PARK21
MCID: PRK070
MIFTS: 36

Parkinson Disease 21 (PARK21)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Parkinson Disease 21

MalaCards integrated aliases for Parkinson Disease 21:

Name: Parkinson Disease 21 57 12 72 29 6
Park21 57 12 72
Parkinson's Disease 21 12 15
Parkinson Disease, Type 21 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
late-adult onset
younger onset rarely reported
good response to levodopa treatment


HPO:

31
parkinson disease 21:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0111251
OMIM® 57 616361
OMIM Phenotypic Series 57 PS168600
MeSH 44 D020734

Summaries for Parkinson Disease 21

UniProtKB/Swiss-Prot : 72 Parkinson disease 21: An autosomal dominant form of adult-onset 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.

MalaCards based summary : Parkinson Disease 21, also known as park21, is related to foramen magnum meningioma and parkinson disease 10. An important gene associated with Parkinson Disease 21 is PARK21 (Parkinson Disease 21), and among its related pathways/superpathways are Endocytosis and 3-phosphoinositide degradation. Affiliated tissues include brain and subthalamic nucleus, and related phenotypes are tremor and rigidity

Disease Ontology : 12 A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years.

OMIM® : 57 Parkinson disease-21 (PARK21) is an autosomal dominant form of typical adult-onset Parkinson disease characterized by tremor, rigidity, bradykinesia, postural instability, and good response to levodopa treatment (summary by Vilarino-Guell et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600). (616361) (Updated 05-Apr-2021)

Related Diseases for Parkinson Disease 21

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 1, Autosomal Dominant Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12 Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10 Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset
Juvenile-Onset Parkinson's Disease Early-Onset Parkinson's Disease
Vps35-Related Parkinson Disease Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease 21 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 foramen magnum meningioma 10.2 SYNJ1 INPP5F
2 parkinson disease 10 10.1 PRKN LRRK2
3 color agnosia 10.1 PRKN LRRK2
4 postencephalitic parkinson disease 10.1 PRKN LRRK2
5 radial nerve lesion 10.1 PRKN LRRK2
6 ophthalmomyiasis 10.1 PRKN LRRK2
7 atypical juvenile parkinsonism 10.0 SYNJ1 DNAJC6
8 juvenile-onset parkinson's disease 10.0 PRKN DNAJC6 DNAJC13
9 ulnar nerve lesion 10.0 PRKN LRRK2
10 tremor 10.0 PRKN LRRK2 DNAJC13
11 parkinson disease 3, autosomal dominant 10.0 PRKN LRRK2
12 testicular disease 10.0 PRKN LRRK2 KDM4C
13 parkinson disease 1, autosomal dominant 9.9 PRKN LRRK2
14 rem sleep behavior disorder 9.9 PRKN LRRK2
15 parkinson disease 2, autosomal recessive juvenile 9.7 SYNJ1 PRKN LRRK2 DNAJC6
16 hereditary late-onset parkinson disease 9.7 VPS35 LRRK2 DNAJC13
17 parkinson disease 15, autosomal recessive early-onset 9.7 VPS35 PRKN LRRK2
18 kufor-rakeb syndrome 9.7 VPS35 PRKN LRRK2
19 dementia, lewy body 9.6 VPS35 PRKN LRRK2
20 early-onset parkinson's disease 9.6 RAB39B PRKN LRRK2 DNAJC6
21 movement disease 9.6 VPS35 PRKN LRRK2
22 essential tremor 9.5 TMEM230 PRKN LRRK2 DNAJC13 CHCHD2
23 mitochondrial complex i deficiency, nuclear type 1 9.4 PRKN LRRK2 CHCHD2
24 parkinson disease, late-onset 7.7 VPS35 VPS26A TMEM230 SYNJ1 RAB39B PRKN

Graphical network of the top 20 diseases related to Parkinson Disease 21:



Diseases related to Parkinson Disease 21

Symptoms & Phenotypes for Parkinson Disease 21

Human phenotypes related to Parkinson Disease 21:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 tremor 31 HP:0001337
2 rigidity 31 HP:0002063
3 postural instability 31 HP:0002172
4 parkinsonism 31 HP:0001300
5 bradykinesia 31 HP:0002067
6 lewy bodies 31 HP:0100315

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
tremor
rigidity
postural instability
parkinsonism
bradykinesia
more

Clinical features from OMIM®:

616361 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Parkinson Disease 21 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.47 KDM4C
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 9.47 KDM4C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.47 VPS26A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.47 KDM4C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.47 DNAJC6
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.47 DNAJC6
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.47 KDM4C
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.47 DNAJC6
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-46 9.47 DNAJC6
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.47 DNAJC6 KDM4C VPS26A
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.47 VPS26A
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.47 DNAJC6

Drugs & Therapeutics for Parkinson Disease 21

Search Clinical Trials , NIH Clinical Center for Parkinson Disease 21

Genetic Tests for Parkinson Disease 21

Genetic tests related to Parkinson Disease 21:

# Genetic test Affiliating Genes
1 Parkinson Disease 21 29

Anatomical Context for Parkinson Disease 21

MalaCards organs/tissues related to Parkinson Disease 21:

40
Brain, Subthalamic Nucleus

Publications for Parkinson Disease 21

Articles related to Parkinson Disease 21:

# Title Authors PMID Year
1
Identification of TMEM230 mutations in familial Parkinson's disease. 57
27270108 2016
2
Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism. 57
25186792 2014
3
DNAJC13 mutations in Parkinson disease. 57
24218364 2014
4
Resting-state functional connectivity of the striatum in early-stage Parkinson's disease: Cognitive decline and motor symptomatology. 61
26566885 2016
5
Validation of parkinsonian disease-related metabolic brain patterns. 61
23483593 2013
6
Sexual well being in parkinsonian patients after deep brain stimulation of the subthalamic nucleus. 61
15314111 2004
7
Analysis of pathological tremors using the autoregression model. 61
11898903 2001
8
[Falling in Parkinson disease: more often due to postural instability than to environmental factors]. 61
11143299 2000
9
Rhythmic auditory-motor facilitation of gait patterns in patients with Parkinson's disease. 61
9010395 1997
10
Prevalence of Parkinson's disease and other types of parkinsonism: a door-to-door survey in three Sicilian municipalities. The Sicilian Neuro-Epidemiologic Study (SNES) Group. 61
1407570 1992

Variations for Parkinson Disease 21

ClinVar genetic disease variations for Parkinson Disease 21:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAJC13 NM_015268.4(DNAJC13):c.2564A>G (p.Asn855Ser) SNV Uncertain significance 56171 rs387907571 GRCh37: 3:132196839-132196839
GRCh38: 3:132477995-132477995
2 DNAJC13 NM_015268.4(DNAJC13):c.3872A>G (p.Glu1291Gly) SNV Likely benign 715477 rs61748101 GRCh37: 3:132213034-132213034
GRCh38: 3:132494190-132494190

Expression for Parkinson Disease 21

Search GEO for disease gene expression data for Parkinson Disease 21.

Pathways for Parkinson Disease 21

Pathways related to Parkinson Disease 21 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.53 VPS35 VPS26A DNAJC6
2 9.92 SYNJ1 INPP5F

GO Terms for Parkinson Disease 21

Cellular components related to Parkinson Disease 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.67 SYNJ1 RAB39B PRKN LRRK2
2 vesicle GO:0031982 9.63 VPS26A RAB39B DNAJC6
3 presynapse GO:0098793 9.61 SYNJ1 PRKN DNAJC6
4 endosome GO:0005768 9.43 VPS35 VPS26A TMEM230 LRRK2 INPP5F DNAJC13
5 retromer complex GO:0030904 9.4 VPS35 VPS26A
6 tubular endosome GO:0097422 9.32 VPS35 VPS26A
7 retromer, cargo-selective complex GO:0030906 9.26 VPS35 VPS26A
8 mitochondrion-derived vesicle GO:0099073 9.16 VPS35 PRKN
9 early endosome GO:0005769 9.02 VPS35 VPS26A TMEM230 INPP5F DNAJC13

Biological processes related to Parkinson Disease 21 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.76 RAB39B PRKN LRRK2
2 mitochondrion organization GO:0007005 9.67 PRKN LRRK2 CHCHD2
3 regulation of protein stability GO:0031647 9.65 VPS35 PRKN LRRK2
4 regulation of autophagy GO:0010506 9.61 RAB39B PRKN LRRK2
5 regulation of canonical Wnt signaling pathway GO:0060828 9.6 PRKN LRRK2
6 phosphatidylinositol dephosphorylation GO:0046856 9.59 SYNJ1 INPP5F
7 clathrin-dependent endocytosis GO:0072583 9.58 INPP5F DNAJC6
8 regulation of mitochondrion organization GO:0010821 9.57 VPS35 PRKN
9 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.56 PRKN LRRK2
10 retrograde transport, endosome to plasma membrane GO:1990126 9.55 VPS35 VPS26A
11 positive regulation of mitochondrial fission GO:0090141 9.54 VPS35 PRKN
12 negative regulation of neuron death GO:1901215 9.54 VPS35 PRKN LRRK2
13 synaptic vesicle transport GO:0048489 9.52 TMEM230 SYNJ1
14 cellular response to dopamine GO:1903351 9.51 PRKN LRRK2
15 cellular response to manganese ion GO:0071287 9.46 PRKN LRRK2
16 protein localization to mitochondrion GO:0070585 9.4 PRKN LRRK2
17 positive regulation of dopamine receptor signaling pathway GO:0060161 9.32 VPS35 LRRK2
18 synaptic vesicle uncoating GO:0016191 9.26 SYNJ1 DNAJC6
19 regulation of synaptic vesicle transport GO:1902803 9.16 PRKN LRRK2
20 mitochondrion to lysosome transport GO:0099074 8.96 VPS35 PRKN
21 negative regulation of late endosome to lysosome transport GO:1902823 8.62 VPS35 LRRK2

Molecular functions related to Parkinson Disease 21 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SH3 domain binding GO:0017124 9.43 SYNJ1 PRKN DNAJC6
2 phosphoric ester hydrolase activity GO:0042578 9.16 SYNJ1 INPP5F
3 phosphatidylinositol-4-phosphate phosphatase activity GO:0043812 8.96 SYNJ1 INPP5F
4 phosphatidylinositol phosphate 5-phosphatase activity GO:0034595 8.62 SYNJ1 INPP5F

Sources for Parkinson Disease 21

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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