MCID: ATY034
MIFTS: 29

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 parkinsonism. 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 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 10.1
2 parkinsonism 10.1
3 spastic paraplegia 15 10.1
4 parkinson disease 21 9.5 SYNJ1 DNAJC6
5 parkinson disease 2, autosomal recessive juvenile 9.3 SYNJ1 PODXL DNAJC6
6 parkinson disease, late-onset 9.1 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 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
12 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
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 15)
# Title Authors PMID Year
1
Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome. 6
27869329 2017
2
Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism. 6
27496670 2016
3
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. 6
27435091 2016
4
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease. 6
26703368 2016
5
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. 6
25316601 2015
6
Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain. 6
24220513 2014
7
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. 6
23804577 2013
8
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. 6
23804563 2013
9
DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. 6
23211418 2013
10
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. 6
22563501 2012
11
SPG15: A Rare Correlation with Atypical Juvenile Parkinsonism Responsive to Levodopa. 61
33033739 2020
12
New Genes Causing Hereditary Parkinson's Disease or Parkinsonism. 61
28733970 2017
13
Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease. 61
24420862 2014
14
Atypical juvenile parkinsonism in a consanguineous SPG15 family. 61
21462267 2011
15
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. 61
20853184 2011

Variations for Atypical Juvenile Parkinsonism

ClinVar genetic disease variations for Atypical Juvenile Parkinsonism:

6 (show top 50) (show all 459)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYNJ1 NM_203446.2(SYNJ1):c.773G>A (p.Arg258Gln) SNV Pathogenic 88844 rs398122403 GRCh37: 21:34067416-34067416
GRCh38: 21:32695106-32695106
2 SYNJ1 NM_003895.3(SYNJ1):c.1376G>C (p.Arg459Pro) SNV Pathogenic 393356 rs1060499619 GRCh37: 21:34053900-34053900
GRCh38: 21:32681590-32681590
3 SYNJ1 NM_203446.2(SYNJ1):c.512G>A (p.Trp171Ter) SNV Pathogenic 549503 rs1555907463 GRCh37: 21:34072232-34072232
GRCh38: 21:32699922-32699922
4 DNAJC6 NM_001256864.2(DNAJC6):c.801-2A>G SNV Pathogenic 88854 rs398122404 GRCh37: 1:65851393-65851393
GRCh38: 1:65385710-65385710
5 DNAJC6 NM_001256864.2(DNAJC6):c.2410C>T (p.Gln804Ter) SNV Pathogenic 88855 rs398122405 GRCh37: 1:65871735-65871735
GRCh38: 1:65406052-65406052
6 DNAJC6 NM_001256864.2(DNAJC6):c.2536C>T (p.Gln846Ter) SNV Pathogenic 265964 rs886039854 GRCh37: 1:65874368-65874368
GRCh38: 1:65408685-65408685
7 SYNJ1 NM_003895.3(SYNJ1):c.24G>A (p.Trp8Ter) SNV Pathogenic 575322 rs1569147057 GRCh37: 21:34100328-34100328
GRCh38: 21:32728017-32728017
8 SYNJ1 NM_203446.3(SYNJ1):c.2793_2797del (p.Arg932fs) Deletion Pathogenic 570902 rs778394516 GRCh37: 21:34028997-34029001
GRCh38: 21:32656687-32656691
9 SYNJ1 NC_000021.9:g.(?_32727926)_(32728060_?)del Deletion Pathogenic 833242 GRCh37: 21:34100237-34100371
GRCh38:
10 SYNJ1 NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs) Deletion Pathogenic 848199 GRCh37: 21:34018824-34018824
GRCh38: 21:32646514-32646514
11 SYNJ1 NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer) Deletion Pathogenic 950404 GRCh37: 21:34015741-34015741
GRCh38: 21:32643431-32643431
12 DNAJC6 NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter) SNV Pathogenic 976692 GRCh37: 1:65851582-65851582
GRCh38: 1:65385899-65385899
13 DNAJC6 NM_001256864.2(DNAJC6):c.454C>T (p.Arg152Ter) SNV Pathogenic 219301 rs864622011 GRCh37: 1:65831790-65831790
GRCh38: 1:65366107-65366107
14 SYNJ1 NM_203446.3(SYNJ1):c.789+1G>A SNV Likely pathogenic 962464 GRCh37: 21:34066537-34066537
GRCh38: 21:32694227-32694227
15 SYNJ1 NM_003895.3(SYNJ1):c.1318-2A>G SNV Likely pathogenic 570738 rs1569086116 GRCh37: 21:34053960-34053960
GRCh38: 21:32681650-32681650
16 SYNJ1 NM_203446.3(SYNJ1):c.2254del (p.Asp752fs) Deletion Likely pathogenic 992917 GRCh37: 21:34037273-34037273
GRCh38: 21:32664963-32664963
17 SYNJ1 NM_203446.3(SYNJ1):c.577T>C (p.Tyr193His) SNV Uncertain significance 992918 GRCh37: 21:34067495-34067495
GRCh38: 21:32695185-32695185
18 SYNJ1 NM_003895.3(SYNJ1):c.3806C>T (p.Thr1269Met) SNV Uncertain significance 478348 rs752805765 GRCh37: 21:34011989-34011989
GRCh38: 21:32639679-32639679
19 SYNJ1 NM_003895.3(SYNJ1):c.3808T>C (p.Ser1270Pro) SNV Uncertain significance 478349 rs767695759 GRCh37: 21:34011987-34011987
GRCh38: 21:32639677-32639677
20 SYNJ1 NM_003895.3(SYNJ1):c.76A>G (p.Arg26Gly) SNV Uncertain significance 544546 rs988950141 GRCh37: 21:34100276-34100276
GRCh38: 21:32727965-32727965
21 SYNJ1 NM_003895.3(SYNJ1):c.3954T>A (p.Asn1318Lys) SNV Uncertain significance 544567 rs1555888329 GRCh37: 21:34011296-34011296
GRCh38: 21:32638986-32638986
22 SYNJ1 NM_001160306.2(SYNJ1):c.3376+658C>T SNV Uncertain significance 544570 rs569046864 GRCh37: 21:34017298-34017298
GRCh38: 21:32644988-32644988
23 SYNJ1 NM_003895.3(SYNJ1):c.3332C>A (p.Pro1111Gln) SNV Uncertain significance 565611 rs771524798 GRCh37: 21:34018735-34018735
GRCh38: 21:32646425-32646425
24 SYNJ1 NM_003895.3(SYNJ1):c.1625G>A (p.Arg542His) SNV Uncertain significance 574661 rs756697570 GRCh37: 21:34050957-34050957
GRCh38: 21:32678647-32678647
25 SYNJ1 NM_003895.3(SYNJ1):c.3698C>G (p.Ala1233Gly) SNV Uncertain significance 642561 rs779766895 GRCh37: 21:34014213-34014213
GRCh38: 21:32641903-32641903
26 SYNJ1 NM_003895.3(SYNJ1):c.2684C>A (p.Thr895Asn) SNV Uncertain significance 644595 rs1191504880 GRCh37: 21:34029325-34029325
GRCh38: 21:32657015-32657015
27 SYNJ1 NM_003895.3(SYNJ1):c.700G>A (p.Ala234Thr) SNV Uncertain significance 653212 rs774367309 GRCh37: 21:34067489-34067489
GRCh38: 21:32695179-32695179
28 SYNJ1 NM_003895.3(SYNJ1):c.3940G>A (p.Gly1314Ser) SNV Uncertain significance 658700 rs1601231173 GRCh37: 21:34011310-34011310
GRCh38: 21:32639000-32639000
29 SYNJ1 NM_203446.2(SYNJ1):c.*127G>C SNV Uncertain significance 662385 rs1342453394 GRCh37: 21:34003988-34003988
GRCh38: 21:32631678-32631678
30 SYNJ1 NM_003895.3(SYNJ1):c.294A>G (p.Ala98=) SNV Uncertain significance 664700 rs749212329 GRCh37: 21:34074305-34074305
GRCh38: 21:32701995-32701995
31 DNAJC6 NM_001256864.2(DNAJC6):c.170G>T (p.Arg57Leu) SNV Uncertain significance 664983 rs747115530 GRCh37: 1:65775598-65775598
GRCh38: 1:65309915-65309915
32 SYNJ1 NM_203446.3(SYNJ1):c.*576_*584del Deletion Uncertain significance 836370 GRCh37: 21:34003531-34003539
GRCh38: 21:32631221-32631229
33 SYNJ1 NM_203446.3(SYNJ1):c.254T>A (p.Met85Lys) SNV Uncertain significance 839553 GRCh37: 21:34072373-34072373
GRCh38: 21:32700063-32700063
34 SYNJ1 NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys) SNV Uncertain significance 843574 GRCh37: 21:34014274-34014274
GRCh38: 21:32641964-32641964
35 SYNJ1 NM_203446.3(SYNJ1):c.1126A>G (p.Ser376Gly) SNV Uncertain significance 844134 GRCh37: 21:34056422-34056422
GRCh38: 21:32684112-32684112
36 SYNJ1 NM_203446.3(SYNJ1):c.3547C>G (p.Leu1183Val) SNV Uncertain significance 849387 GRCh37: 21:34014247-34014247
GRCh38: 21:32641937-32641937
37 SYNJ1 NM_203446.3(SYNJ1):c.3584G>C (p.Arg1195Thr) SNV Uncertain significance 850502 GRCh37: 21:34014210-34014210
GRCh38: 21:32641900-32641900
38 SYNJ1 NM_203446.3(SYNJ1):c.220A>G (p.Met74Val) SNV Uncertain significance 852144 GRCh37: 21:34072407-34072407
GRCh38: 21:32700097-32700097
39 SYNJ1 NM_203446.3(SYNJ1):c.1835C>A (p.Ala612Asp) SNV Uncertain significance 854051 GRCh37: 21:34038860-34038860
GRCh38: 21:32666550-32666550
40 SYNJ1 NM_203446.3(SYNJ1):c.1349C>A (p.Ala450Glu) SNV Uncertain significance 854207 GRCh37: 21:34053810-34053810
GRCh38: 21:32681500-32681500
41 SYNJ1 NM_203446.3(SYNJ1):c.*807A>G SNV Uncertain significance 858730 GRCh37: 21:34003308-34003308
GRCh38: 21:32630998-32630998
42 DNAJC6 NM_001256864.2(DNAJC6):c.2468G>A (p.Arg823His) SNV Uncertain significance 861071 GRCh37: 1:65871793-65871793
GRCh38: 1:65406110-65406110
43 SYNJ1 NM_203446.3(SYNJ1):c.407G>A (p.Gly136Asp) SNV Uncertain significance 862230 GRCh37: 21:34072220-34072220
GRCh38: 21:32699910-32699910
44 DNAJC6 NM_001256864.2(DNAJC6):c.677C>T (p.Ala226Val) SNV Uncertain significance 935514 GRCh37: 1:65849886-65849886
GRCh38: 1:65384203-65384203
45 SYNJ1 NM_203446.3(SYNJ1):c.3364C>T (p.Pro1122Ser) SNV Uncertain significance 936291 GRCh37: 21:34017983-34017983
GRCh38: 21:32645673-32645673
46 SYNJ1 NM_203446.3(SYNJ1):c.1717G>C (p.Glu573Gln) SNV Uncertain significance 939879 GRCh37: 21:34045659-34045659
GRCh38: 21:32673349-32673349
47 SYNJ1 NM_203446.3(SYNJ1):c.592C>A (p.Gln198Lys) SNV Uncertain significance 940408 GRCh37: 21:34067480-34067480
GRCh38: 21:32695170-32695170
48 SYNJ1 NM_203446.3(SYNJ1):c.1961C>T (p.Ala654Val) SNV Uncertain significance 945015 GRCh37: 21:34038437-34038437
GRCh38: 21:32666127-32666127
49 SYNJ1 NM_203446.3(SYNJ1):c.3181G>C (p.Val1061Leu) SNV Uncertain significance 948127 GRCh37: 21:34018769-34018769
GRCh38: 21:32646459-32646459
50 SYNJ1 NM_203446.3(SYNJ1):c.3481C>G (p.Pro1161Ala) SNV Uncertain significance 950300 GRCh37: 21:34014441-34014441
GRCh38: 21:32642131-32642131

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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