MCID: PRK091
MIFTS: 22

Parkinson Disease 4, Autosomal Dominant

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

Aliases & Classifications for Parkinson Disease 4, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 4, Autosomal Dominant:

Name: Parkinson Disease 4, Autosomal Dominant 57 75
Parkinson Disease 4 57 29 13 6
Parkinson Disease 4, Autosomal Dominant Lewy Body 57 73
Park4 57 75
Autosomal Dominant Lewy Body Parkinson Disease 4 12
Parkinson Disease 4 Autosomal Dominant Lewy Body 75
Autosomal Dominant Parkinson's Disease 4 12
Autosomal Dominant Parkinson Disease 4 12
Parkinson Disease Autosomal Dominant 4 75
Parkinson Disease Familial Type 4 75
Parkinson Disease, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
parkinson disease 4, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course middle age onset rapidly progressive


Classifications:



Summaries for Parkinson Disease 4, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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, is also known as parkinson disease 4. An important gene associated with Parkinson Disease 4, Autosomal Dominant is SNCA (Synuclein Alpha). Related phenotypes are dysautonomia and hallucinations

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

Symptoms & Phenotypes for Parkinson Disease 4, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
weight loss

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

Cardiovascular Vascular:
hypotension, postural, due to autonomic dysfunction

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
paranoia


Clinical features from OMIM:

605543

Human phenotypes related to Parkinson Disease 4, Autosomal Dominant:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 dysautonomia 32 HP:0002459
2 hallucinations 32 HP:0000738
3 weight loss 32 HP:0001824
4 paranoia 32 HP:0011999
5 dementia 32 HP:0000726
6 orthostatic hypotension 32 HP:0001278
7 parkinsonism 32 HP:0001300
8 lewy bodies 32 HP:0100315

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 29 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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