PARK4
MCID: PRK091
MIFTS: 23

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 58 76
Parkinson Disease 4 58 30 13 6
Parkinson Disease 4, Autosomal Dominant Lewy Body 58 74
Park4 58 76
Autosomal Dominant Lewy Body Parkinson Disease 4 12
Parkinson Disease 4 Autosomal Dominant Lewy Body 76
Autosomal Dominant Parkinson's Disease 4 12
Autosomal Dominant Parkinson Disease 4 12
Parkinson Disease Autosomal Dominant 4 76
Parkinson Disease Familial Type 4 76
Parkinson Disease, Type 4 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
parkinson disease 4, autosomal dominant:
Onset and clinical course rapidly progressive middle age onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Parkinson Disease 4, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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 rem sleep behavior disorder. An important gene associated with Parkinson Disease 4, Autosomal Dominant is SNCA (Synuclein Alpha). 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 (SNCA) on chromosome 4q22.

Description from OMIM: 605543

Related Diseases for Parkinson Disease 4, Autosomal Dominant

Symptoms & Phenotypes for Parkinson Disease 4, Autosomal Dominant

Human phenotypes related to Parkinson Disease 4, Autosomal Dominant:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hallucinations 33 HP:0000738
2 weight loss 33 HP:0001824
3 paranoia 33 HP:0011999
4 dementia 33 HP:0000726
5 orthostatic hypotension 33 HP:0001278
6 parkinsonism 33 HP:0001300
7 lewy bodies 33 HP:0100315

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Parkinson Disease 4, Autosomal Dominant

Search Clinical Trials , 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 30 SNCA

Anatomical Context for Parkinson Disease 4, Autosomal Dominant

Publications for Parkinson Disease 4, Autosomal Dominant

Variations for Parkinson Disease 4, Autosomal Dominant

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SNCA SNCA, TRIPLICATION copy number gain Pathogenic

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

GO Terms for Parkinson Disease 4, Autosomal Dominant

Sources for Parkinson Disease 4, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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