MCID: HRD173
MIFTS: 33

Hereditary Late-Onset Parkinson Disease

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

Aliases & Classifications for Hereditary Late-Onset Parkinson Disease

MalaCards integrated aliases for Hereditary Late-Onset Parkinson Disease:

Name: Hereditary Late-Onset Parkinson Disease 60
Autosomal Dominant Late-Onset Parkinson Disease 60
Lopd 60

Characteristics:

Orphanet epidemiological data:

60
hereditary late-onset parkinson disease
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: elderly;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Hereditary Late-Onset Parkinson Disease

MalaCards based summary : Hereditary Late-Onset Parkinson Disease, also known as autosomal dominant late-onset parkinson disease, is related to parkinson disease 10 and parkinson disease 3, autosomal dominant. An important gene associated with Hereditary Late-Onset Parkinson Disease is DNAJC13 (DnaJ Heat Shock Protein Family (Hsp40) Member C13), and among its related pathways/superpathways is Parkinsons Disease Pathway. Related phenotypes are diplopia and dysphagia

Related Diseases for Hereditary Late-Onset Parkinson Disease

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
Lrrk2-Related Parkinson Disease Vps35-Related Parkinson Disease
Parkinson Disease Type 9 Hereditary Late-Onset Parkinson Disease

Diseases related to Hereditary Late-Onset Parkinson Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 parkinson disease 10 10.0 LRRK2 SNCA
2 parkinson disease 3, autosomal dominant 10.0 LRRK2 SNCA
3 postencephalitic parkinson disease 10.0 LRRK2 SNCA
4 rem sleep behavior disorder 10.0 LRRK2 SNCA
5 corticobasal degeneration 9.9 GBA LRRK2
6 parkinson disease 2, autosomal recessive juvenile 9.9 LRRK2 SNCA
7 supranuclear palsy, progressive, 1 9.9 LRRK2 SNCA
8 essential tremor 9.8 DNAJC13 LRRK2 SNCA
9 multiple system atrophy 1 9.8 LRRK2 SNCA
10 dysautonomia 9.8 DNAJC13 GBA SNCA
11 early-onset parkinson's disease 9.8 GBA LRRK2 SNCA
12 movement disease 9.7 GBA LRRK2 SNCA
13 dementia 9.7 GBA LRRK2 SNCA
14 dementia, lewy body 9.7 GBA LRRK2 SNCA
15 gaucher's disease 9.7 GBA SNCA
16 tremor 9.5 DNAJC13 GBA LRRK2 SNCA
17 parkinson disease, late-onset 8.5 DNAJC13 EIF4G1 GBA GIGYF2 LRRK2 SNCA

Graphical network of the top 20 diseases related to Hereditary Late-Onset Parkinson Disease:



Diseases related to Hereditary Late-Onset Parkinson Disease

Symptoms & Phenotypes for Hereditary Late-Onset Parkinson Disease

Human phenotypes related to Hereditary Late-Onset Parkinson Disease:

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diplopia 60 33 frequent (33%) Frequent (79-30%) HP:0000651
2 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
3 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359
4 hyposmia 60 33 frequent (33%) Frequent (79-30%) HP:0004409
5 parkinsonism with favorable response to dopaminergic medication 60 33 frequent (33%) Frequent (79-30%) HP:0002548
6 akinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002304
7 resting tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002322
8 chronic constipation 60 33 frequent (33%) Frequent (79-30%) HP:0012450
9 spastic/hyperactive bladder 60 33 frequent (33%) Frequent (79-30%) HP:0005340
10 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
11 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
12 dyskinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100660
13 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
14 dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001332
15 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
16 rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002063
17 agitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0000713
18 visual hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0002367
19 bradykinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002067
20 shuffling gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002362
21 impulsivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0100710
22 orthostatic hypotension due to autonomic dysfunction 60 33 occasional (7.5%) Occasional (29-5%) HP:0004926
23 gliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002171
24 apathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000741
25 hypomimic face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000338
26 postural instability 60 33 occasional (7.5%) Occasional (29-5%) HP:0002172
27 monotonic speech 60 33 occasional (7.5%) Occasional (29-5%) HP:0031435
28 lewy bodies 60 33 occasional (7.5%) Occasional (29-5%) HP:0100315
29 low frustration tolerance 60 33 occasional (7.5%) Occasional (29-5%) HP:0000744
30 muscle spasm 33 occasional (7.5%) HP:0003394
31 dementia 60 33 very rare (1%) Very rare (<4-1%) HP:0000726
32 schizophrenia 60 33 very rare (1%) Very rare (<4-1%) HP:0100753
33 muscle cramps 60 Occasional (29-5%)
34 mental deterioration 60 Occasional (29-5%)
35 parkinsonism 60 Obligate (100%)

MGI Mouse Phenotypes related to Hereditary Late-Onset Parkinson Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.26 EIF4G1 LRRK2 SNCA VPS35
2 normal MP:0002873 9.02 EIF4G1 GBA LRRK2 SNCA VPS35

Drugs & Therapeutics for Hereditary Late-Onset Parkinson Disease

Search Clinical Trials , NIH Clinical Center for Hereditary Late-Onset Parkinson Disease

Genetic Tests for Hereditary Late-Onset Parkinson Disease

Anatomical Context for Hereditary Late-Onset Parkinson Disease

Publications for Hereditary Late-Onset Parkinson Disease

Variations for Hereditary Late-Onset Parkinson Disease

Expression for Hereditary Late-Onset Parkinson Disease

Search GEO for disease gene expression data for Hereditary Late-Onset Parkinson Disease.

Pathways for Hereditary Late-Onset Parkinson Disease

Pathways related to Hereditary Late-Onset Parkinson Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.55 LRRK2 SNCA

GO Terms for Hereditary Late-Onset Parkinson Disease

Cellular components related to Hereditary Late-Onset Parkinson Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.98 DNAJC13 EIF4G1 GBA GIGYF2 LRRK2 SNCA
2 cytosol GO:0005829 9.93 DNAJC13 EIF4G1 GIGYF2 LRRK2 SNCA VPS35
3 neuronal cell body GO:0043025 9.54 LRRK2 SNCA VPS35
4 lysosomal membrane GO:0005765 9.43 DNAJC13 GBA VPS35
5 synaptic vesicle membrane GO:0030672 9.4 LRRK2 SNCA
6 terminal bouton GO:0043195 9.32 LRRK2 SNCA
7 endosome GO:0005768 9.26 DNAJC13 GIGYF2 LRRK2 VPS35
8 inclusion body GO:0016234 9.16 LRRK2 SNCA
9 lysosome GO:0005764 8.92 GBA LRRK2 SNCA VPS35

Biological processes related to Hereditary Late-Onset Parkinson Disease according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of inflammatory response GO:0050728 9.6 GBA VPS35
2 positive regulation of canonical Wnt signaling pathway GO:0090263 9.59 LRRK2 VPS35
3 cellular response to oxidative stress GO:0034599 9.58 LRRK2 SNCA
4 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.58 EIF4G1 SNCA
5 negative regulation of protein phosphorylation GO:0001933 9.57 LRRK2 SNCA
6 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.56 GBA LRRK2
7 excitatory postsynaptic potential GO:0060079 9.55 LRRK2 SNCA
8 cellular response to starvation GO:0009267 9.54 GBA LRRK2
9 mitochondrion organization GO:0007005 9.54 EIF4G1 GBA LRRK2
10 regulation of macroautophagy GO:0016241 9.52 GBA VPS35
11 adult locomotory behavior GO:0008344 9.51 GIGYF2 SNCA
12 protein destabilization GO:0031648 9.49 SNCA VPS35
13 lysosome organization GO:0007040 9.48 LRRK2 VPS35
14 regulation of neuron death GO:1901214 9.46 LRRK2 SNCA
15 regulation of locomotion GO:0040012 9.43 LRRK2 SNCA
16 negative regulation of protein homooligomerization GO:0032463 9.4 GBA VPS35
17 regulation of cellular protein metabolic process GO:0032268 9.32 GBA VPS35
18 positive regulation of dopamine receptor signaling pathway GO:0060161 9.26 LRRK2 VPS35
19 negative regulation of late endosome to lysosome transport GO:1902823 9.16 LRRK2 VPS35
20 regulation of presynapse assembly GO:1905606 9.13 EIF4G1 SNCA VPS35
21 negative regulation of neuron death GO:1901215 9.02 EIF4G1 GBA LRRK2 SNCA VPS35

Sources for Hereditary Late-Onset Parkinson Disease

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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