PARK4
MCID: PRK091
MIFTS: 39

Parkinson Disease 4, Autosomal Dominant (PARK4)

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

Aliases & Classifications for Parkinson Disease 4, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 4, Autosomal Dominant:

Name: Parkinson Disease 4, Autosomal Dominant 56 73
Parkinson Disease 4 56 29 13 6
Parkinson Disease 4, Autosomal Dominant Lewy Body 56 71
Parkinson's Disease 4 12 15
Park4 56 73
Autosomal Dominant Lewy Body Parkinson Disease 4 12
Parkinson Disease 4 Autosomal Dominant Lewy Body 73
Autosomal Dominant Parkinson's Disease 4 12
Autosomal Dominant Parkinson Disease 4 12
Parkinson Disease Autosomal Dominant 4 73
Parkinson Disease Familial Type 4 73
Parkinson Disease, Type 4 39

Characteristics:

OMIM:

56
Miscellaneous:
rapidly progressive
levodopa-responsive
early age of onset (approximately 45 years)
phenotype range from typical parkinson disease to dementia with lewy bodies

Inheritance:
autosomal dominant


HPO:

31
parkinson disease 4, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course middle age onset rapidly progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0060895
OMIM 56 605543
OMIM Phenotypic Series 56 PS168600
MeSH 43 D010300
ICD10 32 G20
MedGen 41 C1854182
UMLS 71 C1854182

Summaries for Parkinson Disease 4, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 Parkinson disease 4, autosomal dominant: A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia.

MalaCards based summary : Parkinson Disease 4, Autosomal Dominant, also known as parkinson disease 4, is related to parkinson disease 2, autosomal recessive juvenile and chronic wasting disease. An important gene associated with Parkinson Disease 4, Autosomal Dominant is SNCA (Synuclein Alpha), and among its related pathways/superpathways are Parkinsons Disease Pathway and Dopaminergic Neurogenesis. The drugs Resveratrol and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are hallucinations and weight loss

Disease Ontology : 12 A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22.

More information from OMIM: 605543 PS168600

Related Diseases for Parkinson Disease 4, Autosomal Dominant

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 4, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 parkinson disease 2, autosomal recessive juvenile 10.3 SNCA MNDA
2 chronic wasting disease 10.1 SNCA HUWE1
3 von economo's disease 10.1 SNCA SLC6A3
4 akinetic mutism 10.1 SNCA SLC6A3
5 epilepsy, familial adult myoclonic, 5 10.0 SNCA SLC6A3
6 communicating hydrocephalus 9.9 SNCA SLC6A3
7 dopamine beta-hydroxylase deficiency 9.9 TH SNCA
8 pure autonomic failure 9.9 TH SNCA
9 kufor-rakeb syndrome 9.9 SNCA SLC6A3
10 rem sleep behavior disorder 9.8 SNCA SLC6A3
11 essential tremor 9.7 SNCA SLC6A3 GABRR3
12 paroxysmal dystonia 9.6 TH SLC6A3
13 delusional disorder 9.6 TH SLC6A3
14 postencephalitic parkinson disease 9.5 TH SNCA SLC6A3
15 striatonigral degeneration 9.5 TH SNCA SLC6A3
16 dystonia, dopa-responsive 9.5 TH TAF1 SLC6A3
17 olivopontocerebellar atrophy 9.5 TH SNCA SLC6A3
18 sleep disorder 9.5 TH SNCA SLC6A3
19 multiple system atrophy 1 9.5 TH SNCA SLC6A3
20 toxic encephalopathy 9.5 TH SNCA SLC6A3
21 perry syndrome 9.5 TH SNCA
22 supranuclear palsy, progressive, 1 9.5 TH SNCA SLC6A3
23 dementia, lewy body 9.5 TH SNCA SLC6A3
24 movement disease 9.4 TH TAF1 SNCA SLC6A3
25 disease of mental health 9.2 TH SNCA SLC6A3 GABRR3
26 restless legs syndrome 9.2 TH SNCA SLC6A3 GABRR3
27 pervasive developmental disorder 9.1 TH SNCA SLC6A3 GABRR3
28 leigh syndrome 9.0 TH SLC6A3 MT-ATP8 IMMT
29 parkinson disease, late-onset 8.6 TH TAF1 SNCA SLC6A3 HUWE1 GABRR3

Graphical network of the top 20 diseases related to Parkinson Disease 4, Autosomal Dominant:



Diseases related to Parkinson Disease 4, Autosomal Dominant

Symptoms & Phenotypes for Parkinson Disease 4, Autosomal Dominant

Human phenotypes related to Parkinson Disease 4, Autosomal Dominant:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hallucinations 31 HP:0000738
2 weight loss 31 HP:0001824
3 orthostatic hypotension 31 HP:0001278
4 dementia 31 HP:0000726
5 parkinsonism 31 HP:0001300
6 paranoia 31 HP:0011999
7 lewy bodies 31 HP:0100315

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
hallucinations
paranoia

Neurologic Central Nervous System:
dementia
parkinsonism
autonomic dysfunction
diffuse lewy body pathology
alpha-synuclein immunoreactive neuronal and glial inclusions

Growth Weight:
weight loss

Cardiovascular Vascular:
hypotension, postural, due to autonomic dysfunction

Clinical features from OMIM:

605543

MGI Mouse Phenotypes related to Parkinson Disease 4, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.36 EHD4 FSCN1 GCLM HUWE1 MCOLN1 PHB

Drugs & Therapeutics for Parkinson Disease 4, Autosomal Dominant

Drugs for Parkinson Disease 4, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Resveratrol Investigational Phase 1 501-36-0 445154
2
Dopamine Approved 51-61-6, 62-31-7 681
3 Dopamine agonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Food on the Pharmacokinetics of a Single 400 mg Oral Dose of BIA 6-512 (Trans-resveratrol) in Healthy Subjects Completed NCT03095092 Phase 1 BIA 6-512 400 mg
2 Relationship Between Dopaminergic Asymmetric Degeneration and Attentional Resources in Parkinson's Disease. Completed NCT03476668
3 Effectiveness of MIRT on Hand and Finger Dexterity in PD Patients Completed NCT03763955
4 Psychoeducational Programme for Patients With Parkinson's Disease Undergoing Subthalamic Deep Brain Stimulation Completed NCT02554370
5 Smell, Voice and Nasal Swabs as Markers for Neuro-degenerative Disorders Recruiting NCT03299062
6 Light Therapy in Parkinson's Disease : Effect on Motor Symptoms, Sleep, Circadian Rhythms, and Mood Recruiting NCT02072642

Search NIH Clinical Center for Parkinson Disease 4, Autosomal Dominant

Genetic Tests for Parkinson Disease 4, Autosomal Dominant

Genetic tests related to Parkinson Disease 4, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Parkinson Disease 4 29 SNCA

Anatomical Context for Parkinson Disease 4, Autosomal Dominant

MalaCards organs/tissues related to Parkinson Disease 4, Autosomal Dominant:

40
Brain

Publications for Parkinson Disease 4, Autosomal Dominant

Articles related to Parkinson Disease 4, Autosomal Dominant:

(show all 13)
# Title Authors PMID Year
1
Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. 6 56
17251522 2007
2
Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. 56 6
14755720 2004
3
alpha-Synuclein locus triplication causes Parkinson's disease. 6 56
14593171 2003
4
Autosomal dominant Lewy body parkinsonism in a four-generation family. 6 56
8285594 1994
5
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 6
23279440 2013
6
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. 56
19139307 2009
7
Parkinson Disease Overview 6
20301402 2004
8
Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication. 6
15159488 2004
9
Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. 56
10867800 2000
10
A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. 56
9887334 1999
11
Hereditary form of parkinsonism--dementia. 56
9629847 1998
12
Report of familial cases of parkinsonism. Evidence of a dominant trait in a patient's family. 56
13915636 1962
13
[Demographic characteristics of RBD patients at a sleep center--with special emphasis on neurodegenerative diseases as the background condition]. 61
18044204 2007

Variations for Parkinson Disease 4, Autosomal Dominant

ClinVar genetic disease variations for Parkinson Disease 4, Autosomal Dominant:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SNCA SNCA, TRIPLICATIONcopy number gain Pathogenic 14009

Expression for Parkinson Disease 4, Autosomal Dominant

Search GEO for disease gene expression data for Parkinson Disease 4, Autosomal Dominant.

Pathways for Parkinson Disease 4, Autosomal Dominant

Pathways related to Parkinson Disease 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.06 TH SNCA SLC6A3
2 10.73 TH SLC6A3
3
Show member pathways
10.52 TH SLC6A3
4 10.3 TH SNCA SLC6A3

GO Terms for Parkinson Disease 4, Autosomal Dominant

Cellular components related to Parkinson Disease 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle membrane GO:0030659 9.13 TH SNCA MCOLN1
2 mitochondrial inner membrane GO:0005743 8.92 SNCA PHB MT-ATP8 IMMT

Biological processes related to Parkinson Disease 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.62 TH SNCA SLC6A3 GCLM
2 cristae formation GO:0042407 9.4 MT-ATP8 IMMT
3 synaptic transmission, dopaminergic GO:0001963 9.37 TH SNCA
4 neurotransmitter biosynthetic process GO:0042136 9.26 TH SLC6A3
5 hyaloid vascular plexus regression GO:1990384 9.16 TH SLC6A3
6 dopamine uptake involved in synaptic transmission GO:0051583 8.96 SNCA SLC6A3
7 dopamine biosynthetic process GO:0042416 8.8 TH SNCA SLC6A3

Molecular functions related to Parkinson Disease 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 9.26 TAF1 SP9 SNCA PHB
2 ferrous iron binding GO:0008198 9.16 TH SNCA
3 dopamine binding GO:0035240 8.62 TH SLC6A3

Sources for Parkinson Disease 4, Autosomal Dominant

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
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