive 9.9
2 spastic paraplegia 15 9.9
3 parkinson disease 21 9.7 SYNJ1 DNAJC6
4 cataract 8, multiple types 9.5 SYNJ1 DNAJC6
5 parkinson disease 2, autosomal recessive juvenile 9.4 PODXL DNAJC6
6 parkinson disease, late-onset 8.8 SYNJ1 PODXL DNAJC6

Graphical network of the top 20 diseases related to Atypical Juvenile Parkinsonism:



Diseases related to Atypical Juvenile Parkinsonism

Symptoms & Phenotypes for Atypical Juvenile Parkinsonism

Human phenotypes related to Atypical Juvenile Parkinsonism:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001332
2 rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002063
3 inability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0002540
4 postural instability 58 31 hallmark (90%) Very frequent (99-80%) HP:0002172
5 bradykinesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002067
6 slowed slurred speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0007164
7 hypomimic face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000338
8 resting tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0002322
9 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
10 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
11 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
12 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
13 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
14 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
15 weak voice 58 31 frequent (33%) Frequent (79-30%) HP:0001621
16 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
17 brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012444
18 akinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002304
19 short stepped shuffling gait 58 31 frequent (33%) Frequent (79-30%) HP:0007311
20 leg muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0008969
21 seizure 31 frequent (33%) HP:0001250
22 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
23 anarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002425
24 seizures 58 Frequent (79-30%)
25 abnormality of movement 58 Frequent (79-30%)
26 involuntary movements 58 Frequent (79-30%)
27 abnormality of nervous system physiology 58 Frequent (79-30%)
28 shuffling gait 58 Occasional (29-5%)

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:

40
Brain

Publications for Atypical Juvenile Parkinsonism

Articles related to Atypical Juvenile Parkinsonism:

(show all 11)
# Title Authors PMID Year
1
Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism. 6
27496670 2016
2
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease. 6
26703368 2016
3
Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain. 6
24220513 2014
4
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. 6
23804563 2013
5
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. 6
23804577 2013
6
DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. 6
23211418 2013
7
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. 6
22563501 2012
8
New Genes Causing Hereditary Parkinson's Disease or Parkinsonism. 61
28733970 2017
9
Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease. 61
24420862 2014
10
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. 61
20853184 2011
11
Atypical juvenile parkinsonism in a consanguineous SPG15 family. 61
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 SYNJ1 DNAJC6

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 SYNJ1 DNAJC6

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 SYNJ1 DNAJC6
2 synaptic vesicle uncoating GO:0016191 8.62 SYNJ1 DNAJC6

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 SYNJ1 DNAJC6

Sources for Atypical Juvenile Parkinsonism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....